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 CYP4B1 1580 broad.mit.edu 37 1 47278284 47278284 + Missense_Mutation SNP C T T TCGA-06-5414-01A-01D-1486-08 TCGA-06-5414-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 7aa16ff4-169a-4206-83d1-a2495fb56f62 0489fea8-8d1b-4258-b083-e6f646246abc g.chr1:47278284C>T uc001cqm.3 + 4 568 c.484C>T c.(484-486)CGT>TGT p.R162C CYP4B1_uc009vyl.1_Translation_Start_Site|CYP4B1_uc001cqn.3_Missense_Mutation_p.R162C|CYP4B1_uc009vym.2_Missense_Mutation_p.R147C|CYP4B1_uc010omk.1_Translation_Start_Site|CYP4B1_uc010oml.1_Translation_Start_Site NM_000779 NP_000770 P13584 CP4B1_HUMAN cytochrome P450, family 4, subfamily B, 162 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(166;0.155) TGAGTCTACACGTATCATGCT 0.567 HRNR 388697 broad.mit.edu 37 1 152187706 152187706 + Silent SNP G A A TCGA-06-5414-01A-01D-1486-08 TCGA-06-5414-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 7aa16ff4-169a-4206-83d1-a2495fb56f62 0489fea8-8d1b-4258-b083-e6f646246abc g.chr1:152187706G>A uc001ezt.1 - 3 6475 c.6399C>T c.(6397-6399)TAC>TAT p.Y2133Y NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 2133 keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CGTGTTGTCCGTAGCCAGAGG 0.567 S100A8 6279 broad.mit.edu 37 1 153362715 153362715 + Missense_Mutation SNP T C C TCGA-06-5414-01A-01D-1486-08 TCGA-06-5414-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 7aa16ff4-169a-4206-83d1-a2495fb56f62 0489fea8-8d1b-4258-b083-e6f646246abc g.chr1:153362715T>C uc001fbs.2 - 3 201 c.146A>G c.(145-147)AAG>AGG p.K49R NM_002964 NP_002955 P05109 S10A8_HUMAN S100 calcium-binding protein A8 49 EF-hand 2. chemotaxis cytoplasm|cytoskeleton|plasma membrane calcium ion binding|protein binding 0 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) GTCTGCACCCTTTTTCTGTCA 0.507 KCNK18 338567 broad.mit.edu 37 10 118969028 118969028 + Missense_Mutation SNP G A A rs141958329 TCGA-06-5414-01A-01D-1486-08 TCGA-06-5414-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 7aa16ff4-169a-4206-83d1-a2495fb56f62 0489fea8-8d1b-4258-b083-e6f646246abc g.chr10:118969028G>A uc010qsr.1 + 3 373 c.373G>A c.(373-375)GTC>ATC p.V125I NM_181840 NP_862823 Q7Z418 KCNKI_HUMAN potassium channel, subfamily K, member 18 125 integral to membrane|plasma membrane upper_aerodigestive_tract(1) 1 Colorectal(252;0.19) all cancers(201;0.0211) CATCTACCCCGTCACCAGGCT 0.507 ZNF215 7762 broad.mit.edu 37 11 6964441 6964441 + Missense_Mutation SNP G A A TCGA-06-5414-01A-01D-1486-08 TCGA-06-5414-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 7aa16ff4-169a-4206-83d1-a2495fb56f62 0489fea8-8d1b-4258-b083-e6f646246abc g.chr11:6964441G>A uc001mey.2 + 5 1199 c.611G>A c.(610-612)CGT>CAT p.R204H ZNF215_uc010raw.1_Intron|ZNF215_uc010rax.1_Intron|ZNF215_uc001mez.1_Missense_Mutation_p.R204H NM_013250 NP_037382 Q9UL58 ZN215_HUMAN zinc finger protein 215 204 KRAB. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134) AATTCATTGCGTAAAGGTGGT 0.418 OLFML1 283298 broad.mit.edu 37 11 7509544 7509544 + Nonsense_Mutation SNP C T T TCGA-06-5414-01A-01D-1486-08 TCGA-06-5414-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 7aa16ff4-169a-4206-83d1-a2495fb56f62 0489fea8-8d1b-4258-b083-e6f646246abc g.chr11:7509544C>T uc001mfi.2 + 2 668 c.316C>T c.(316-318)CGA>TGA p.R106* uc001mff.1_Intron|OLFML1_uc001mfh.1_Nonsense_Mutation_p.R106*|OLFML1_uc010raz.1_Intron|OLFML1_uc010rba.1_Nonsense_Mutation_p.R106* NM_198474 NP_940876 Q6UWY5 OLFL1_HUMAN olfactomedin-like 1 precursor 106 Potential. extracellular region ovary(2) 2 Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194) ACAATACCTTCGAGAGGCTGA 0.478 OR4P4 81300 broad.mit.edu 37 11 55406751 55406751 + Silent SNP G T T TCGA-06-5414-01A-01D-1486-08 TCGA-06-5414-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 7aa16ff4-169a-4206-83d1-a2495fb56f62 0489fea8-8d1b-4258-b083-e6f646246abc g.chr11:55406751G>T uc010rij.1 + 1 918 c.918G>T c.(916-918)CTG>CTT p.L306L NM_001004124 NP_001004124 Q8NGL7 OR4P4_HUMAN olfactory receptor, family 4, subfamily P, 306 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 AAATACTCCTGAAAAGAAATC 0.398 LRRC55 219527 broad.mit.edu 37 11 56950136 56950136 + Missense_Mutation SNP C T T TCGA-06-5414-01A-01D-1486-08 TCGA-06-5414-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 7aa16ff4-169a-4206-83d1-a2495fb56f62 0489fea8-8d1b-4258-b083-e6f646246abc g.chr11:56950136C>T uc001njl.1 + 1 916 c.769C>T c.(769-771)CGG>TGG p.R257W NM_001005210 NP_001005210 Q6ZSA7 LRC55_HUMAN leucine rich repeat containing 55 227 LRRCT. integral to membrane 0 GCTGCGAAACCGGATCCAGCG 0.617 LRP5 4041 broad.mit.edu 37 11 68206026 68206026 + Silent SNP G A A TCGA-06-5414-01A-01D-1486-08 TCGA-06-5414-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 7aa16ff4-169a-4206-83d1-a2495fb56f62 0489fea8-8d1b-4258-b083-e6f646246abc g.chr11:68206026G>A uc001ont.2 + 20 4299 c.4224G>A c.(4222-4224)CAG>CAA p.Q1408Q LRP5_uc009ysg.2_Silent_p.Q818Q NM_002335 NP_002326 O75197 LRP5_HUMAN low density lipoprotein receptor-related protein 1408 Cytoplasmic (Potential). adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex protein binding|receptor activity lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1) 7 TTGTGTGCCAGCGCGTGGTGT 0.652 KDELC2 143888 broad.mit.edu 37 11 108350192 108350192 + Missense_Mutation SNP C T T TCGA-06-5414-01A-01D-1486-08 TCGA-06-5414-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 7aa16ff4-169a-4206-83d1-a2495fb56f62 0489fea8-8d1b-4258-b083-e6f646246abc g.chr11:108350192C>T uc001pkj.2 - 6 1195 c.1129G>A c.(1129-1131)GTG>ATG p.V377M KDELC2_uc001pki.2_Missense_Mutation_p.V321M NM_153705 NP_714916 Q7Z4H8 KDEL2_HUMAN KDEL (Lys-Asp-Glu-Leu) containing 2 precursor 377 endoplasmic reticulum lumen ovary(1) 1 all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14) TAAGCAGCCACGGTCCCATCC 0.408 USP2 9099 broad.mit.edu 37 11 119229846 119229846 + Splice_Site DEL T - - TCGA-06-5414-01A-01D-1486-08 TCGA-06-5414-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 7aa16ff4-169a-4206-83d1-a2495fb56f62 0489fea8-8d1b-4258-b083-e6f646246abc g.chr11:119229846delT uc001pwm.3 - 6 1357 c.1062_splice c.e6-1 p.N354_splice USP2_uc001pwl.3_Splice_Site_p.N145_splice|USP2_uc001pwn.3_Splice_Site_p.N111_splice NM_004205 NP_004196 O75604 UBP2_HUMAN ubiquitin specific peptidase 2 isoform a cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process nucleus|perinuclear region of cytoplasm cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity ovary(2)|urinary_tract(1)|skin(1) 4 all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889) TCCTGCTGACTGAACCCAAAG 0.527 RPL13AP20 387841 broad.mit.edu 37 12 13028751 13028751 + Missense_Mutation SNP G C C TCGA-06-5414-01A-01D-1486-08 TCGA-06-5414-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 7aa16ff4-169a-4206-83d1-a2495fb56f62 0489fea8-8d1b-4258-b083-e6f646246abc g.chr12:13028751G>C uc010sho.1 + 1 341 c.319G>C c.(319-321)GGC>CGC p.G107R NR_003932 SubName: Full=Ribosomal protein L13a variant; Flags: Fragment; 0 GGTGTTTGACGGCATCCCACC 0.612 DIAPH3 81624 broad.mit.edu 37 13 60545255 60545256 + Missense_Mutation DNP GA AT AT TCGA-06-5414-01A-01D-1486-08 TCGA-06-5414-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 7aa16ff4-169a-4206-83d1-a2495fb56f62 0489fea8-8d1b-4258-b083-e6f646246abc g.chr13:60545255_60545256GA>AT uc001vht.2 - 16 1908_1909 c.1689_1690TC>AT c.(1687-1692)CCTCCC>CCATCC p.P564S DIAPH3_uc001vhu.2_Missense_Mutation_p.P301S|DIAPH3_uc001vhv.2_Missense_Mutation_p.P142S NM_001042517 NP_001035982 Q9NSV4 DIAP3_HUMAN diaphanous homolog 3 isoform a 564 FH1.|Pro-rich. actin cytoskeleton organization actin binding|Rho GTPase binding ovary(2) 2 Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;2.77e-05) TCTTTAGAGGGAGGCAAAGGAA 0.495 SLITRK1 114798 broad.mit.edu 37 13 84455310 84455310 + Silent SNP C A A TCGA-06-5414-01A-01D-1486-08 TCGA-06-5414-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 7aa16ff4-169a-4206-83d1-a2495fb56f62 0489fea8-8d1b-4258-b083-e6f646246abc g.chr13:84455310C>A uc001vlk.2 - 1 1219 c.333G>T c.(331-333)CTG>CTT p.L111L NM_052910 NP_443142 Q96PX8 SLIK1_HUMAN slit and trk like 1 protein precursor 111 Extracellular (Potential).|LRR 3. integral to membrane ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) TGTTGATGTGCAGCCTTTTCA 0.433 SLC39A9 55334 broad.mit.edu 37 14 69920026 69920026 + Missense_Mutation SNP G A A TCGA-06-5414-01A-01D-1486-08 TCGA-06-5414-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 7aa16ff4-169a-4206-83d1-a2495fb56f62 0489fea8-8d1b-4258-b083-e6f646246abc g.chr14:69920026G>A uc001xle.2 + 4 1152 c.472G>A c.(472-474)GCT>ACT p.A158T SLC39A9_uc010aqx.2_Intron|SLC39A9_uc001xlf.3_Missense_Mutation_p.A158T|SLC39A9_uc001xlg.3_RNA NM_018375 NP_060845 Q9NUM3 S39A9_HUMAN solute carrier family 39 (zinc transporter), 158 Helical; (Potential). zinc ion transport integral to membrane metal ion transmembrane transporter activity 0 all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373) CCATGCTGCAGGTAGGGTTGG 0.463 TCF12 6938 broad.mit.edu 37 15 57524624 57524624 + Frame_Shift_Del DEL G - - TCGA-06-5414-01A-01D-1486-08 TCGA-06-5414-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 7aa16ff4-169a-4206-83d1-a2495fb56f62 0489fea8-8d1b-4258-b083-e6f646246abc g.chr15:57524624delG uc002aec.2 + 10 1105 c.821delG c.(820-822)CGCfs p.R274fs TCF12_uc010ugm.1_Frame_Shift_Del_p.R326fs|TCF12_uc010ugn.1_Frame_Shift_Del_p.R270fs|TCF12_uc002aea.2_Frame_Shift_Del_p.R274fs|TCF12_uc010bfs.2_Intron|TCF12_uc002aeb.2_Frame_Shift_Del_p.R274fs|TCF12_uc002aed.2_Frame_Shift_Del_p.R274fs|TCF12_uc002aee.2_Frame_Shift_Del_p.R104fs|TCF12_uc010bft.2_Frame_Shift_Del_p.R104fs|TCF12_uc010ugo.1_Intron NM_207038 NP_996921 Q99081 HTF4_HUMAN transcription factor 12 isoform b 274 immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(5)|ovary(2)|lung(1) 8 Colorectal(260;0.0907) all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239) TCACATGACCGCTTGGTAGGC 0.443 T TEC extraskeletal myxoid chondrosarcoma WASH3P 374666 broad.mit.edu 37 15 102515299 102515299 + Missense_Mutation SNP G A A TCGA-06-5414-01A-01D-1486-08 TCGA-06-5414-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 7aa16ff4-169a-4206-83d1-a2495fb56f62 0489fea8-8d1b-4258-b083-e6f646246abc g.chr15:102515299G>A uc002cdi.2 + 9 1943 c.523G>A c.(523-525)GGC>AGC p.G175S WASH3P_uc002cdl.2_Missense_Mutation_p.G175S|WASH3P_uc002cdk.2_RNA|WASH3P_uc002cdp.2_Missense_Mutation_p.G175S|WASH3P_uc010bpo.2_RNA|WASH3P_uc002cdq.2_RNA|WASH3P_uc002cdr.2_RNA NR_003659 RecName: Full=WAS protein family homolog 2; AltName: Full=Protein FAM39B; AltName: Full=CXYorf1-like protein on chromosome 2; 0 TGGGGGCATCGGCAAGGCCAA 0.652 KRT13 3860 broad.mit.edu 37 17 39659673 39659673 + Missense_Mutation SNP G A A TCGA-06-5414-01A-01D-1486-08 TCGA-06-5414-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 7aa16ff4-169a-4206-83d1-a2495fb56f62 0489fea8-8d1b-4258-b083-e6f646246abc g.chr17:39659673G>A uc002hwu.1 - 3 664 c.601C>T c.(601-603)CGC>TGC p.R201C KRT13_uc002hwv.1_Missense_Mutation_p.R201C|KRT13_uc002hww.2_Missense_Mutation_p.R94C|KRT13_uc010wfr.1_Missense_Mutation_p.R94C|KRT13_uc010cxo.2_Missense_Mutation_p.R201C|KRT13_uc002hwx.1_Missense_Mutation_p.R189C NM_153490 NP_705694 P13646 K1C13_HUMAN keratin 13 isoform a 201 Coil 1B.|Rod. epidermis development intermediate filament structural molecule activity ovary(2)|skin(2)|pancreas(1) 5 Breast(137;0.000286) ACGCTCTGGCGCAGGGCCAGC 0.483 POTEC 388468 broad.mit.edu 37 18 14513675 14513675 + Missense_Mutation SNP T C C TCGA-06-5414-01A-01D-1486-08 TCGA-06-5414-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 7aa16ff4-169a-4206-83d1-a2495fb56f62 0489fea8-8d1b-4258-b083-e6f646246abc g.chr18:14513675T>C uc010dln.2 - 10 1973 c.1519A>G c.(1519-1521)AAA>GAA p.K507E POTEC_uc010xaj.1_RNA NM_001137671 NP_001131143 B2RU33 POTEC_HUMAN ANKRD26-like family B, member 2 507 Potential. skin(3) 3 GAATTCATTTTCTTTTCAGCC 0.284 CNDP2 55748 broad.mit.edu 37 18 72178127 72178127 + Missense_Mutation SNP C T T TCGA-06-5414-01A-01D-1486-08 TCGA-06-5414-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 7aa16ff4-169a-4206-83d1-a2495fb56f62 0489fea8-8d1b-4258-b083-e6f646246abc g.chr18:72178127C>T uc002llm.1 + 6 698 c.536C>T c.(535-537)GCC>GTC p.A179V CNDP2_uc002lln.1_Missense_Mutation_p.A95V|CNDP2_uc010dqs.2_Missense_Mutation_p.A15V NM_018235 NP_060705 Q96KP4 CNDP2_HUMAN CNDP dipeptidase 2 179 cytoplasm carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity ovary(2)|skin(1) 3 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.22) CTGATTTTTGCCCGGAAAGAC 0.527 ATG4D 84971 broad.mit.edu 37 19 10657548 10657548 + Missense_Mutation SNP C T T TCGA-06-5414-01A-01D-1486-08 TCGA-06-5414-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 7aa16ff4-169a-4206-83d1-a2495fb56f62 0489fea8-8d1b-4258-b083-e6f646246abc g.chr19:10657548C>T uc002mov.2 + 4 647 c.527C>T c.(526-528)CCC>CTC p.P176L ATG4D_uc010xlg.1_Missense_Mutation_p.P199L|ATG4D_uc010xlh.1_Missense_Mutation_p.P113L|ATG4D_uc010dxh.2_RNA|ATG4D_uc010dxi.2_Intron|ATG4D_uc010dxj.2_Intron NM_032885 NP_116274 Q86TL0 ATG4D_HUMAN APG4 autophagy 4 homolog D 176 autophagy|protein transport cytoplasm cysteine-type endopeptidase activity 0 Epithelial(33;9.2e-06)|all cancers(31;3.9e-05) GGCCTGGGCCCCCCTGAGCTG 0.657 NWD1 284434 broad.mit.edu 37 19 16883984 16883984 + Missense_Mutation SNP G A A rs139109286 by1000genomes TCGA-06-5414-01A-01D-1486-08 TCGA-06-5414-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 7aa16ff4-169a-4206-83d1-a2495fb56f62 0489fea8-8d1b-4258-b083-e6f646246abc g.chr19:16883984G>A uc002neu.3 + 11 2880 c.2458G>A c.(2458-2460)GCC>ACC p.A820T NWD1_uc002net.3_Missense_Mutation_p.A685T|NWD1_uc002nev.3_Missense_Mutation_p.A614T Q149M9 NWD1_HUMAN RecName: Full=NACHT and WD repeat domain-containing protein 1; 820 ATP binding skin(3)|ovary(2)|pancreas(2) 7 CCATTTCTTCGCCACCTCACA 0.577 MEGF8 1954 broad.mit.edu 37 19 42879827 42879827 + Missense_Mutation SNP G A A TCGA-06-5414-01A-01D-1486-08 TCGA-06-5414-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 7aa16ff4-169a-4206-83d1-a2495fb56f62 0489fea8-8d1b-4258-b083-e6f646246abc g.chr19:42879827G>A uc002otl.3 + 41 7872 c.7237G>A c.(7237-7239)GTG>ATG p.V2413M MEGF8_uc002otm.3_Missense_Mutation_p.V2021M|MEGF8_uc002otn.3_Missense_Mutation_p.V74M NM_001410 NP_001401 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 2480 Extracellular (Potential). integral to membrane calcium ion binding|structural molecule activity ovary(1) 1 Prostate(69;0.00682) CCTCTTTGGCGTGCAGCCCAA 0.637 ZNF665 79788 broad.mit.edu 37 19 53668521 53668521 + Missense_Mutation SNP C T T TCGA-06-5414-01A-01D-1486-08 TCGA-06-5414-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 7aa16ff4-169a-4206-83d1-a2495fb56f62 0489fea8-8d1b-4258-b083-e6f646246abc g.chr19:53668521C>T uc010eqm.1 - 4 1322 c.1222G>A c.(1222-1224)GTC>ATC p.V408I NM_024733 NP_079009 Q9H7R5 ZN665_HUMAN zinc finger protein 665 343 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 GBM - Glioblastoma multiforme(134;0.0196) AAAACCTTGACGCATTCATTA 0.398 CYTIP 9595 broad.mit.edu 37 2 158300464 158300464 + Silent SNP C T T TCGA-06-5414-01A-01D-1486-08 TCGA-06-5414-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 7aa16ff4-169a-4206-83d1-a2495fb56f62 0489fea8-8d1b-4258-b083-e6f646246abc g.chr2:158300464C>T uc002tzj.1 - 1 141 c.69G>A c.(67-69)GCG>GCA p.A23A CYTIP_uc010zcl.1_Intron NM_004288 NP_004279 O60759 CYTIP_HUMAN cytohesin 1 interacting protein 23 regulation of cell adhesion cell cortex|early endosome protein binding ovary(1)|kidney(1)|skin(1) 3 AAGAGCTATACGCTGGCCCAG 0.512 SGOL2 151246 broad.mit.edu 37 2 201434569 201434569 + Silent SNP A G G TCGA-06-5414-01A-01D-1486-08 TCGA-06-5414-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 7aa16ff4-169a-4206-83d1-a2495fb56f62 0489fea8-8d1b-4258-b083-e6f646246abc g.chr2:201434569A>G uc002uvw.2 + 6 770 c.657A>G c.(655-657)TTA>TTG p.L219L SGOL2_uc002uvv.3_Silent_p.L219L|SGOL2_uc010zhd.1_Silent_p.L219L|SGOL2_uc010zhe.1_Silent_p.L219L NM_152524 NP_689737 Q562F6 SGOL2_HUMAN shugoshin-like 2 isoform 1 219 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol|mitotic cohesin complex protein binding ovary(2)|skin(2) 4 TATATGGTTTAGATGATTCAG 0.303 COL4A3 1285 broad.mit.edu 37 2 228118844 228118844 + Missense_Mutation SNP A G G TCGA-06-5414-01A-01D-1486-08 TCGA-06-5414-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 7aa16ff4-169a-4206-83d1-a2495fb56f62 0489fea8-8d1b-4258-b083-e6f646246abc g.chr2:228118844A>G uc002vom.1 + 14 944 c.782A>G c.(781-783)AAG>AGG p.K261R COL4A3_uc002von.1_Missense_Mutation_p.K261R|COL4A3_uc002voo.1_Missense_Mutation_p.K261R|COL4A3_uc002vop.1_Missense_Mutation_p.K261R|uc002voq.1_Intron|uc002vor.1_Intron NM_000091 NP_000082 Q01955 CO4A3_HUMAN alpha 3 type IV collagen isoform 1 precursor 261 Triple-helical region. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity skin(2)|ovary(1) 3 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) AAGGGGGAAAAGGGAGACAAG 0.433 SPHKAP 80309 broad.mit.edu 37 2 228884217 228884217 + Silent SNP G A A TCGA-06-5414-01A-01D-1486-08 TCGA-06-5414-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 7aa16ff4-169a-4206-83d1-a2495fb56f62 0489fea8-8d1b-4258-b083-e6f646246abc g.chr2:228884217G>A uc002vpq.2 - 7 1400 c.1353C>T c.(1351-1353)GTC>GTT p.V451V SPHKAP_uc002vpp.2_Silent_p.V451V|SPHKAP_uc010zlx.1_Silent_p.V451V NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN sphingosine kinase type 1-interacting protein 451 cytoplasm protein binding skin(5)|ovary(4)|lung(1) 10 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) TCTGAACAACGACGATTTTGG 0.507 HCK 3055 broad.mit.edu 37 20 30674471 30674471 + Missense_Mutation SNP G A A TCGA-06-5414-01A-01D-1486-08 TCGA-06-5414-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 7aa16ff4-169a-4206-83d1-a2495fb56f62 0489fea8-8d1b-4258-b083-e6f646246abc g.chr20:30674471G>A uc002wxh.2 + 9 1047 c.876G>A c.(874-876)ATG>ATA p.M292I HCK_uc010gdy.2_Missense_Mutation_p.M271I|HCK_uc002wxi.2_Missense_Mutation_p.M270I NM_002110 NP_002101 P08631 HCK_HUMAN hemopoietic cell kinase isoform p61HCK 292 Protein kinase. interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction caveola|cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(4)|ovary(2)|central_nervous_system(2)|pancreas(1) 9 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) TGAAGACGATGAAGCCAGGGA 0.577 SYCP2 10388 broad.mit.edu 37 20 58467047 58467047 + Frame_Shift_Del DEL T - - TCGA-06-5414-01A-01D-1486-08 TCGA-06-5414-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 7aa16ff4-169a-4206-83d1-a2495fb56f62 0489fea8-8d1b-4258-b083-e6f646246abc g.chr20:58467047delT uc002yaz.2 - 23 2501 c.2362delA c.(2362-2364)ATGfs p.M788fs NM_014258 NP_055073 Q9BX26 SYCP2_HUMAN synaptonemal complex protein 2 788 cell division|meiotic prophase I|synaptonemal complex assembly DNA binding ovary(3)|lung(2) 5 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;1.19e-09) AAGCTCACCATTTTTTTTTGT 0.323 PPARA 5465 broad.mit.edu 37 22 46594404 46594404 + Missense_Mutation SNP G A A TCGA-06-5414-01A-01D-1486-08 TCGA-06-5414-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 7aa16ff4-169a-4206-83d1-a2495fb56f62 0489fea8-8d1b-4258-b083-e6f646246abc g.chr22:46594404G>A uc003bgw.1 + 4 390 c.124G>A c.(124-126)GGC>AGC p.G42S PPARA_uc003bgx.1_Missense_Mutation_p.G42S|PPARA_uc010hab.1_Missense_Mutation_p.G42S|PPARA_uc003bgy.1_RNA|PPARA_uc003bgz.1_RNA|PPARA_uc003bha.2_Missense_Mutation_p.G42S|PPARA_uc003bhb.1_Missense_Mutation_p.G42S|PPARA_uc010hac.1_5'UTR NM_005036 NP_005027 Q07869 PPARA_HUMAN peroxisome proliferative activated receptor, 42 fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding ovary(1)|central_nervous_system(1) 2 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00522) Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641) GCAATCCATCGGCGAGGATAG 0.527 DPPA4 55211 broad.mit.edu 37 3 109050752 109050752 + Nonsense_Mutation SNP C T T TCGA-06-5414-01A-01D-1486-08 TCGA-06-5414-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 7aa16ff4-169a-4206-83d1-a2495fb56f62 0489fea8-8d1b-4258-b083-e6f646246abc g.chr3:109050752C>T uc003dxq.3 - 3 360 c.305G>A c.(304-306)TGG>TAG p.W102* DPPA4_uc011bho.1_Nonsense_Mutation_p.W102*|DPPA4_uc011bhp.1_Nonsense_Mutation_p.W102* NM_018189 NP_060659 Q7L190 DPPA4_HUMAN developmental pluripotency associated 4 102 nucleus protein binding upper_aerodigestive_tract(1) 1 TTGTTGGCACCAGGCCCGCAG 0.532 FNDC3B 64778 broad.mit.edu 37 3 172096080 172096080 + Missense_Mutation SNP G A A TCGA-06-5414-01A-01D-1486-08 TCGA-06-5414-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 7aa16ff4-169a-4206-83d1-a2495fb56f62 0489fea8-8d1b-4258-b083-e6f646246abc g.chr3:172096080G>A uc003fhy.2 + 24 3201 c.3029G>A c.(3028-3030)GGA>GAA p.G1010E FNDC3B_uc003fhz.3_Missense_Mutation_p.G1010E NM_022763 NP_073600 Q53EP0 FND3B_HUMAN fibronectin type III domain containing 3B 1010 Fibronectin type-III 8. endoplasmic reticulum|integral to membrane ovary(2)|breast(1) 3 all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GBM - Glioblastoma multiforme(1;0.0494) ATCTACAGAGGACCCAGCCAC 0.448 CPZ 8532 broad.mit.edu 37 4 8621243 8621243 + Missense_Mutation SNP C T T rs143690050 TCGA-06-5414-01A-01D-1486-08 TCGA-06-5414-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 7aa16ff4-169a-4206-83d1-a2495fb56f62 0489fea8-8d1b-4258-b083-e6f646246abc g.chr4:8621243C>T uc003glm.2 + 11 1984 c.1858C>T c.(1858-1860)CGG>TGG p.R620W CPZ_uc003gll.2_RNA|CPZ_uc003gln.2_Missense_Mutation_p.R483W|CPZ_uc003glo.2_Missense_Mutation_p.R609W|CPZ_uc003glp.2_RNA NM_001014447 NP_001014447 Q66K79 CBPZ_HUMAN carboxypeptidase Z isoform 1 620 proteolysis|Wnt receptor signaling pathway proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding ovary(2)|pancreas(1) 3 CGACCCGCTCCGGGCGCGCAG 0.667 ADH1C 126 broad.mit.edu 37 4 100268910 100268910 + Missense_Mutation SNP G A A TCGA-06-5414-01A-01D-1486-08 TCGA-06-5414-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 7aa16ff4-169a-4206-83d1-a2495fb56f62 0489fea8-8d1b-4258-b083-e6f646246abc g.chr4:100268910G>A uc003huu.2 - 2 197 c.112C>T c.(112-114)CGC>TGC p.R38C NM_000669 NP_000660 P00326 ADH1G_HUMAN class I alcohol dehydrogenase, gamma subunit 38 ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase (NAD) activity|zinc ion binding 0 OV - Ovarian serous cystadenocarcinoma(123;1.08e-07) Fomepizole(DB01213)|NADH(DB00157) ACCTTAATGCGAACTTCATGA 0.338 Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of LRBA 987 broad.mit.edu 37 4 151791721 151791725 + Frame_Shift_Del DEL TTATG - - TCGA-06-5414-01A-01D-1486-08 TCGA-06-5414-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 7aa16ff4-169a-4206-83d1-a2495fb56f62 0489fea8-8d1b-4258-b083-e6f646246abc g.chr4:151791721_151791725delTTATG uc010ipj.2 - 20 2875_2879 c.2401_2405delCATAA c.(2401-2406)CATAAAfs p.H801fs LRBA_uc003ilu.3_Frame_Shift_Del_p.H801fs NM_006726 NP_006717 P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and 801_802 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding ovary(3)|breast(3)|skin(1) 7 all_hematologic(180;0.151) TGGATGCTGTTTATGTATCACCTGA 0.312 DCHS2 54798 broad.mit.edu 37 4 155249289 155249289 + Missense_Mutation SNP G A A rs111557030 byFrequency TCGA-06-5414-01A-01D-1486-08 TCGA-06-5414-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 7aa16ff4-169a-4206-83d1-a2495fb56f62 0489fea8-8d1b-4258-b083-e6f646246abc g.chr4:155249289G>A uc003inw.2 - 12 2609 c.2609C>T c.(2608-2610)CCT>CTT p.P870L DCHS2_uc003inx.2_Missense_Mutation_p.P1325L NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN dachsous 2 isoform 1 870 Cadherin 7. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|pancreas(1) 4 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) TCCTTCATCAGGATCCTTTGC 0.348 ADAMTS16 170690 broad.mit.edu 37 5 5146447 5146447 + Missense_Mutation SNP C T T TCGA-06-5414-01A-01D-1486-08 TCGA-06-5414-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 7aa16ff4-169a-4206-83d1-a2495fb56f62 0489fea8-8d1b-4258-b083-e6f646246abc g.chr5:5146447C>T uc003jdl.2 + 3 518 c.380C>T c.(379-381)ACG>ATG p.T127M ADAMTS16_uc003jdk.1_Missense_Mutation_p.T127M|ADAMTS16_uc003jdj.1_Missense_Mutation_p.T127M NM_139056 NP_620687 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 127 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1) 8 ATTGTGCAGACGTTGGGAAAG 0.522 ADAMTS16 170690 broad.mit.edu 37 5 5190212 5190212 + Silent SNP T C C TCGA-06-5414-01A-01D-1486-08 TCGA-06-5414-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 7aa16ff4-169a-4206-83d1-a2495fb56f62 0489fea8-8d1b-4258-b083-e6f646246abc g.chr5:5190212T>C uc003jdl.2 + 7 1314 c.1176T>C c.(1174-1176)TGT>TGC p.C392C ADAMTS16_uc003jdk.1_Silent_p.C392C|ADAMTS16_uc003jdj.1_Silent_p.C392C NM_139056 NP_620687 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 392 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1) 8 TGGATATATGTTCCTGGAAGA 0.527 RASGRF2 5924 broad.mit.edu 37 5 80408515 80408515 + Missense_Mutation SNP C T T TCGA-06-5414-01A-01D-1486-08 TCGA-06-5414-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 7aa16ff4-169a-4206-83d1-a2495fb56f62 0489fea8-8d1b-4258-b083-e6f646246abc g.chr5:80408515C>T uc003kha.1 + 14 1925 c.1925C>T c.(1924-1926)GCC>GTC p.A642V RASGRF2_uc011ctn.1_RNA NM_006909 NP_008840 O14827 RGRF2_HUMAN Ras protein-specific guanine 642 N-terminal Ras-GEF. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|endoplasmic reticulum membrane|plasma membrane protein binding|Rho guanyl-nucleotide exchange factor activity breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1) 12 Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357) OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29) ATCCGTTATGCCAGCGTGGAG 0.483 PCDHGB2 56103 broad.mit.edu 37 5 140741338 140741338 + Missense_Mutation SNP G A A TCGA-06-5414-01A-01D-1486-08 TCGA-06-5414-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 7aa16ff4-169a-4206-83d1-a2495fb56f62 0489fea8-8d1b-4258-b083-e6f646246abc g.chr5:140741338G>A uc003ljs.1 + 1 1636 c.1636G>A c.(1636-1638)GTG>ATG p.V546M PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGA5_uc003lju.1_5'Flank|PCDHGB2_uc011dar.1_Missense_Mutation_p.V546M|PCDHGA5_uc011das.1_5'Flank NM_018923 NP_061746 Q9Y5G2 PCDGE_HUMAN protocadherin gamma subfamily B, 2 isoform 1 546 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGCGCCAACGTGAGCCTGCG 0.682 TIMD4 91937 broad.mit.edu 37 5 156346519 156346519 + Silent SNP G T T TCGA-06-5414-01A-01D-1486-08 TCGA-06-5414-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 7aa16ff4-169a-4206-83d1-a2495fb56f62 0489fea8-8d1b-4258-b083-e6f646246abc g.chr5:156346519G>T uc003lwh.2 - 9 1143 c.1086C>A c.(1084-1086)CTC>CTA p.L362L TIMD4_uc010jii.2_Silent_p.L334L|TIMD4_uc003lwg.2_Silent_p.L64L NM_138379 NP_612388 Q96H15 TIMD4_HUMAN T-cell immunoglobulin and mucin domain 362 Cytoplasmic (Potential). integral to membrane ovary(2) 2 Renal(175;0.00488) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GCACGTCATTGAGGACATTTT 0.438 GABRA6 2559 broad.mit.edu 37 5 161116076 161116076 + Missense_Mutation SNP C A A TCGA-06-5414-01A-01D-1486-08 TCGA-06-5414-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 7aa16ff4-169a-4206-83d1-a2495fb56f62 0489fea8-8d1b-4258-b083-e6f646246abc g.chr5:161116076C>A uc003lyu.2 + 4 685 c.347C>A c.(346-348)ACC>AAC p.T116N GABRA6_uc003lyv.2_5'Flank NM_000811 NP_000802 Q16445 GBRA6_HUMAN gamma-aminobutyric acid A receptor, alpha 6 116 Extracellular (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) ACGCCTGACACCTTTTTCAGA 0.418 TCGA Ovarian(5;0.080) TMEM63B 55362 broad.mit.edu 37 6 44107303 44107303 + Silent SNP C T T rs145356402 TCGA-06-5414-01A-01D-1486-08 TCGA-06-5414-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 7aa16ff4-169a-4206-83d1-a2495fb56f62 0489fea8-8d1b-4258-b083-e6f646246abc g.chr6:44107303C>T uc003owr.2 + 7 571 c.507C>T c.(505-507)TCC>TCT p.S169S TMEM63B_uc003owq.1_Silent_p.S169S|TMEM63B_uc010jyy.1_Silent_p.S72S|TMEM63B_uc003ows.2_Silent_p.S72S|TMEM63B_uc010jyz.2_5'Flank NM_018426 NP_060896 Q5T3F8 TM63B_HUMAN transmembrane protein 63B 169 Helical; (Potential). integral to membrane nucleotide binding|protein binding p.S169S(1) pancreas(2)|central_nervous_system(1) 3 all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215) GCGTCCTCTCCGTAGGCATCG 0.627 VNN2 8875 broad.mit.edu 37 6 133078573 133078573 + Missense_Mutation SNP G A A rs149351884 TCGA-06-5414-01A-01D-1486-08 TCGA-06-5414-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 7aa16ff4-169a-4206-83d1-a2495fb56f62 0489fea8-8d1b-4258-b083-e6f646246abc g.chr6:133078573G>A uc003qdt.2 - 2 337 c.326C>T c.(325-327)CCG>CTG p.P109L VNN2_uc003qds.2_5'UTR|VNN2_uc010kgb.2_Missense_Mutation_p.P109L|VNN2_uc003qdv.2_Missense_Mutation_p.P56L NM_004665 NP_004656 O95498 VNN2_HUMAN vanin 2 isoform 1 precursor 109 CN hydrolase. cellular component movement|pantothenate metabolic process anchored to membrane|plasma membrane pantetheine hydrolase activity 0 OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267) GTCTTGACACGGAATCCAGTT 0.418 GRM3 2913 broad.mit.edu 37 7 86468833 86468833 + Missense_Mutation SNP G A A TCGA-06-5414-01A-01D-1486-08 TCGA-06-5414-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 7aa16ff4-169a-4206-83d1-a2495fb56f62 0489fea8-8d1b-4258-b083-e6f646246abc g.chr7:86468833G>A uc003uid.2 + 4 3102 c.2003G>A c.(2002-2004)CGC>CAC p.R668H GRM3_uc010lef.2_Intron|GRM3_uc010leg.2_Missense_Mutation_p.R540H|GRM3_uc010leh.2_Missense_Mutation_p.R260H NM_000840 NP_000831 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 precursor 668 Cytoplasmic (Potential). synaptic transmission integral to plasma membrane lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1) 13 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) TGCATTGCCCGCATCTTCGAT 0.537 ZKSCAN5 23660 broad.mit.edu 37 7 99123821 99123821 + Silent SNP G T T TCGA-06-5414-01A-01D-1486-08 TCGA-06-5414-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 7aa16ff4-169a-4206-83d1-a2495fb56f62 0489fea8-8d1b-4258-b083-e6f646246abc g.chr7:99123821G>T uc003uqv.2 + 6 1282 c.1158G>T c.(1156-1158)CGG>CGT p.R386R ZKSCAN5_uc010lfx.2_Silent_p.R386R|ZKSCAN5_uc003uqw.2_Silent_p.R386R|ZKSCAN5_uc003uqx.2_Silent_p.R313R|ZKSCAN5_uc003uqy.2_Silent_p.R122R NM_145102 NP_659570 Q9Y2L8 ZKSC5_HUMAN zinc finger with KRAB and SCAN domains 5 386 C2H2-type 2. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) ACAATCAGCGGGTGCACCTCA 0.537 KEL 3792 broad.mit.edu 37 7 142658590 142658590 + Splice_Site SNP T C C TCGA-06-5414-01A-01D-1486-08 TCGA-06-5414-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 7aa16ff4-169a-4206-83d1-a2495fb56f62 0489fea8-8d1b-4258-b083-e6f646246abc g.chr7:142658590T>C uc003wcb.2 - 3 292 c.82_splice c.e3-1 p.S28_splice NM_000420 NP_000411 P23276 KELL_HUMAN Kell blood group, metallo-endopeptidase proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding ovary(3)|central_nervous_system(1) 4 Melanoma(164;0.059) TGGAGTGCTCTGTGGGAGGAA 0.552 DLC1 10395 broad.mit.edu 37 8 12956045 12956045 + Silent SNP C T T TCGA-06-5414-01A-01D-1486-08 TCGA-06-5414-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 7aa16ff4-169a-4206-83d1-a2495fb56f62 0489fea8-8d1b-4258-b083-e6f646246abc g.chr8:12956045C>T uc003wwm.2 - 10 3474 c.3030G>A c.(3028-3030)CGG>CGA p.R1010R DLC1_uc003wwk.1_Silent_p.R573R|DLC1_uc003wwl.1_Silent_p.R607R|DLC1_uc011kxx.1_Silent_p.R499R NM_182643 NP_872584 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 isoform 1 1010 actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding ovary(3)|pancreas(2)|lung(1)|kidney(1) 7 TGAGGCTTGGCCGATGTGAGC 0.463 TUSC3 7991 broad.mit.edu 37 8 15519787 15519787 + Silent SNP T G G TCGA-06-5414-01A-01D-1486-08 TCGA-06-5414-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 7aa16ff4-169a-4206-83d1-a2495fb56f62 0489fea8-8d1b-4258-b083-e6f646246abc g.chr8:15519787T>G uc003wwt.2 + 5 900 c.690T>G c.(688-690)GGT>GGG p.G230G TUSC3_uc003wwr.2_Silent_p.G230G|TUSC3_uc003wws.2_Silent_p.G230G|TUSC3_uc003wwu.2_Silent_p.G230G|TUSC3_uc003wwv.2_Silent_p.G230G|TUSC3_uc003www.2_Silent_p.G230G|TUSC3_uc003wwx.2_RNA|TUSC3_uc003wwy.2_Silent_p.G230G NM_006765 NP_006756 Q13454 TUSC3_HUMAN tumor suppressor candidate 3 isoform a 230 Helical; (Potential). cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex ovary(2)|central_nervous_system(1) 3 Colorectal(111;0.113) ACAAGACTGGTTGGGCCATGG 0.368 SFTPC 6440 broad.mit.edu 37 8 22020183 22020183 + Missense_Mutation SNP G A A TCGA-06-5414-01A-01D-1486-08 TCGA-06-5414-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 7aa16ff4-169a-4206-83d1-a2495fb56f62 0489fea8-8d1b-4258-b083-e6f646246abc g.chr8:22020183G>A uc003xax.3 + 2 297 c.139G>A c.(139-141)GTC>ATC p.V47I SFTPC_uc003xaw.3_Missense_Mutation_p.V96I|SFTPC_uc011kza.1_Missense_Mutation_p.V47I|SFTPC_uc003xaz.2_Missense_Mutation_p.V47I|SFTPC_uc003xay.3_Missense_Mutation_p.V47I|BMP1_uc011kzb.1_5'Flank|BMP1_uc003xba.2_5'Flank|BMP1_uc003xbb.2_5'Flank|BMP1_uc003xbe.2_5'Flank|BMP1_uc003xbc.2_5'Flank|BMP1_uc003xbd.2_5'Flank|BMP1_uc003xbf.2_5'Flank|BMP1_uc003xbg.2_5'Flank|BMP1_uc011kzc.1_5'Flank|BMP1_uc003xbh.2_5'Flank|BMP1_uc003xbi.2_5'Flank NM_003018 NP_003009 P11686 PSPC_HUMAN surfactant protein C precursor 47 respiratory gaseous exchange extracellular space 0 Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1) GGTCCTCATCGTCGTGGTGAT 0.597 PHYHIP 9796 broad.mit.edu 37 8 22079267 22079267 + Missense_Mutation SNP C G G TCGA-06-5414-01A-01D-1486-08 TCGA-06-5414-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 7aa16ff4-169a-4206-83d1-a2495fb56f62 0489fea8-8d1b-4258-b083-e6f646246abc g.chr8:22079267C>G uc003xbk.3 - 6 1286 c.592G>C c.(592-594)GAC>CAC p.D198H PHYHIP_uc003xbj.3_Missense_Mutation_p.D198H NM_001099335 NP_001092805 Q92561 PHYIP_HUMAN phytanoyl-CoA 2-hydroxylase interacting protein 198 0 Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629) TAGGGGGAGTCCTGCGGGGGC 0.627 PCMTD1 115294 broad.mit.edu 37 8 52733107 52733107 + Missense_Mutation SNP T C C TCGA-06-5414-01A-01D-1486-08 TCGA-06-5414-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 7aa16ff4-169a-4206-83d1-a2495fb56f62 0489fea8-8d1b-4258-b083-e6f646246abc g.chr8:52733107T>C uc003xqx.3 - 6 1219 c.878A>G c.(877-879)AAT>AGT p.N293S PCMTD1_uc011ldm.1_Missense_Mutation_p.N163S|PCMTD1_uc003xqw.3_Missense_Mutation_p.N293S|PCMTD1_uc011ldn.1_Missense_Mutation_p.N105S|PCMTD1_uc010lya.2_Missense_Mutation_p.N217S NM_052937 NP_443169 Q96MG8 PCMD1_HUMAN protein-L-isoaspartate (D-aspartate) 293 cytoplasm protein-L-isoaspartate (D-aspartate) O-methyltransferase activity 0 Lung NSC(129;0.0795)|all_lung(136;0.144) AATAAGCTGATTACCCACAAA 0.318 KCNB2 9312 broad.mit.edu 37 8 73848231 73848231 + Missense_Mutation SNP C T T TCGA-06-5414-01A-01D-1486-08 TCGA-06-5414-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 7aa16ff4-169a-4206-83d1-a2495fb56f62 0489fea8-8d1b-4258-b083-e6f646246abc g.chr8:73848231C>T uc003xzb.2 + 3 1229 c.641C>T c.(640-642)ACG>ATG p.T214M NM_004770 NP_004761 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related 214 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1) 7 Breast(64;0.137) Epithelial(68;0.105) TCTCTCAATACGCTGCCGGAG 0.478 CNKSR2 22866 broad.mit.edu 37 X 21508621 21508621 + Silent SNP G T T TCGA-06-5414-01A-01D-1486-08 TCGA-06-5414-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 7aa16ff4-169a-4206-83d1-a2495fb56f62 0489fea8-8d1b-4258-b083-e6f646246abc g.chrX:21508621G>T uc004czx.1 + 6 642 c.606G>T c.(604-606)TCG>TCT p.S202S CNKSR2_uc004czw.2_Silent_p.S202S|CNKSR2_uc011mjn.1_Silent_p.S202S|CNKSR2_uc011mjo.1_Silent_p.S202S NM_014927 NP_055742 Q8WXI2 CNKR2_HUMAN connector enhancer of kinase suppressor of Ras 202 regulation of signal transduction cytoplasm|membrane protein binding large_intestine(1)|lung(1) 2 TATCCCTGTCGTCAGATCCTC 0.398