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 CAMTA1 23261 broad.mit.edu 37 1 7724942 7724942 + Missense_Mutation SNP G G A TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr1:7724942G>A uc001aoi.2 + 9 2542 c.2335G>A c.(2335-2337)GAC>AAC p.D779N NM_015215 NP_056030 Q9Y6Y1 CMTA1_HUMAN calmodulin-binding transcription activator 1 779 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1) 9 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) CCTGATCAACGACTTCATCTC 0.647 NA 27 313 0 0 0 0 MASP2 10747 broad.mit.edu 37 1 11090260 11090260 + Nonsense_Mutation SNP C C A TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr1:11090260C>A uc001aru.2 - 10 1291 c.1270G>T c.(1270-1272)GAA>TAA p.E424* NM_006610 NP_006601 O00187 MASP2_HUMAN mannan-binding lectin serine protease 2 isoform 424 Sushi 2. complement activation, classical pathway|complement activation, lectin pathway|proteolysis extracellular region calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity ovary(2)|pancreas(1)|skin(1) 4 Ovarian(185;0.249) Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.071) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192) AGTGATTTTTCTCCTTTGGAG 0.423 NA 15 46 1.57e-10 1.77e-10 1 0 ARHGEF10L 55160 broad.mit.edu 37 1 17953907 17953907 + Missense_Mutation SNP A A G TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr1:17953907A>G uc001ban.2 + 15 1652 c.1493A>G c.(1492-1494)GAG>GGG p.E498G ARHGEF10L_uc009vpe.1_Missense_Mutation_p.E459G|ARHGEF10L_uc001bao.2_Missense_Mutation_p.E459G|ARHGEF10L_uc001bap.2_Missense_Mutation_p.E459G|ARHGEF10L_uc010ocr.1_Missense_Mutation_p.E256G|ARHGEF10L_uc001baq.2_Missense_Mutation_p.E264G|ARHGEF10L_uc010ocs.1_Missense_Mutation_p.E276G|ARHGEF10L_uc001bar.2_Missense_Mutation_p.E206G|ARHGEF10L_uc009vpf.2_RNA NM_018125 NP_060595 Q9HCE6 ARGAL_HUMAN Rho guanine nucleotide exchange factor (GEF) 498 DH. regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity large_intestine(1)|ovary(1)|pancreas(1) 3 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204) ACGCTGGCTGAGAAGCTGAAC 0.627 NA 11 42 0 0 0 0 C1orf173 127254 broad.mit.edu 37 1 75039018 75039018 + Silent SNP T T C TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr1:75039018T>C uc001dgg.2 - 14 2595 c.2376A>G c.(2374-2376)AAA>AAG p.K792K NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 792 Glu-rich. ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 CTGCCTCCCCTTTTCCCTGTA 0.522 NA 3 149 0 0 0 0 USP33 23032 broad.mit.edu 37 1 78183606 78183606 + Missense_Mutation SNP G G C TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr1:78183606G>C uc001dht.2 - 18 2304 c.1957C>G c.(1957-1959)CAA>GAA p.Q653E USP33_uc001dhs.2_Missense_Mutation_p.Q374E|USP33_uc001dhu.2_Missense_Mutation_p.Q622E|USP33_uc001dhv.2_Missense_Mutation_p.Q458E|USP33_uc001dhw.2_Missense_Mutation_p.Q645E NM_015017 NP_055832 Q8TEY7 UBP33_HUMAN ubiquitin specific protease 33 isoform 1 653 axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm|VCB complex cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding lung(2)|ovary(1) 3 GTCACAATTTGAGCTGGACTA 0.363 NA 5 80 0 0 0 0 NEXN 91624 broad.mit.edu 37 1 78383306 78383306 + Missense_Mutation SNP A A T TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr1:78383306A>T uc001dic.3 + 3 380 c.83A>T c.(82-84)AAG>ATG p.K28M NEXN_uc001dia.3_Missense_Mutation_p.K28M|NEXN_uc009wcb.1_Intron|NEXN_uc001dib.3_Intron|NEXN_uc001did.1_5'Flank|NEXN_uc001dif.1_5'Flank NM_144573 NP_653174 Q0ZGT2 NEXN_HUMAN nexilin (F actin binding protein) 28 regulation of cell migration|regulation of cytoskeleton organization cytoskeleton|Z disc actin filament binding|structural constituent of muscle ovary(2) 2 Colorectal(170;0.114) AAACTTGGCAAGGGTGATGTA 0.338 NA 6 61 0 0 0 0 HS2ST1 9653 broad.mit.edu 37 1 87558299 87558299 + Missense_Mutation SNP T T C TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr1:87558299T>C uc010osk.1 + 4 920 c.535T>C c.(535-537)TTT>CTT p.F179L HS2ST1_uc001dmc.3_Missense_Mutation_p.F179L|LOC339524_uc001dme.1_Missense_Mutation_p.F140L NM_012262 NP_036394 Q7LGA3 HS2ST_HUMAN heparan sulfate 2-O-sulfotransferase 1 isoform 179 Lumenal (Potential). Golgi membrane|integral to membrane central_nervous_system(1) 1 Lung NSC(277;0.153) all cancers(265;0.00699)|Epithelial(280;0.0261) CTTTCTGAGATTTGGAGATGA 0.299 NA 7 69 0 0 0 0 PKN2 5586 broad.mit.edu 37 1 89271671 89271671 + Missense_Mutation SNP G G C TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr1:89271671G>C uc001dmn.2 + 12 2116 c.1774G>C c.(1774-1776)GAA>CAA p.E592Q PKN2_uc001dmm.1_3'UTR|PKN2_uc010osp.1_Missense_Mutation_p.E576Q|PKN2_uc010osq.1_Missense_Mutation_p.E435Q|PKN2_uc009wcv.2_Missense_Mutation_p.E544Q|PKN2_uc010osr.1_Missense_Mutation_p.E257Q NM_006256 NP_006247 Q16513 PKN2_HUMAN protein kinase N2 592 signal transduction cytoplasm ATP binding|histone deacetylase binding|protein kinase C activity large_intestine(1)|lung(1)|skin(1) 3 Lung NSC(277;0.123) all cancers(265;0.0136)|Epithelial(280;0.0301) TGAATCTTCTGAATTAAGAGT 0.388 NA 8 50 0 0 0 0 DPYD 1806 broad.mit.edu 37 1 97981411 97981411 + Missense_Mutation SNP C C A TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr1:97981411C>A uc001drv.2 - 13 1748 c.1611G>T c.(1609-1611)ATG>ATT p.M537I NM_000110 NP_000101 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase isoform 1 537 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity ovary(3)|skin(3)|breast(2) 8 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) TCAATCCGGCCATTTCTACAC 0.438 NA 5 51 1.02e-07 1.14e-07 1 0 TRIM33 51592 broad.mit.edu 37 1 114948369 114948369 + Missense_Mutation SNP C C G TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr1:114948369C>G uc001eew.2 - 15 2515 c.2431G>C c.(2431-2433)GAG>CAG p.E811Q TRIM33_uc010owr.1_Missense_Mutation_p.E425Q|TRIM33_uc010ows.1_Missense_Mutation_p.E443Q|TRIM33_uc001eex.2_Missense_Mutation_p.E811Q|TRIM33_uc001eey.1_Missense_Mutation_p.E6Q NM_015906 NP_056990 Q9UPN9 TRI33_HUMAN tripartite motif-containing 33 protein isoform 811 E -> K (in a lung adenocarcinoma sample; somatic mutation). 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 p.E811K(2) 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) AAGCTACTCTCAGGACTGCTC 0.373 NA T RET papillary thyroid 3 92 0 0 0 0 WDR3 10885 broad.mit.edu 37 1 118495242 118495242 + Missense_Mutation SNP A A G TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr1:118495242A>G uc010oxe.1 + 19 2174 c.2108A>G c.(2107-2109)GAG>GGG p.E703G WDR3_uc001ehi.2_Intron NM_006784 NP_006775 Q9UNX4 WDR3_HUMAN WD repeat-containing protein 3 703 WD 13. nuclear membrane|nucleolus upper_aerodigestive_tract(1) 1 Esophageal squamous(2;0.162) all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244) OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185) AGACTTTGGGAGAGAACAAGG 0.463 NA 3 122 0 0 0 0 HIST2H3D 653604 broad.mit.edu 37 1 149784913 149784913 + Silent SNP C C G TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr1:149784913C>G uc010pbl.1 - 1 324 c.324G>C c.(322-324)ACG>ACC p.T108T HIST2H2BF_uc010pbj.1_5'Flank|HIST2H2BF_uc010pbk.1_5'Flank|HIST2H2BF_uc001esr.2_5'Flank NM_001123375 NP_001116847 Q71DI3 H32_HUMAN histone cluster 2, H3d 108 blood coagulation|nucleosome assembly nucleoplasm|nucleosome DNA binding|protein binding 0 CGCACAGGTTCGTGTCTTCGA 0.627 NA 9 39 0 0 0 0 FCRL5 83416 broad.mit.edu 37 1 157497570 157497570 + Nonsense_Mutation SNP C C T TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr1:157497570C>T uc001fqu.2 - 9 1955 c.1797G>A c.(1795-1797)TGG>TGA p.W599* FCRL5_uc009wsm.2_Nonsense_Mutation_p.W599*|FCRL5_uc010phv.1_Nonsense_Mutation_p.W599*|FCRL5_uc010phw.1_Nonsense_Mutation_p.W514* NM_031281 NP_112571 Q96RD9 FCRL5_HUMAN Fc receptor-like 5 599 Extracellular (Potential).|Ig-like C2-type 6. integral to membrane|plasma membrane receptor activity ovary(3)|breast(2)|central_nervous_system(1) 6 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.231) CATGATAAAACCAGTACAGGA 0.582 NA 21 85 0 0 0 0 CD1D 912 broad.mit.edu 37 1 158151354 158151354 + Silent SNP C C T TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr1:158151354C>T uc001frr.2 + 3 670 c.171C>T c.(169-171)AGC>AGT p.S57S CD1D_uc009wsr.1_Silent_p.S57S|CD1D_uc009wss.2_Silent_p.S57S|CD1D_uc009wst.1_5'UTR NM_001766 NP_001757 P15813 CD1D_HUMAN CD1D antigen precursor 57 Extracellular (Potential). antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection endosome membrane|integral to plasma membrane|lysosomal membrane beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding ovary(1) 1 all_hematologic(112;0.0378) AGACGCACAGCTGGAGCAACG 0.632 NA 50 145 0 0 0 0 KIFAP3 22920 broad.mit.edu 37 1 170001123 170001123 + Missense_Mutation SNP C C G TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr1:170001123C>G uc001ggv.2 - 8 1016 c.745G>C c.(745-747)GAT>CAT p.D249H NM_014970 NP_055785 Q92845 KIFA3_HUMAN kinesin-associated protein 3 249 blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule kinesin binding skin(1) 1 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) GGGTCTTCATCAAGTAAACAA 0.333 NA 10 82 0 0 0 0 MYO3A 53904 broad.mit.edu 37 10 26482144 26482144 + Missense_Mutation SNP A A T TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr10:26482144A>T uc001isn.2 + 32 4809 c.4449A>T c.(4447-4449)AAA>AAT p.K1483N MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Intron NM_017433 NP_059129 Q8NEV4 MYO3A_HUMAN myosin IIIA 1483 protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 18 GTGTCTGTAAAGGAGAGGAGC 0.333 NA 3 30 0 0 0 0 PARD3 56288 broad.mit.edu 37 10 34671564 34671564 + Missense_Mutation SNP G G C TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr10:34671564G>C uc010qej.1 - 9 1303 c.1303C>G c.(1303-1305)CCA>GCA p.P435A PARD3_uc010qek.1_Missense_Mutation_p.P435A|PARD3_uc010qel.1_Missense_Mutation_p.P435A|PARD3_uc010qem.1_Missense_Mutation_p.P435A|PARD3_uc010qen.1_Missense_Mutation_p.P435A|PARD3_uc010qeo.1_Missense_Mutation_p.P435A|PARD3_uc010qep.1_Missense_Mutation_p.P391A|PARD3_uc010qeq.1_Missense_Mutation_p.P391A|PARD3_uc001ixo.1_Missense_Mutation_p.P165A|PARD3_uc001ixp.1_Missense_Mutation_p.P300A|PARD3_uc001ixq.1_Missense_Mutation_p.P435A|PARD3_uc001ixr.1_Missense_Mutation_p.P435A|PARD3_uc001ixt.1_Missense_Mutation_p.P256A|PARD3_uc001ixu.1_Missense_Mutation_p.P391A|PARD3_uc001ixs.1_Missense_Mutation_p.P88A NM_019619 NP_062565 Q8TEW0 PARD3_HUMAN partitioning-defective protein 3 homolog 435 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding ovary(1) 1 Breast(68;0.0707) GCCGAGGCTGGAGCGGATGGT 0.502 NA 3 75 0 0 0 0 ARID5B 84159 broad.mit.edu 37 10 63759919 63759919 + Missense_Mutation SNP T T C TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr10:63759919T>C uc001jlt.1 + 4 598 c.572T>C c.(571-573)CTG>CCG p.L191P ARID5B_uc010qil.1_Missense_Mutation_p.L191P NM_032199 NP_115575 Q14865 ARI5B_HUMAN AT rich interactive domain 5B (MRF1-like) 191 liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent protein binding|transcription regulatory region DNA binding ovary(2)|upper_aerodigestive_tract(1)|kidney(1) 4 Prostate(12;0.016)|all_hematologic(501;0.215) CGCTCGATGCTGAAACGCATC 0.532 NA 3 67 0 0 0 0 SFXN4 119559 broad.mit.edu 37 10 120917410 120917410 + Silent SNP G G A TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr10:120917410G>A uc001leb.2 - 8 489 c.444C>T c.(442-444)TTC>TTT p.F148F SFXN4_uc001ldy.2_Silent_p.F32F|SFXN4_uc001ldz.2_Silent_p.F32F|SFXN4_uc001lea.2_RNA NM_213649 NP_998814 Q6P4A7 SFXN4_HUMAN sideroflexin 4 148 Helical; (Potential). iron ion homeostasis integral to membrane|mitochondrial membrane cation transmembrane transporter activity ovary(1) 1 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0261) TGATGCTGTTGAACGCTGCCA 0.418 NA 9 60 0 0 0 0 MKI67 4288 broad.mit.edu 37 10 129907526 129907526 + Missense_Mutation SNP C C G TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr10:129907526C>G uc001lke.2 - 13 2773 c.2578G>C c.(2578-2580)GAT>CAT p.D860H MKI67_uc001lkf.2_Missense_Mutation_p.D500H|MKI67_uc009yav.1_Missense_Mutation_p.D435H|MKI67_uc009yaw.1_Missense_Mutation_p.D10H NM_002417 NP_002408 P46013 KI67_HUMAN antigen identified by monoclonal antibody Ki-67 860 cell proliferation nucleolus ATP binding|protein C-terminus binding ovary(4)|central_nervous_system(2)|skin(1) 7 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) GTCTCAGTATCTGAAGTTTTT 0.433 NA 18 171 0 0 0 0 EBF3 253738 broad.mit.edu 37 10 131761669 131761669 + Nonsense_Mutation SNP C C A TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr10:131761669C>A uc001lki.1 - 2 312 c.253G>T c.(253-255)GAA>TAA p.E85* EBF3_uc010qur.1_Nonsense_Mutation_p.E71* NM_001005463 NP_001005463 Q9H4W6 COE3_HUMAN early B-cell factor 3 85 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding|protein binding central_nervous_system(1)|pancreas(1) 2 all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764) OV - Ovarian serous cystadenocarcinoma(35;0.00513) GCGGTCCTTTCAATCTCCACC 0.557 NA 26 122 1.4e-14 1.6e-14 1 0 MUC6 4588 broad.mit.edu 37 11 1028716 1028716 + Silent SNP G G T TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr11:1028716G>T uc001lsw.2 - 13 1572 c.1521C>A c.(1519-1521)CTC>CTA p.L507L NM_005961 NP_005952 Q6W4X9 MUC6_HUMAN mucin 6, gastric 507 VWFD 2. 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) GCTGGACCACGAGCTCCAGCC 0.642 NA 4 19 0.00024832 0.000265142 1 0 LRRC4C 57689 broad.mit.edu 37 11 40137506 40137506 + Silent SNP T T G TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr11:40137506T>G uc001mxa.1 - 2 2301 c.337A>C c.(337-339)AGA>CGA p.R113R LRRC4C_uc001mxc.1_Silent_p.R109R|LRRC4C_uc001mxd.1_Silent_p.R109R|LRRC4C_uc001mxb.1_Silent_p.R109R NM_020929 NP_065980 Q9HCJ2 LRC4C_HUMAN netrin-G1 ligand precursor 113 LRR 2. regulation of axonogenesis integral to membrane protein binding ovary(4)|skin(3)|central_nervous_system(1) 8 all_lung(304;0.0575)|Lung NSC(402;0.138) TCAATGGTTCTGATATGGTTC 0.438 NA 16 45 0 0 0 0 OR5M8 219484 broad.mit.edu 37 11 56258421 56258421 + Missense_Mutation SNP G G T TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr11:56258421G>T uc001nix.1 - 1 426 c.426C>A c.(424-426)TTC>TTA p.F142L NM_001005282 NP_001005282 Q8NGP6 OR5M8_HUMAN olfactory receptor, family 5, subfamily M, 142 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 Esophageal squamous(21;0.00352) CCGTGATGAGGAAGGAGCACA 0.512 NA 19 85 5.04e-11 5.69e-11 1 0 CPSF7 79869 broad.mit.edu 37 11 61196680 61196680 + Missense_Mutation SNP T T A TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr11:61196680T>A uc001nrq.2 - 2 162 c.28A>T c.(28-30)ATA>TTA p.I10L SDHAF2_uc001nrt.2_5'Flank|CPSF7_uc001nro.2_Missense_Mutation_p.I10L|CPSF7_uc001nrp.2_Missense_Mutation_p.I53L|CPSF7_uc001nrr.2_Missense_Mutation_p.I10L|CPSF7_uc001nrs.1_5'UTR|CPSF7_uc009ynp.2_Missense_Mutation_p.I10L NM_001136040 NP_001129512 Q8N684 CPSF7_HUMAN pre-mRNA cleavage factor I, 59 kDa subunit 10 mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription mRNA cleavage factor complex nucleotide binding|protein binding|RNA binding central_nervous_system(1) 1 TCAGCATATATATCAATCAAG 0.478 NA 35 212 0 0 0 0 SLC3A2 6520 broad.mit.edu 37 11 62655847 62655847 + Silent SNP G G T TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr11:62655847G>T uc001nwd.2 + 12 1799 c.1575G>T c.(1573-1575)CGG>CGT p.R525R SLC3A2_uc001nwb.2_Silent_p.R556R|SLC3A2_uc001nwc.2_Silent_p.R526R|SLC3A2_uc001nwe.2_Silent_p.R494R|SLC3A2_uc001nwf.2_Silent_p.R463R|SLC3A2_uc001nwg.2_Silent_p.R424R NM_002394 NP_002385 P08195 4F2_HUMAN solute carrier family 3, member 2 isoform c 525 Extracellular (Potential). blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport apical plasma membrane|cell surface|integral to membrane|melanosome calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding 0 TGTTCCGGCGGCTGAGTGACC 0.587 NA 22 69 1.5e-11 1.7e-11 1 0 LIMA1 51474 broad.mit.edu 37 12 50571764 50571764 + Missense_Mutation SNP C C T TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr12:50571764C>T uc001rwj.3 - 11 1537 c.1363G>A c.(1363-1365)GGC>AGC p.G455S LIMA1_uc001rwg.3_Missense_Mutation_p.G153S|LIMA1_uc001rwh.3_Missense_Mutation_p.G294S|LIMA1_uc001rwi.3_Missense_Mutation_p.G296S|LIMA1_uc001rwk.3_Missense_Mutation_p.G456S|LIMA1_uc010smr.1_RNA|LIMA1_uc010sms.1_RNA NM_016357 NP_057441 Q9UHB6 LIMA1_HUMAN LIM domain and actin binding 1 isoform b 455 actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization cytoplasm|focal adhesion|stress fiber actin filament binding|actin monomer binding|zinc ion binding ovary(1) 1 TGCCCAAAGCCTTCATCATAG 0.418 NA 8 163 0 0 0 0 CEP290 80184 broad.mit.edu 37 12 88535027 88535027 + Missense_Mutation SNP G G A TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr12:88535027G>A uc001tar.2 - 2 402 c.58C>T c.(58-60)CGT>TGT p.R20C CEP290_uc009zsl.1_5'Flank|TMTC3_uc009zsm.2_5'Flank|TMTC3_uc001tau.2_5'Flank NM_025114 NP_079390 O15078 CE290_HUMAN centrosomal protein 290kDa 20 cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium protein binding ovary(5)|breast(1)|pancreas(1) 7 TCTTCTTGACGGGGCAGGTCA 0.313 NA 14 27 0 0 0 0 FRY 10129 broad.mit.edu 37 13 32653003 32653003 + Missense_Mutation SNP C C A TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr13:32653003C>A uc001utx.2 + 2 599 c.103C>A c.(103-105)CCG>ACG p.P35T FRY_uc010tdw.1_RNA NM_023037 NP_075463 Q5TBA9 FRY_HUMAN furry homolog 35 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane ovary(5)|large_intestine(1)|skin(1) 7 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) CATCAAGCCTCCGGTTCCACC 0.478 NA 41 229 4.33e-17 4.97e-17 1 0 MYH6 4624 broad.mit.edu 37 14 23874010 23874010 + Missense_Mutation SNP C C A TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr14:23874010C>A uc001wjv.2 - 7 619 c.552G>T c.(550-552)AAG>AAT p.K184N MYH6_uc010akp.1_Missense_Mutation_p.K184N NM_002471 NP_002462 P13533 MYH6_HUMAN myosin heavy chain 6 184 ATP.|Myosin head-like. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle pancreas(2)|ovary(1)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) TGTTCACAGTCTTCCCCGCCC 0.552 NA 7 58 1.07e-07 1.19e-07 1 0 SIPA1L1 26037 broad.mit.edu 37 14 72152344 72152344 + Missense_Mutation SNP A A T TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr14:72152344A>T uc001xms.2 + 10 3718 c.3370A>T c.(3370-3372)AGG>TGG p.R1124W SIPA1L1_uc001xmt.2_Missense_Mutation_p.R1124W|SIPA1L1_uc001xmu.2_Missense_Mutation_p.R1124W|SIPA1L1_uc001xmv.2_Missense_Mutation_p.R1124W|SIPA1L1_uc010ttm.1_Missense_Mutation_p.R599W NM_015556 NP_056371 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1124 actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity ovary(3)|breast(1) 4 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) CCCACTAGAGAGGCGGTAAGT 0.507 NA 7 33 0 0 0 0 FMN1 342184 broad.mit.edu 37 15 33358886 33358886 + Silent SNP T T A TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr15:33358886T>A uc001zhf.3 - 1 1200 c.1200A>T c.(1198-1200)ACA>ACT p.T400T FMN1_uc001zhg.2_Silent_p.T400T NM_001103184 NP_001096654 Q68DA7 FMN1_HUMAN formin 1 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment actin cytoskeleton organization actin cytoskeleton|adherens junction|cytoplasm|nucleus actin binding ovary(1) 1 all_lung(180;1.14e-07) all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262) CCTCCAGGGCTGTCTCTGGCG 0.577 NA 16 58 0 0 0 0 C15orf55 256646 broad.mit.edu 37 15 34648621 34648621 + Silent SNP A A G TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr15:34648621A>G uc001zif.2 + 7 2483 c.2328A>G c.(2326-2328)CTA>CTG p.L776L C15orf55_uc010ucc.1_Silent_p.L804L|C15orf55_uc010ucd.1_Silent_p.L794L NM_175741 NP_786883 Q86Y26 NUT_HUMAN nuclear protein in testis 776 cytoplasm|nucleus BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3) midline_organs(25)|ovary(2)|lung(2)|skin(1) 30 all_lung(180;2.78e-08) all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249) GAGAAACCCTAGTACCTGGGG 0.537 NA T BRD3|BRD4 lethal midline carcinoma 15 81 0 0 0 0 THBS1 7057 broad.mit.edu 37 15 39884784 39884784 + Missense_Mutation SNP G G A TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr15:39884784G>A uc001zkh.2 + 17 2727 c.2548G>A c.(2548-2550)GAC>AAC p.D850N THBS1_uc010bbi.2_Missense_Mutation_p.D322N NM_003246 NP_003237 P07996 TSP1_HUMAN thrombospondin 1 precursor 850 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) CTCTGACTCAGACCGCATTGG 0.448 NA 5 14 0 0 0 0 THBS1 7057 broad.mit.edu 37 15 39884823 39884823 + Missense_Mutation SNP G G A TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr15:39884823G>A uc001zkh.2 + 17 2766 c.2587G>A c.(2587-2589)GAT>AAT p.D863N THBS1_uc010bbi.2_Missense_Mutation_p.D335N NM_003246 NP_003237 P07996 TSP1_HUMAN thrombospondin 1 precursor 863 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) TCAGGATATTGATGAAGATGG 0.468 NA 7 19 0 0 0 0 LDHAL6B 92483 broad.mit.edu 37 15 59499449 59499449 + Missense_Mutation SNP G G A TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr15:59499449G>A uc002agb.2 + 1 408 c.310G>A c.(310-312)GAA>AAA p.E104K MYO1E_uc002aga.2_Intron NM_033195 NP_149972 Q9BYZ2 LDH6B_HUMAN lactate dehydrogenase A-like 6B 104 NAD (By similarity). glycolysis cytoplasm L-lactate dehydrogenase activity|protein binding 0 NADH(DB00157) GGATCTTGATGAAGACAAACT 0.438 NA 18 122 0 0 0 0 MORF4L1 10933 broad.mit.edu 37 15 79172896 79172896 + Missense_Mutation SNP A A G TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr15:79172896A>G uc002bel.2 + 3 318 c.130A>G c.(130-132)ATA>GTA p.I44V MORF4L1_uc010bli.1_Missense_Mutation_p.I44V|MORF4L1_uc010blj.1_Missense_Mutation_p.I44V|MORF4L1_uc002bem.2_Missense_Mutation_p.I44V|MORF4L1_uc010une.1_5'UTR NM_206839 NP_996670 Q9UBU8 MO4L1_HUMAN MORF-related gene 15 isoform 2 44 Interaction with MYST1. double-strand break repair via homologous recombination|histone deacetylation|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|Sin3 complex protein N-terminus binding 0 GAAATACTTCATACATTACAG 0.289 NA 10 30 0 0 0 0 DET1 55070 broad.mit.edu 37 15 89074302 89074302 + Missense_Mutation SNP T T C TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr15:89074302T>C uc002bmr.2 - 2 787 c.635A>G c.(634-636)GAC>GGC p.D212G DET1_uc002bmp.3_RNA|DET1_uc010bnk.2_RNA|DET1_uc002bmq.2_Missense_Mutation_p.D223G NM_001144074 NP_001137546 Q7L5Y6 DET1_HUMAN de-etiolated 1 isoform 2 212 nucleus lung(1)|pancreas(1) 2 Lung NSC(78;0.105)|all_lung(78;0.182) BRCA - Breast invasive adenocarcinoma(143;0.188) GACCACCTTGTCACACTTGAA 0.502 NA 13 53 0 0 0 0 KIAA0430 9665 broad.mit.edu 37 16 15694394 15694394 + Silent SNP G G C TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr16:15694394G>C uc002ddr.2 - 25 4897 c.4704C>G c.(4702-4704)CTC>CTG p.L1568L KIAA0430_uc002ddq.2_Silent_p.L1402L|KIAA0430_uc010uzv.1_Silent_p.L1564L|KIAA0430_uc010uzw.1_Silent_p.L1567L NM_014647 NP_055462 Q9Y4F3 LKAP_HUMAN limkain b1 1567 peroxisome nucleotide binding|RNA binding 0 GGGAGAGACTGAGTGAACTCA 0.552 NA 22 74 0 0 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77397755 77397755 + Missense_Mutation SNP T T G TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr16:77397755T>G uc002ffc.3 - 6 1419 c.1000A>C c.(1000-1002)ATT>CTT p.I334L ADAMTS18_uc010chc.1_5'UTR|ADAMTS18_uc002ffe.1_Missense_Mutation_p.I30L|ADAMTS18_uc010vni.1_RNA NM_199355 NP_955387 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 334 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1) 18 TCACTTCCAATAGTCCCATCT 0.368 NA 8 41 0 0 0 0 RNMTL1 55178 broad.mit.edu 37 17 691248 691248 + Silent SNP G G A TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr17:691248G>A uc002frw.2 + 3 709 c.603G>A c.(601-603)AAG>AAA p.K201K NM_018146 NP_060616 Q9HC36 RMTL1_HUMAN RNA methyltransferase like 1 201 RNA processing protein binding|RNA binding|RNA methyltransferase activity ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (25;0.0219) CATATCCAAAGACTCAGCTTC 0.483 NA 14 187 0 0 0 0 MNT 4335 broad.mit.edu 37 17 2298243 2298243 + Silent SNP T T G TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr17:2298243T>G uc002fur.2 - 2 831 c.579A>C c.(577-579)CCA>CCC p.P193P NM_020310 NP_064706 Q99583 MNT_HUMAN MAX binding protein 193 multicellular organismal development|negative regulation of cell proliferation|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity skin(1) 1 Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05) CCAGCGTGGGTGGGGGCGGCT 0.672 NA 4 13 0 0 0 0 NEURL4 84461 broad.mit.edu 37 17 7230951 7230951 + Missense_Mutation SNP C C A TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr17:7230951C>A uc002gga.1 - 2 542 c.535G>T c.(535-537)GGT>TGT p.G179C NEURL4_uc002ggb.1_Missense_Mutation_p.G179C|NEURL4_uc002ggc.1_5'Flank NM_032442 NP_115818 Q96JN8 NEUL4_HUMAN neuralized homolog 4 isoform 1 179 NHR 1. protein binding upper_aerodigestive_tract(1)|ovary(1) 2 GCAGCCACACCGCAATCCCGC 0.652 NA 32 43 2.2e-25 2.56e-25 1 0 TP53 7157 broad.mit.edu 37 17 7577547 7577547 + Missense_Mutation SNP C C A rs121912656 TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr17:7577547C>A uc002gim.2 - 7 928 c.734G>T c.(733-735)GGC>GTC p.G245V TP53_uc002gig.1_Missense_Mutation_p.G245V|TP53_uc002gih.2_Missense_Mutation_p.G245V|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.G113V|TP53_uc010cng.1_Missense_Mutation_p.G113V|TP53_uc002gii.1_Missense_Mutation_p.G113V|TP53_uc010cnh.1_Missense_Mutation_p.G245V|TP53_uc010cni.1_Missense_Mutation_p.G245V|TP53_uc002gij.2_Missense_Mutation_p.G245V|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.G152V|TP53_uc002gio.2_Missense_Mutation_p.G113V NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 245 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> A (in sporadic cancers; somatic mutation).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.G245S(274)|p.G245D(93)|p.G245V(50)|p.G245C(47)|p.G245R(10)|p.G245A(8)|p.0?(7)|p.G245G(3)|p.G245fs*2(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245del(1)|p.C242fs*98(1)|p.G245fs*22(1)|p.M243fs*18(1)|p.S241_G245delSCMGG(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(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) CCGGTTCATGCCGCCCATGCA 0.582 111 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) 40 42 1.63e-23 1.89e-23 1 0 WRAP53 55135 broad.mit.edu 37 17 7592167 7592167 + Silent SNP A A G TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr17:7592167A>G uc010vuh.1 + 2 356 c.201A>G c.(199-201)CTA>CTG p.L67L WRAP53_uc010vui.1_Silent_p.L67L|WRAP53_uc002gip.2_Silent_p.L67L|WRAP53_uc002gir.2_Silent_p.L67L|WRAP53_uc002giq.2_RNA|WRAP53_uc010cnl.2_Silent_p.L67L|TP53_uc010cnh.1_5'Flank|TP53_uc010cni.1_5'Flank|TP53_uc002gim.2_5'Flank|TP53_uc002gij.2_5'Flank|TP53_uc002gin.2_5'Flank|TP53_uc002gio.2_5'Flank|TP53_uc010vug.1_5'Flank|TP53_uc010cnk.1_5'Flank NM_001143990 NP_001137462 Q9BUR4 WAP53_HUMAN WD repeat domain 79 isoform 2 67 positive regulation of telomerase activity|telomere formation via telomerase Cajal body|cytoplasm|telomerase holoenzyme complex protein binding|RNA binding 0 CCCAGGAGCTACGGGAGGGGG 0.577 NA 29 90 0 0 0 0 PER1 5187 broad.mit.edu 37 17 8047060 8047060 + Missense_Mutation SNP T T G TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr17:8047060T>G uc002gkd.2 - 19 2834 c.2596A>C c.(2596-2598)ACC>CCC p.T866P PER1_uc010cns.2_5'Flank|PER1_uc010vuq.1_Intron NM_002616 NP_002607 O15534 PER1_HUMAN period 1 866 Pro-rich. circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity lung(2)|breast(2)|skin(2)|large_intestine(1)|ovary(1)|kidney(1) 9 GGCCAGGGGGTGGAGGGTGGC 0.667 NA T ETV6 AML|CMML Other_conserved_DNA_damage_response_genes 4 24 0 0 0 0 MYH8 4626 broad.mit.edu 37 17 10293886 10293886 + Missense_Mutation SNP C C G TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr17:10293886C>G uc002gmm.2 - 40 5794 c.5699G>C c.(5698-5700)CGC>CCC p.R1900P uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, 1900 Potential. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle skin(6)|ovary(3)|breast(2) 11 CTGGAGTTTGCGGAATTTAGA 0.453 NA Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling 19 143 0 0 0 0 FLII 2314 broad.mit.edu 37 17 18156743 18156743 + Silent SNP C C T TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr17:18156743C>T uc002gsr.1 - 9 936 c.885G>A c.(883-885)AAG>AAA p.K295K FLII_uc002gsq.1_Silent_p.K167K|FLII_uc010cpy.1_Silent_p.K284K|FLII_uc010vxn.1_Silent_p.K264K|FLII_uc010vxo.1_Silent_p.K241K|FLII_uc002gss.1_Silent_p.K295K NM_002018 NP_002009 Q13045 FLII_HUMAN flightless I homolog 295 Interaction with LRRFIP1 and LRRFIP2.|LRR 13. multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleus actin binding central_nervous_system(1)|skin(1) 2 all_neural(463;0.228) GGTACAGCTTCTTCAGCTTGC 0.587 NA 29 61 0 0 0 0 C17orf79 55352 broad.mit.edu 37 17 30179963 30179963 + Missense_Mutation SNP C C G TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr17:30179963C>G uc002hgp.2 - 3 361 c.253G>C c.(253-255)GAG>CAG p.E85Q C17orf79_uc010css.2_RNA NM_018405 NP_060875 Q9NQ92 COPR5_HUMAN chromosome 17 open reading frame 79 85 histone H4-R3 methylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus histone binding 0 all_cancers(10;4.54e-07)|all_hematologic(16;0.0216)|Acute lymphoblastic leukemia(14;0.0255)|Myeloproliferative disorder(56;0.0393)|Ovarian(249;0.1) TCAGAGTCCTCCTCATCCATG 0.522 NA 26 243 0 0 0 0 CCL15 6359 broad.mit.edu 37 17 34325338 34325338 + Missense_Mutation SNP C C T TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr17:34325338C>T uc010wcu.1 - 3 795 c.226G>A c.(226-228)GAG>AAG p.E76K CCL14-CCL15_uc010wcs.1_RNA|CCL14-CCL15_uc010wct.1_RNA NM_032965 NP_116741 Q16663 CCL15_HUMAN chemokine (C-C motif) ligand 15 precursor 76 cell-cell signaling|cellular calcium ion homeostasis|immune response extracellular space chemoattractant activity|chemokine activity|heparin binding|signal transducer activity ovary(1) 1 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) TTGGAGCACTCGCTGCTCGTT 0.522 NA 3 41 0 0 0 0 THRA 7067 broad.mit.edu 37 17 38240101 38240101 + Missense_Mutation SNP G G A TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr17:38240101G>A uc002htw.2 + 5 719 c.236G>A c.(235-237)CGC>CAC p.R79H THRA_uc010cwp.1_Missense_Mutation_p.R79H|THRA_uc002htv.2_Missense_Mutation_p.R79H|THRA_uc002htx.2_Missense_Mutation_p.R79H NM_003250 NP_003241 P10827 THA_HUMAN thyroid hormone receptor, alpha isoform 2 79 Nuclear receptor. negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter cytosol|nucleoplasm protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding 0 Colorectal(19;0.000442) Myeloproliferative disorder(1115;0.0255) Levothyroxine(DB00451)|Liothyronine(DB00279) TTCTTTCGCCGCACAATCCAG 0.547 NA 4 105 0 0 0 0 ABCA10 10349 broad.mit.edu 37 17 67189687 67189687 + Missense_Mutation SNP C C A TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr17:67189687C>A uc010dfa.1 - 15 2467 c.1588G>T c.(1588-1590)GGT>TGT p.G530C ABCA10_uc010wqt.1_RNA|ABCA10_uc010dfb.1_Missense_Mutation_p.G131C NM_080282 NP_525021 Q8WWZ4 ABCAA_HUMAN ATP-binding cassette, sub-family A, member 10 530 ABC transporter 1. transport integral to membrane ATP binding|ATPase activity ovary(2)|central_nervous_system(1)|skin(1) 4 Breast(10;6.95e-12) TTCTGCCCACCACTTAATTTT 0.299 NA 7 13 0.000274275 0.000290048 1 0 SETBP1 26040 broad.mit.edu 37 18 42530201 42530201 + Missense_Mutation SNP C C G TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr18:42530201C>G uc010dni.2 + 4 1192 c.896C>G c.(895-897)CCA>CGA p.P299R NM_015559 NP_056374 Q9Y6X0 SETBP_HUMAN SET binding protein 1 isoform a 299 nucleus DNA binding upper_aerodigestive_tract(2)|large_intestine(1) 3 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) CACAGCTCACCAGCCCCACCC 0.572 NA Schinzel-Giedion_syndrome 12 59 0 0 0 0 MATK 4145 broad.mit.edu 37 19 3779783 3779783 + Missense_Mutation SNP C C T TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr19:3779783C>T uc002lyt.2 - 9 1155 c.755G>A c.(754-756)GGT>GAT p.G252D MATK_uc002lyv.2_Missense_Mutation_p.G253D|MATK_uc002lyu.2_Missense_Mutation_p.G211D|MATK_uc010dtq.2_Missense_Mutation_p.G252D NM_139355 NP_647612 P42679 MATK_HUMAN megakaryocyte-associated tyrosine kinase isoform 252 Protein kinase. cell proliferation|mesoderm development|positive regulation of cell proliferation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity stomach(2)|ovary(1)|lung(1)|large_intestine(1) 5 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18) CAGGTACTCACCCTGCAGGAC 0.627 NA 8 64 0 0 0 0 MAP2K2 5605 broad.mit.edu 37 19 4110577 4110577 + Missense_Mutation SNP G G A TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr19:4110577G>A uc002lzk.2 - 3 634 c.380C>T c.(379-381)TCG>TTG p.S127L NM_030662 NP_109587 P36507 MP2K2_HUMAN mitogen-activated protein kinase kinase 2 127 Protein kinase. activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|extracellular region ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18) GATGTACGGCGAGTTGCATTC 0.612 NA Cardiofaciocutaneous_syndrome 8 48 0 0 0 0 ZNF441 126068 broad.mit.edu 37 19 11888528 11888528 + Missense_Mutation SNP A A G TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr19:11888528A>G uc010dyj.2 + 2 300 c.106A>G c.(106-108)ACC>GCC p.T36A ZNF441_uc002msn.3_5'UTR NM_152355 NP_689568 Q8N8Z8 ZN441_HUMAN zinc finger protein 441 36 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GATGCAGGAAACCATCAGAAA 0.423 NA 10 45 0 0 0 0 ABHD8 79575 broad.mit.edu 37 19 17411962 17411962 + Missense_Mutation SNP T T C TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr19:17411962T>C uc002ngb.3 - 2 704 c.464A>G c.(463-465)AAG>AGG p.K155R NM_024527 NP_078803 Q96I13 ABHD8_HUMAN abhydrolase domain containing 8 155 hydrolase activity 0 GATGGTCCTCTTGGGGCGCCT 0.473 NA 13 45 0 0 0 0 ZNF493 284443 broad.mit.edu 37 19 21606158 21606158 + Missense_Mutation SNP A A T TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr19:21606158A>T uc002npx.2 + 2 593 c.313A>T c.(313-315)ACT>TCT p.T105S ZNF493_uc002npw.2_Missense_Mutation_p.T233S|ZNF493_uc002npy.2_Missense_Mutation_p.T105S NM_175910 NP_787106 Q6ZR52 ZN493_HUMAN zinc finger protein 493 isoform 1 105 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GAGAGTTCATACTGGAGAGAA 0.368 NA 17 47 0 0 0 0 ZNF99 7652 broad.mit.edu 37 19 22939994 22939994 + Silent SNP A A G TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr19:22939994A>G uc010xrh.1 - 6 2337 c.2337T>C c.(2335-2337)TGT>TGC p.C779C NM_001080409 NP_001073878 zinc finger protein 99 ovary(1)|skin(1) 2 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) AAGCTTTGCCACATTCTTCAC 0.373 NA 8 65 0 0 0 0 CD22 933 broad.mit.edu 37 19 35832025 35832025 + Silent SNP C C T TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr19:35832025C>T uc010edt.2 + 7 1568 c.1491C>T c.(1489-1491)GTC>GTT p.V497V CD22_uc010xst.1_Silent_p.V325V|CD22_uc010edu.2_Silent_p.V409V|CD22_uc010edv.2_Silent_p.V497V|CD22_uc002nzb.3_Silent_p.V320V|CD22_uc010edx.2_RNA NM_001771 NP_001762 P20273 CD22_HUMAN CD22 molecule precursor 497 Extracellular (Potential).|Ig-like C2-type 4. cell adhesion protein binding|sugar binding ovary(5)|lung(3)|breast(1) 9 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) OspA lipoprotein(DB00045) CCTCCCCTGTCGCCCTGAATG 0.627 NA 36 64 0 0 0 0 NLRP8 126205 broad.mit.edu 37 19 56473581 56473581 + Missense_Mutation SNP C C G TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr19:56473581C>G uc002qmh.2 + 4 2262 c.2191C>G c.(2191-2193)CAG>GAG p.Q731E NLRP8_uc010etg.2_Missense_Mutation_p.Q731E NM_176811 NP_789781 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 731 cytoplasm ATP binding ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1) 13 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) GAGGCACCCTCAGTGCAAACT 0.478 NA 17 68 0 0 0 0 ZIM3 114026 broad.mit.edu 37 19 57646638 57646638 + Missense_Mutation SNP A A C TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr19:57646638A>C uc002qnz.1 - 5 1453 c.1067T>G c.(1066-1068)ATT>AGT p.I356S NM_052882 NP_443114 Q96PE6 ZIM3_HUMAN zinc finger, imprinted 3 356 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1)|skin(1) 2 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CCCAGTGTGAATTTTCTCATG 0.388 NA 21 133 0 0 0 0 SLC1A4 6509 broad.mit.edu 37 2 65245229 65245229 + Missense_Mutation SNP G G A TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr2:65245229G>A uc010yqa.1 + 6 1381 c.1059G>A c.(1057-1059)ATG>ATA p.M353I SLC1A4_uc010ypy.1_Missense_Mutation_p.M133I|SLC1A4_uc010ypz.1_Missense_Mutation_p.M55I|SLC1A4_uc010fcv.2_Missense_Mutation_p.M353I|SLC1A4_uc002sdh.2_Missense_Mutation_p.M133I NM_003038 NP_003029 P43007 SATT_HUMAN solute carrier family 1, member 4 isoform 1 353 cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic intermediate filament|melanosome chloride channel activity|L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|sodium:dicarboxylate symporter activity pancreas(1) 1 L-Alanine(DB00160) CCTCTATGATGAAGTGCATTG 0.517 NA 36 88 0 0 0 0 AFF3 3899 broad.mit.edu 37 2 100210748 100210748 + Nonsense_Mutation SNP C C A TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr2:100210748C>A uc002tag.2 - 14 1611 c.1375G>T c.(1375-1377)GAA>TAA p.E459* AFF3_uc002taf.2_Nonsense_Mutation_p.E484*|AFF3_uc010fiq.1_Nonsense_Mutation_p.E459*|AFF3_uc010yvr.1_Nonsense_Mutation_p.E612*|AFF3_uc002tah.1_Nonsense_Mutation_p.E484* NM_002285 NP_002276 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 isoform 1 459 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1) 6 GATGCCGGTTCAGCCTGAAAG 0.433 NA 33 186 8.53e-09 9.54e-09 1 0 ACMSD 130013 broad.mit.edu 37 2 135621074 135621074 + Missense_Mutation SNP A A G TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr2:135621074A>G uc002ttz.2 + 5 426 c.359A>G c.(358-360)CAG>CGG p.Q120R ACMSD_uc002tua.2_Missense_Mutation_p.Q62R NM_138326 NP_612199 Q8TDX5 ACMSD_HUMAN aminocarboxymuconate semialdehyde decarboxylase 120 quinolinate metabolic process|tryptophan catabolic process cytosol aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.115) TTGCCCATGCAGGCCCCTGAG 0.587 NA 3 73 0 0 0 0 SCN1A 6323 broad.mit.edu 37 2 166897962 166897962 + Missense_Mutation SNP G G T TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr2:166897962G>T uc010zcz.1 - 13 2179 c.2161C>A c.(2161-2163)CAG>AAG p.Q721K SCN1A_uc002udo.3_Missense_Mutation_p.Q601K|SCN1A_uc010fpk.2_Missense_Mutation_p.Q573K NM_006920 NP_008851 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha 732 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|skin(6)|large_intestine(1) 13 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) GGGCATTTCTGCCTGGATTCT 0.323 NA 32 56 1.37e-20 1.58e-20 1 0 TTN 7273 broad.mit.edu 37 2 179582358 179582358 + Missense_Mutation SNP C C T TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr2:179582358C>T uc010zfg.1 - 84 21735 c.21511G>A c.(21511-21513)GCA>ACA p.A7171T TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.A3832T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 8098 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) TGAAGAGTTGCTACATTATGA 0.428 NA 4 21 0 0 0 0 SPAG16 79582 broad.mit.edu 37 2 215274872 215274872 + Silent SNP T T C TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr2:215274872T>C uc002veq.2 + 16 1821 c.1729T>C c.(1729-1731)TTA>CTA p.L577L SPAG16_uc002ver.2_Silent_p.L523L|SPAG16_uc010zjk.1_Silent_p.L483L|VWC2L_uc002vet.2_5'Flank|VWC2L_uc010zjl.1_5'Flank NM_024532 NP_078808 Q8N0X2 SPG16_HUMAN sperm associated antigen 16 isoform 1 577 WD 6. cilium assembly cilium axoneme|flagellar axoneme ovary(1)|skin(1) 2 Renal(323;0.00461) UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599) AGGTCGAGTTTTAGCTCAGGC 0.408 NA 21 47 0 0 0 0 DOCK10 55619 broad.mit.edu 37 2 225652094 225652094 + Silent SNP T T C TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr2:225652094T>C uc010fwz.1 - 49 5678 c.5439A>G c.(5437-5439)CTA>CTG p.L1813L DOCK10_uc002vob.2_Silent_p.L1807L|DOCK10_uc002voa.2_Silent_p.L469L|DOCK10_uc002voc.2_Silent_p.L634L NM_014689 NP_055504 Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 1813 DHR-2. GTP binding ovary(2) 2 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) CACACATGTATAGCTGCTCCA 0.428 NA 65 174 0 0 0 0 TRIP12 9320 broad.mit.edu 37 2 230663654 230663654 + Missense_Mutation SNP G G A TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr2:230663654G>A uc002vpw.1 - 22 3303 c.3194C>T c.(3193-3195)GCA>GTA p.A1065V TRIP12_uc002vpx.1_Missense_Mutation_p.A1113V|TRIP12_uc002vpy.1_Missense_Mutation_p.A795V|TRIP12_uc010zlz.1_RNA NM_004238 NP_004229 Q14669 TRIPC_HUMAN thyroid hormone receptor interactor 12 1065 protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1) 9 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) CGCAGTCCGTGCTGGCTCAAT 0.478 NA 19 52 0 0 0 0 TMC2 117532 broad.mit.edu 37 20 2542577 2542577 + Nonsense_Mutation SNP C C T TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr20:2542577C>T uc002wgf.1 + 4 490 c.475C>T c.(475-477)CAG>TAG p.Q159* TMC2_uc002wgg.1_Nonsense_Mutation_p.Q143*|TMC2_uc010zpw.1_5'UTR|TMC2_uc010zpx.1_5'UTR NM_080751 NP_542789 Q8TDI7 TMC2_HUMAN transmembrane cochlear-expressed protein 2 159 Arg/Asp/Glu/Lys-rich (highly charged).|Cytoplasmic (Potential). integral to membrane ovary(3) 3 GATCCTGGAGCAGGTGGAAGA 0.627 NA 13 70 0 0 0 0 ATRN 8455 broad.mit.edu 37 20 3541513 3541513 + Missense_Mutation SNP C C G TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr20:3541513C>G uc002wim.2 + 8 1498 c.1408C>G c.(1408-1410)CTC>GTC p.L470V ATRN_uc002wil.2_Missense_Mutation_p.L470V NM_139321 NP_647537 O75882 ATRN_HUMAN attractin isoform 1 470 Extracellular (Potential).|Kelch 3. inflammatory response extracellular space|integral to plasma membrane receptor activity|sugar binding ovary(1)|breast(1) 2 TCACTGCCCTCTCTATGGATA 0.418 NA 5 66 0 0 0 0 PLCB1 23236 broad.mit.edu 37 20 8352093 8352093 + Missense_Mutation SNP C C G TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr20:8352093C>G uc002wnb.2 + 3 245 c.242C>G c.(241-243)CCC>CGC p.P81R PLCB1_uc010zrb.1_5'UTR|PLCB1_uc010gbv.1_Missense_Mutation_p.P81R|PLCB1_uc002wmz.1_Missense_Mutation_p.P81R|PLCB1_uc002wna.2_Missense_Mutation_p.P81R NM_015192 NP_056007 Q9NQ66 PLCB1_HUMAN phosphoinositide-specific phospholipase C beta 1 81 activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1) 12 GCCAAAGCTCCCAAGGTAGGA 0.458 NA 9 51 0 0 0 0 KIF16B 55614 broad.mit.edu 37 20 16359581 16359581 + Missense_Mutation SNP G G C TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr20:16359581G>C uc002wpg.1 - 19 3224 c.3066C>G c.(3064-3066)CAC>CAG p.H1022Q KIF16B_uc002wpe.1_Missense_Mutation_p.H404Q|KIF16B_uc002wpf.1_Missense_Mutation_p.H404Q|KIF16B_uc010gch.1_Missense_Mutation_p.H1022Q|KIF16B_uc010gci.1_Missense_Mutation_p.H1022Q|KIF16B_uc010gcj.1_Missense_Mutation_p.H1033Q NM_024704 NP_078980 Q96L93 KI16B_HUMAN kinesin-like motor protein C20orf23 1022 Glu-rich.|Potential. cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling early endosome membrane|microtubule ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity p.H1022Q(1) skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1) 8 CCAGGGTGGAGTGCCTCTGCA 0.597 NA 6 106 0 0 0 0 RBM39 9584 broad.mit.edu 37 20 34317447 34317447 + Missense_Mutation SNP G G A TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr20:34317447G>A uc002xeb.2 - 5 643 c.299C>T c.(298-300)TCC>TTC p.S100F RBM39_uc002xdz.2_Missense_Mutation_p.S76F|RBM39_uc002xea.2_5'UTR|RBM39_uc010gfn.2_5'UTR|RBM39_uc010zvm.1_Intron|RBM39_uc002xeg.2_Intron|RBM39_uc002xec.2_Missense_Mutation_p.S100F|RBM39_uc002xed.2_5'UTR|RBM39_uc002xee.2_5'UTR|RBM39_uc002xef.2_5'UTR|RBM39_uc010zvn.1_5'UTR NM_184234 NP_909122 Q14498 RBM39_HUMAN RNA binding motif protein 39 isoform a 100 mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent centrosome|nuclear speck nucleotide binding|protein binding|RNA binding ovary(1)|central_nervous_system(1) 2 all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676) TTTTGGTCCGGAGCTAAAAAG 0.373 NA 4 53 0 0 0 0 ADAMTS1 9510 broad.mit.edu 37 21 28216933 28216933 + Missense_Mutation SNP G G A TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr21:28216933G>A uc002ymf.2 - 1 796 c.341C>T c.(340-342)CCG>CTG p.P114L NM_006988 NP_008919 Q9UHI8 ATS1_HUMAN ADAM metallopeptidase with thrombospondin type 1 114 integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis heparin binding|zinc ion binding lung(3)|large_intestine(2)|central_nervous_system(1) 6 Breast(209;0.000962) Lung(58;0.215) TTCCGGAAGCGGCGTCTCGGA 0.677 NA OREG0026151 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 16 0 0 0 0 KRTAP10-11 386678 broad.mit.edu 37 21 46066855 46066855 + Silent SNP C C T TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr21:46066855C>T uc002zfr.3 + 1 525 c.480C>T c.(478-480)ACC>ACT p.T160T C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198692 NP_941965 P60412 KR10B_HUMAN keratin associated protein 10-11 160 25 X 5 AA repeats of C-C-X(3).|15. keratin filament ovary(1) 1 GTGTGTCCACCTGCTCTGAGG 0.383 NA 86 157 0 0 0 0 EFCAB6 64800 broad.mit.edu 37 22 43926760 43926760 + Missense_Mutation SNP G G A TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr22:43926760G>A uc003bdy.1 - 31 4533 c.4318C>T c.(4318-4320)CGG>TGG p.R1440W EFCAB6_uc003bdz.1_Missense_Mutation_p.R1288W|EFCAB6_uc010gzi.1_Missense_Mutation_p.R1288W NM_022785 NP_073622 Q5THR3 EFCB6_HUMAN CAP-binding protein complex interacting protein 1440 Interaction with AR.|EF-hand 16.|Interaction with PARK7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 7 Ovarian(80;0.0247)|all_neural(38;0.025) AACGTGCGCCGCATTGGCCTC 0.562 NA 4 108 0 0 0 0 SAPS2 9701 broad.mit.edu 37 22 50862016 50862016 + Silent SNP C C T TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr22:50862016C>T uc003blb.1 + 11 1520 c.1098C>T c.(1096-1098)TGC>TGT p.C366C SAPS2_uc003bky.1_Silent_p.C366C|SAPS2_uc003bkz.1_Silent_p.C366C|SAPS2_uc003blc.2_Silent_p.C366C|SAPS2_uc003bla.1_Silent_p.C367C|uc011arw.1_5'Flank NM_014678 NP_055493 O75170 PP6R2_HUMAN SAPS domain family, member 2 366 cytoplasm|intracellular membrane-bounded organelle protein binding 0 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.222) AGGAGCTCTGCCGGCTCAACA 0.627 NA 6 49 0 0 0 0 HACL1 26061 broad.mit.edu 37 3 15609397 15609397 + Missense_Mutation SNP C C T TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr3:15609397C>T uc003caf.2 - 14 1523 c.1363G>A c.(1363-1365)GAC>AAC p.D455N HACL1_uc011avr.1_RNA|HACL1_uc011avs.1_Missense_Mutation_p.D428N|HACL1_uc011avt.1_Missense_Mutation_p.D395N|HACL1_uc003cag.2_Missense_Mutation_p.D99N|HACL1_uc011avu.1_Missense_Mutation_p.D373N|HACL1_uc010hep.2_Missense_Mutation_p.D214N NM_012260 NP_036392 Q9UJ83 HACL1_HUMAN 2-hydroxyphytanoyl-CoA lyase 455 Thiamine pyrophosphate binding. Magnesium (By similarity). fatty acid alpha-oxidation peroxisomal matrix carbon-carbon lyase activity|identical protein binding|magnesium ion binding|thiamine pyrophosphate binding 0 AATGCACTGTCTCCTTCCACA 0.443 NA 19 210 0 0 0 0 CELSR3 1951 broad.mit.edu 37 3 48691215 48691215 + Missense_Mutation SNP G G A TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr3:48691215G>A uc003cul.2 - 9 5566 c.5285C>T c.(5284-5286)GCC>GTC p.A1762V CELSR3_uc003cuf.1_Missense_Mutation_p.A1832V|CELSR3_uc010hkg.2_5'Flank NM_001407 NP_001398 Q9NYQ7 CELR3_HUMAN cadherin EGF LAG seven-pass G-type receptor 3 1762 Extracellular (Potential). homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2) 11 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) GTGGGGATGGGCCATAGCTGA 0.577 NA 4 71 0 0 0 0 NCKIPSD 51517 broad.mit.edu 37 3 48719836 48719836 + Missense_Mutation SNP C C T TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr3:48719836C>T uc003cun.2 - 3 525 c.431G>A c.(430-432)CGG>CAG p.R144Q NCKIPSD_uc003cum.2_Missense_Mutation_p.R144Q|NCKIPSD_uc010hkh.1_Missense_Mutation_p.R144Q NM_016453 NP_057537 Q9NZQ3 SPN90_HUMAN NCK interacting protein with SH3 domain isoform 144 cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction intermediate filament|nucleus cytoskeletal protein binding|SH3 domain binding 0 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) GCTGTGCTGCCGCTCGAACCC 0.597 NA 14 133 0 0 0 0 CACNA2D3 55799 broad.mit.edu 37 3 54913049 54913049 + Missense_Mutation SNP G G C TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr3:54913049G>C uc003dhf.2 + 19 1763 c.1715G>C c.(1714-1716)AGA>ACA p.R572T CACNA2D3_uc011beu.1_RNA|CACNA2D3_uc003dhg.1_Missense_Mutation_p.R478T|CACNA2D3_uc003dhh.1_RNA|CACNA2D3_uc010hmv.1_Missense_Mutation_p.R306T|uc003dhk.1_Intron NM_018398 NP_060868 Q8IZS8 CA2D3_HUMAN calcium channel, voltage-dependent, alpha 572 Extracellular (Potential). integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity large_intestine(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 7 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) TTTTAGTTGAGAAATGCTATG 0.408 NA 3 26 0 0 0 0 CADM2 253559 broad.mit.edu 37 3 85961658 85961658 + Missense_Mutation SNP C C G TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr3:85961658C>G uc003dqj.2 + 5 1264 c.638C>G c.(637-639)ACC>AGC p.T213S CADM2_uc003dqk.2_Missense_Mutation_p.T222S|CADM2_uc003dql.2_Missense_Mutation_p.T215S NM_153184 NP_694854 Q8N3J6 CADM2_HUMAN immunoglobulin superfamily, member 4D 213 Ig-like C2-type 1.|Extracellular (Potential). adherens junction organization|cell junction assembly integral to membrane|plasma membrane ovary(1)|lung(1)|kidney(1)|skin(1) 4 Lung NSC(201;0.0148) LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157) CTCAATGCCACCCCTCAGGTA 0.488 NA 13 30 0 0 0 0 KALRN 8997 broad.mit.edu 37 3 124415027 124415027 + Missense_Mutation SNP G G C TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr3:124415027G>C uc003ehg.2 + 54 7751 c.7624G>C c.(7624-7626)GAC>CAC p.D2542H KALRN_uc003ehk.2_Missense_Mutation_p.D845H NM_001024660 NP_001019831 O60229 KALRN_HUMAN kalirin, RhoGEF kinase isoform 1 2541 Ig-like C2-type. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1) 6 GATGCCCCAAGACAGTGGGAT 0.463 NA 23 154 0 0 0 0 GATA2 2624 broad.mit.edu 37 3 128199926 128199926 + Missense_Mutation SNP T T G TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr3:128199926T>G uc003ekm.3 - 7 1814 c.1379A>C c.(1378-1380)CAC>CCC p.H460P GATA2_uc003ekn.3_Missense_Mutation_p.H446P|GATA2_uc003eko.2_Missense_Mutation_p.H460P NM_001145661 NP_001139133 P23769 GATA2_HUMAN GATA binding protein 2 isoform 1 460 blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter nucleoplasm C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding haematopoietic_and_lymphoid_tissue(13)|lung(1)|skin(1) 15 GBM - Glioblastoma multiforme(114;0.173) GGAGGAGGGGTGGATGGGCGT 0.687 NA Mis AML(CML blast transformation) 8 56 0 0 0 0 GK5 256356 broad.mit.edu 37 3 141884493 141884493 + Missense_Mutation SNP G G A TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr3:141884493G>A uc003euq.1 - 16 1692 c.1561C>T c.(1561-1563)CGC>TGC p.R521C GK5_uc003eup.1_Missense_Mutation_p.R242C|GK5_uc010hus.1_RNA NM_001039547 NP_001034636 Q6ZS86 GLPK5_HUMAN glycerol kinase 5 (putative) 521 glycerol metabolic process ATP binding|glycerol kinase activity 0 TTCATGGAGCGTTTCACTGCT 0.393 NA 19 146 0 0 0 0 KCNAB1 7881 broad.mit.edu 37 3 155838565 155838565 + Silent SNP C C G TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr3:155838565C>G uc003far.2 + 1 229 c.165C>G c.(163-165)CTC>CTG p.L55L KCNAB1_uc011bon.1_Silent_p.L55L NM_172160 NP_751892 Q14722 KCAB1_HUMAN potassium voltage-gated channel, shaker-related 55 cytoplasm|integral to membrane oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity ovary(3)|skin(1) 4 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) AAAGCCAGCTCAGGGCGCGTC 0.557 NA 10 61 0 0 0 0 SPATA16 83893 broad.mit.edu 37 3 172643242 172643242 + Missense_Mutation SNP C C A TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr3:172643242C>A uc003fin.3 - 7 1280 c.1122G>T c.(1120-1122)TGG>TGT p.W374C NM_031955 NP_114161 Q9BXB7 SPT16_HUMAN spermatogenesis associated 16 374 cell differentiation|multicellular organismal development|spermatogenesis Golgi apparatus binding ovary(2)|skin(1) 3 Ovarian(172;0.00319)|Breast(254;0.197) LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14) GAAAAGATGACCAGTCAACTG 0.368 NA 16 68 5.35e-07 5.93e-07 1 0 ZNF721 170960 broad.mit.edu 37 4 436363 436363 + Silent SNP C C T TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr4:436363C>T uc003gag.2 - 3 2584 c.1893G>A c.(1891-1893)CAG>CAA p.Q631Q ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.1_Intron|ABCA11P_uc003gae.2_Intron|ABCA11P_uc010ibd.1_Intron|ZNF721_uc003gaf.3_Silent_p.Q663Q|ZNF721_uc010ibe.2_Silent_p.Q619Q NM_133474 NP_597731 D9N162 D9N162_HUMAN zinc finger protein 721 631 intracellular nucleic acid binding|zinc ion binding ovary(1) 1 AAATTTTCTTCTGTTGATTCA 0.403 NA 29 285 0 0 0 0 TADA2B 93624 broad.mit.edu 37 4 7056454 7056454 + Silent SNP G G A TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr4:7056454G>A uc003gjw.3 + 2 1087 c.936G>A c.(934-936)CGG>CGA p.R312R TADA2B_uc010idi.2_Silent_p.R237R NM_152293 NP_689506 Q86TJ2 TAD2B_HUMAN transcriptional adaptor 2 (ADA2 homolog, 312 regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|zinc ion binding 0 AGGCAGCGCGGCATAAACGGG 0.557 NA 3 44 0 0 0 0 SLIT2 9353 broad.mit.edu 37 4 20482374 20482374 + Missense_Mutation SNP A A T TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr4:20482374A>T uc003gpr.1 + 6 707 c.503A>T c.(502-504)GAT>GTT p.D168V SLIT2_uc003gps.1_Missense_Mutation_p.D168V NM_004787 NP_004778 O94813 SLIT2_HUMAN slit homolog 2 precursor 168 LRR 5. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding central_nervous_system(4)|skin(4)|ovary(3) 11 TGTATTGAAGATGGGGCATTC 0.458 NA 15 70 0 0 0 0 BEND4 389206 broad.mit.edu 37 4 42145927 42145927 + Missense_Mutation SNP G G T TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr4:42145927G>T uc003gwn.2 - 3 1152 c.572C>A c.(571-573)TCC>TAC p.S191Y BEND4_uc003gwm.2_Missense_Mutation_p.S191Y|BEND4_uc011byy.1_Missense_Mutation_p.S191Y NM_207406 NP_997289 Q6ZU67 BEND4_HUMAN BEN domain containing 4 isoform a 191 0 AGAATGGTTGGAGTCCAGGAG 0.468 NA 3 17 0.004672 0.00484775 1 0 WDFY3 23001 broad.mit.edu 37 4 85748035 85748035 + Silent SNP T T A TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr4:85748035T>A uc003hpd.2 - 10 1464 c.1056A>T c.(1054-1056)CCA>CCT p.P352P WDFY3_uc003hpf.2_Silent_p.P352P NM_014991 NP_055806 Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 isoform 352 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding ovary(2)|central_nervous_system(1) 3 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) TAATACCAGCTGGTTTTAGTT 0.438 NA 7 50 0 0 0 0 DKK2 27123 broad.mit.edu 37 4 107847051 107847051 + Missense_Mutation SNP G G A TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr4:107847051G>A uc003hyi.2 - 2 983 c.278C>T c.(277-279)CCC>CTC p.P93L DKK2_uc010ilw.1_RNA|DKK2_uc003hyj.1_Missense_Mutation_p.P93L NM_014421 NP_055236 Q9UBU2 DKK2_HUMAN dickkopf homolog 2 precursor 93 DKK-type Cys-1. multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway extracellular space ovary(3)|lung(1)|skin(1) 5 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;6.34e-06) TCCTTGGTGGGGACTGTGGCA 0.512 NA 3 88 0 0 0 0 NDST4 64579 broad.mit.edu 37 4 115773929 115773929 + Missense_Mutation SNP T T G TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr4:115773929T>G uc003ibu.2 - 8 2447 c.1768A>C c.(1768-1770)ACT>CCT p.T590P NDST4_uc010imw.2_RNA NM_022569 NP_072091 Q9H3R1 NDST4_HUMAN heparan sulfate N-deacetylase/N-sulfotransferase 590 Lumenal (Potential).|Heparan sulfate N-sulfotransferase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity skin(3)|ovary(1) 4 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) TGGTCACAAGTTTTCTCTCTG 0.348 NA 9 28 0 0 0 0 USP53 54532 broad.mit.edu 37 4 120213687 120213687 + Missense_Mutation SNP C C G TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr4:120213687C>G uc003ics.3 + 18 3609 c.2543C>G c.(2542-2544)TCT>TGT p.S848C USP53_uc003icr.3_Missense_Mutation_p.S848C|USP53_uc003icu.3_Missense_Mutation_p.S471C NM_019050 NP_061923 Q70EK8 UBP53_HUMAN ubiquitin specific protease 53 848 ubiquitin-dependent protein catabolic process ubiquitin thiolesterase activity ovary(1)|breast(1)|kidney(1)|skin(1) 4 GTTGATAACTCTGCTTCTGGG 0.393 NA 6 43 0 0 0 0 CCNA2 890 broad.mit.edu 37 4 122742139 122742139 + Missense_Mutation SNP T T G TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr4:122742139T>G uc003iec.3 - 3 870 c.565A>C c.(565-567)ATG>CTG p.M189L NM_001237 NP_001228 P20248 CCNA2_HUMAN cyclin A 189 cell division|mitosis|mitotic cell cycle G2/M transition DNA damage checkpoint|Ras protein signal transduction|regulation of cyclin-dependent protein kinase activity cytoplasm|nucleoplasm protein kinase binding ovary(1) 1 TTTACCTCCATTTCCCTAAGG 0.313 NA 9 77 0 0 0 0 MYO10 4651 broad.mit.edu 37 5 16761646 16761646 + Missense_Mutation SNP C C T TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr5:16761646C>T uc003jft.3 - 17 2134 c.1666G>A c.(1666-1668)GAT>AAT p.D556N MYO10_uc010itx.2_Missense_Mutation_p.D179N NM_012334 NP_036466 Q9HD67 MYO10_HUMAN myosin X 556 Myosin head-like. axon guidance|signal transduction myosin complex actin binding|ATP binding|motor activity ovary(2)|pancreas(1) 3 CCTCGGACATCATATTGCACC 0.383 NA 18 107 0 0 0 0 EGFLAM 133584 broad.mit.edu 37 5 38464020 38464020 + Missense_Mutation SNP G G C TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr5:38464020G>C uc003jlc.1 + 23 3310 c.2986G>C c.(2986-2988)GAT>CAT p.D996H EGFLAM_uc003jlb.1_Missense_Mutation_p.D988H|EGFLAM_uc003jle.1_Missense_Mutation_p.D754H|EGFLAM_uc003jlf.1_Missense_Mutation_p.D354H|EGFLAM_uc003jlg.1_Missense_Mutation_p.D131H|EGFLAM_uc003jlh.1_Missense_Mutation_p.D78H NM_152403 NP_689616 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G 996 Laminin G-like 3. cell junction|proteinaceous extracellular matrix|synapse pancreas(3)|skin(3)|ovary(1) 7 all_lung(31;0.000385) CCTGTCCACCGATTACCACAT 0.512 NA 11 54 0 0 0 0 FBXO4 26272 broad.mit.edu 37 5 41929884 41929884 + Silent SNP C C T TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr5:41929884C>T uc003jmq.2 + 3 567 c.511C>T c.(511-513)CTG>TTG p.L171L FBXO4_uc003jmp.2_Silent_p.L171L|FBXO4_uc003jmr.2_Silent_p.L171L NM_012176 NP_036308 Q9UKT5 FBX4_HUMAN F-box only protein 4 isoform 1 171 positive regulation of protein ubiquitination|protein polyubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|telomere maintenance|ubiquitin-dependent protein catabolic process cytoplasm|SCF ubiquitin ligase complex protein binding|protein homodimerization activity|ubiquitin-protein ligase activity liver(1) 1 Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604) TTTACACTCCCTGATCATTCA 0.403 NA 15 100 0 0 0 0 DDX46 9879 broad.mit.edu 37 5 134121257 134121257 + Missense_Mutation SNP G G C TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr5:134121257G>C uc003kzw.2 + 11 1613 c.1445G>C c.(1444-1446)GGA>GCA p.G482A DDX46_uc003kzv.1_RNA NM_014829 NP_055644 Q7L014 DDX46_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 46 482 Helicase ATP-binding. mRNA processing|RNA splicing Cajal body|nuclear speck ATP binding|ATP-dependent helicase activity|RNA binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GTTTACGGAGGAACAGGAATC 0.363 NA 8 68 0 0 0 0 PCDHGB7 56099 broad.mit.edu 37 5 140798773 140798773 + Silent SNP G G A TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr5:140798773G>A uc003lkn.1 + 1 1492 c.1347G>A c.(1345-1347)GCG>GCA p.A449A PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkm.2_Silent_p.A449A|PCDHGA11_uc003lko.1_5'Flank|PCDHGA11_uc003lkp.1_5'Flank|PCDHGA11_uc003lkq.1_5'Flank NM_018927 NP_061750 Q9Y5F8 PCDGJ_HUMAN protocadherin gamma subfamily B, 7 isoform 1 449 Extracellular (Potential).|Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATGACAACGCGCCGGTTTTCG 0.572 NA 4 49 0 0 0 0 AFAP1L1 134265 broad.mit.edu 37 5 148715178 148715178 + Missense_Mutation SNP A A T TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr5:148715178A>T uc003lqh.2 + 18 2307 c.2176A>T c.(2176-2178)AAC>TAC p.N726Y AFAP1L1_uc010jgy.2_Intron|AFAP1L1_uc003lqi.1_Missense_Mutation_p.N341Y NM_152406 NP_689619 Q8TED9 AF1L1_HUMAN actin filament associated protein 1-like 1 726 protein binding breast(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TAAACCCCAGAACAGCGTTCC 0.488 NA 5 93 0 0 0 0 ATP10B 23120 broad.mit.edu 37 5 160063305 160063305 + Missense_Mutation SNP A A T TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr5:160063305A>T uc003lym.1 - 11 1859 c.1012T>A c.(1012-1014)TGG>AGG p.W338R ATP10B_uc003lyp.2_Missense_Mutation_p.W338R|ATP10B_uc011deg.1_Missense_Mutation_p.W382R|ATP10B_uc003lyn.2_5'Flank|ATP10B_uc003lyo.2_Missense_Mutation_p.W310R NM_025153 NP_079429 O94823 AT10B_HUMAN ATPase, class V, type 10B 338 Helical; (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GTCCCATTCCAGATGCTGTGA 0.493 NA 3 58 0 0 0 0 NRSN1 140767 broad.mit.edu 37 6 24145830 24145830 + Missense_Mutation SNP G G T TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr6:24145830G>T uc010jpq.1 + 4 481 c.244G>T c.(244-246)GTG>TTG p.V82L NM_080723 NP_542454 Q8IZ57 NRSN1_HUMAN neurensin 1 82 Helical; (Potential). nervous system development growth cone|integral to membrane|neuronal cell body|transport vesicle 0 TGTTCTGGCAGTGGGCTTTCT 0.478 NA 14 149 4.37e-10 4.9e-10 1 0 SLC35B2 347734 broad.mit.edu 37 6 44222789 44222789 + Missense_Mutation SNP A A T TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr6:44222789A>T uc003oxd.2 - 4 1089 c.953T>A c.(952-954)CTG>CAG p.L318Q SLC35B2_uc011dvt.1_Missense_Mutation_p.L221Q|SLC35B2_uc011dvu.1_Missense_Mutation_p.L185Q NM_178148 NP_835361 Q8TB61 S35B2_HUMAN solute carrier family 35, member B2 318 Helical; (Potential). positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity ovary(1)|central_nervous_system(1) 2 all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) CTGTTCTAGCAGTGAGCCCAC 0.557 NA 17 37 0 0 0 0 HCRTR2 3062 broad.mit.edu 37 6 55113547 55113547 + Missense_Mutation SNP C C A TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr6:55113547C>A uc003pcl.2 + 2 649 c.334C>A c.(334-336)CTG>ATG p.L112M HCRTR2_uc010jzv.2_RNA|HCRTR2_uc010jzw.1_Missense_Mutation_p.L47M NM_001526 NP_001517 O43614 OX2R_HUMAN orexin receptor 2 112 Extracellular (Potential). feeding behavior integral to plasma membrane neuropeptide receptor activity ovary(2)|lung(2)|upper_aerodigestive_tract(1)|breast(1) 6 Lung NSC(77;0.107)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) TCCAGCCACACTGGTCGTGGA 0.443 NA 18 168 0.000132079 0.000142404 1 0 MDN1 23195 broad.mit.edu 37 6 90425374 90425374 + Silent SNP G G A TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr6:90425374G>A uc003pnn.1 - 45 6974 c.6858C>T c.(6856-6858)TTC>TTT p.F2286F NM_014611 NP_055426 Q9NU22 MDN1_HUMAN MDN1, midasin homolog 2286 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding ovary(8)|skin(2) 10 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) ACAAATACCTGAAATTGGGAT 0.403 NA 10 113 0 0 0 0 FAM184A 79632 broad.mit.edu 37 6 119324126 119324126 + Missense_Mutation SNP C C G TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr6:119324126C>G uc003pyj.2 - 9 2374 c.2026G>C c.(2026-2028)GAT>CAT p.D676H FAM184A_uc003pyk.3_Missense_Mutation_p.D556H|FAM184A_uc003pyl.3_Missense_Mutation_p.D556H NM_024581 NP_078857 Q8NB25 F184A_HUMAN hypothetical protein LOC79632 isoform 1 676 Potential. ovary(2)|central_nervous_system(2)|skin(2)|pancreas(1) 7 TTCTCTCGATCTTTCAACTGC 0.358 NA 11 89 0 0 0 0 L3MBTL3 84456 broad.mit.edu 37 6 130370430 130370430 + Missense_Mutation SNP C C T TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr6:130370430C>T uc003qbt.2 + 4 276 c.106C>T c.(106-108)CGG>TGG p.R36W L3MBTL3_uc003qbu.2_Missense_Mutation_p.R36W NM_032438 NP_115814 Q96JM7 LMBL3_HUMAN l(3)mbt-like 3 isoform a 36 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(5)|skin(1) 6 GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154) TTGCTAGTTTCGGGTAAATGA 0.368 NA 8 25 0 0 0 0 BCLAF1 9774 broad.mit.edu 37 6 136597106 136597106 + Silent SNP C C G TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr6:136597106C>G uc003qgx.1 - 5 1810 c.1557G>C c.(1555-1557)CTG>CTC p.L519L BCLAF1_uc003qgw.1_Silent_p.L346L|BCLAF1_uc003qgy.1_Silent_p.L517L|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Silent_p.L517L NM_014739 NP_055554 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 isoform 519 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding ovary(1) 1 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) CTCGTGCATCCAGATTCTTGT 0.423 NA 12 310 0 0 0 0 GRM1 2911 broad.mit.edu 37 6 146480529 146480529 + Missense_Mutation SNP C C T TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr6:146480529C>T uc010khw.1 + 3 1216 c.746C>T c.(745-747)GCC>GTC p.A249V GRM1_uc010khu.1_Missense_Mutation_p.A249V|GRM1_uc010khv.1_Missense_Mutation_p.A249V|GRM1_uc003qll.2_Missense_Mutation_p.A249V|GRM1_uc011edz.1_Missense_Mutation_p.A249V|GRM1_uc011eea.1_Missense_Mutation_p.A249V NM_000838 NP_000829 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 isoform alpha 249 Extracellular (Potential). synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2) 19 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) GAGCTGGCTGCCCAGGAAGGC 0.507 NA 9 82 0 0 0 0 INTS1 26173 broad.mit.edu 37 7 1528988 1528988 + Silent SNP C C T TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr7:1528988C>T uc003skn.2 - 18 2411 c.2310G>A c.(2308-2310)GTG>GTA p.V770V INTS1_uc003skp.1_Silent_p.V117V NM_001080453 NP_001073922 Q8N201 INT1_HUMAN integrator complex subunit 1 770 snRNA processing integral to membrane|integrator complex|nuclear membrane 0 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15) ACTTGGTCATCACCATCTCCA 0.682 NA 4 17 0 0 0 0 CLIP2 7461 broad.mit.edu 37 7 73790521 73790521 + Missense_Mutation SNP A A G TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr7:73790521A>G uc003uam.2 + 10 2117 c.1790A>G c.(1789-1791)GAC>GGC p.D597G CLIP2_uc003uan.2_Missense_Mutation_p.D562G|CLIP2_uc003uao.2_5'UTR NM_003388 NP_003379 Q9UDT6 CLIP2_HUMAN CAP-GLY domain containing linker protein 2 597 Potential. microtubule associated complex skin(3) 3 GGCCTGAAGGACAAGGTTCAG 0.612 NA 5 21 0 0 0 0 CLIP2 7461 broad.mit.edu 37 7 73795176 73795176 + Missense_Mutation SNP C C T TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr7:73795176C>T uc003uam.2 + 11 2789 c.2462C>T c.(2461-2463)ACG>ATG p.T821M CLIP2_uc003uan.2_Missense_Mutation_p.T786M|CLIP2_uc003uao.2_Missense_Mutation_p.T215M NM_003388 NP_003379 Q9UDT6 CLIP2_HUMAN CAP-GLY domain containing linker protein 2 821 Potential. microtubule associated complex skin(3) 3 ACGATCAGGACGAAGGAAACT 0.602 NA 26 85 0 0 0 0 TRPV5 56302 broad.mit.edu 37 7 142625874 142625874 + Missense_Mutation SNP T T G TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr7:142625874T>G uc003wby.1 - 6 938 c.674A>C c.(673-675)CAT>CCT p.H225P TRPV5_uc003wbz.2_Missense_Mutation_p.H225P NM_019841 NP_062815 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, 225 Cytoplasmic (Potential). protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity ovary(3)|central_nervous_system(2)|skin(1) 6 Melanoma(164;0.059) GTGGTCCCCATGTCCATCGTA 0.567 NA 4 92 0 0 0 0 OR2F2 135948 broad.mit.edu 37 7 143632931 143632931 + Silent SNP T T G TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr7:143632931T>G uc011ktv.1 + 1 606 c.606T>G c.(604-606)TCT>TCG p.S202S NM_001004685 NP_001004685 O95006 OR2F2_HUMAN olfactory receptor, family 2, subfamily F, 202 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|skin(1) 4 Melanoma(164;0.0903) TCATGGTGTCTAGCATTGTTC 0.478 NA 15 56 0 0 0 0 POTEA 340441 broad.mit.edu 37 8 43147925 43147925 + Missense_Mutation SNP A A G TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr8:43147925A>G uc003xpz.1 + 1 341 c.298A>G c.(298-300)AGG>GGG p.R100G POTEA_uc003xqa.1_Missense_Mutation_p.R100G NM_001005365 NP_001005365 Q6S8J7 POTEA_HUMAN POTE ankyrin domain family, member A isoform 2 100 ANK 1. ovary(1) 1 CAAGAAGAAGAGGTAACCGGG 0.627 NA 3 56 0 0 0 0 ATP6V1C1 528 broad.mit.edu 37 8 104054601 104054601 + Missense_Mutation SNP G G A TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr8:104054601G>A uc003ykz.3 + 3 411 c.166G>A c.(166-168)GAT>AAT p.D56N ATP6V1C1_uc010mbz.2_5'UTR|ATP6V1C1_uc003yla.2_Missense_Mutation_p.D56N|ATP6V1C1_uc011lhl.1_Intron NM_001695 NP_001686 P21283 VATC1_HUMAN ATPase, H+ transporting, lysosomal V1 subunit 56 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|plasma membrane|proton-transporting V-type ATPase, V1 domain protein binding|proton-transporting ATPase activity, rotational mechanism 0 Lung NSC(17;0.000427)|all_lung(17;0.000533) OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133) TGGCTTGTCAGATGAACTGGC 0.363 NA 12 128 0 0 0 0 MCART1 92014 broad.mit.edu 37 9 37887716 37887716 + Missense_Mutation SNP G G A TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr9:37887716G>A uc004aau.2 - 3 1576 c.832C>T c.(832-834)CGG>TGG p.R278W MCART1_uc004aar.1_Intron|MCART1_uc004aaq.1_Intron|uc004aat.1_5'Flank|MCART1_uc004aav.2_Missense_Mutation_p.R278W NM_033412 NP_219480 Q9H1U9 MCAR1_HUMAN mitochondrial carrier triple repeat 1 278 Helical; Name=6; (Potential).|Solcar 3. transport integral to membrane|mitochondrial inner membrane ovary(2)|breast(1) 3 GBM - Glioblastoma multiforme(29;0.00559)|Lung(182;0.0422) ATGAGGGACCGATGGTAATTC 0.393 NA 10 48 0 0 0 0 GPR107 57720 broad.mit.edu 37 9 132887236 132887236 + Missense_Mutation SNP A A G TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr9:132887236A>G uc004bze.2 + 17 1720 c.1493A>G c.(1492-1494)TAC>TGC p.Y498C GPR107_uc004bzb.2_Missense_Mutation_p.Y261C|GPR107_uc004bzc.3_RNA|GPR107_uc011mbx.1_Missense_Mutation_p.Y469C|GPR107_uc004bzd.2_Missense_Mutation_p.Y450C NM_001136557 NP_001130029 Q5VW38 GP107_HUMAN G protein-coupled receptor 107 isoform 1 498 integral to membrane upper_aerodigestive_tract(1) 1 Ovarian(14;0.000531) AGACATTATTACGTCTTGGTA 0.308 NA 2 3 0 0 0 0 RPS6KA6 27330 broad.mit.edu 37 X 83357104 83357104 + Nonsense_Mutation SNP G G A TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chrX:83357104G>A uc004eej.1 - 18 1794 c.1717C>T c.(1717-1719)CGA>TGA p.R573* RPS6KA6_uc011mqt.1_Nonsense_Mutation_p.R573*|RPS6KA6_uc011mqu.1_Nonsense_Mutation_p.R470* NM_014496 NP_055311 Q9UK32 KS6A6_HUMAN ribosomal protein S6 kinase polypeptide 6 573 Protein kinase 2. axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity lung(5)|stomach(1)|central_nervous_system(1)|skin(1) 8 TTTTCTCCTCGAAGTTGTTTT 0.368 NA 15 7 0 0 0 0 KLHL4 56062 broad.mit.edu 37 X 86890582 86890582 + Missense_Mutation SNP C C T TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chrX:86890582C>T uc004efb.2 + 9 1914 c.1732C>T c.(1732-1734)CGT>TGT p.R578C KLHL4_uc004efa.2_Missense_Mutation_p.R578C NM_019117 NP_061990 Q9C0H6 KLHL4_HUMAN kelch-like 4 isoform 1 578 Kelch 4. cytoplasm|microtubule cytoskeleton|nucleolus actin binding ovary(2)|lung(1)|breast(1)|central_nervous_system(1) 5 TATTGGTGGACGTGATGGAAG 0.398 NA 11 12 0 0 0 0 C12orf12 196477 broad.mit.edu 37 12 91347586 91347587 + In_Frame_Ins INS - - TTG rs3832847 TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr12:91347586_91347587insTTG uc001tbj.2 - 1 1367_1368 c.933_934insCAA c.(931-936)insCAA p.311_312insQ NM_152638 NP_689851 Q8TC90 CL012_HUMAN hypothetical protein LOC196477 311_312 Potential.|Glu-rich. central_nervous_system(1)|pancreas(1) 2 tcgacctcttcctcctcatctt 0.064 NA 10 67 --- --- --- --- NA NA NA NA MYOM1 8736 broad.mit.edu 37 18 3086058 3086059 + Frame_Shift_Ins INS - - T TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr18:3086058_3086059insT uc002klp.2 - 30 4562_4563 c.4228_4229insA c.(4228-4230)ATAfs p.I1410fs MYOM1_uc002klq.2_Frame_Shift_Ins_p.I1314fs NM_003803 NP_003794 P52179 MYOM1_HUMAN myomesin 1 isoform a 1410 Ig-like C2-type 4. striated muscle myosin thick filament structural constituent of muscle ovary(3)|central_nervous_system(1)|pancreas(1) 5 CAGGGTACATATACCATCCTTA 0.366 NA 13 86 --- --- --- --- NA NA NA NA PLCL1 5334 broad.mit.edu 37 2 198953700 198953701 + Frame_Shift_Del DEL TT TT - TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr2:198953700_198953701delTT uc010fsp.2 + 3 3125_3126 c.2834_2835delTT c.(2833-2835)CTTfs p.L945fs PLCL1_uc002uuv.3_Frame_Shift_Del_p.L866fs NM_001114661 NP_001108133 Q15111 PLCL1_HUMAN RecName: Full=Inactive phospholipase C-like protein 1; Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein; Short=PRIP; 945 intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(1)|skin(1) 2 Quinacrine(DB01103) TCAGTCTCACTTGTGATGAAAG 0.47 NA 42 261 --- --- --- --- NA NA NA NA PRKCD 5580 broad.mit.edu 37 3 53222779 53222780 + Frame_Shift_Ins INS - - T TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6b4369e1-cf03-4a40-9a66-fc67bfb946b3 11f422c3-46e6-47c6-9f85-5708ec25b154 g.chr3:53222779_53222780insT uc003dgl.2 + 16 1812_1813 c.1459_1460insT c.(1459-1461)ATCfs p.I487fs PRKCD_uc003dgm.2_Frame_Shift_Ins_p.I487fs NM_006254 NP_006245 Q05655 KPCD_HUMAN protein kinase C, delta 487 Protein kinase. activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction cytosol|endoplasmic reticulum|nucleoplasm ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding central_nervous_system(4)|lung(3)|stomach(1)|skin(1) 9 Ovarian(412;0.0728) OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173) GGATGGCCACATCAAGATTGCC 0.564 NA 25 97 --- --- --- --- NA NA NA NA