Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content ACHILLES_Top_Genes CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut DMBX1 127343 broad.mit.edu 37 1 46976626 46976626 + Missense_Mutation SNP G G A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr1:46976626G>A uc001cpx.2 + 3 383 c.368G>A c.(367-369)CGG>CAG p.R123Q DMBX1_uc001cpw.2_Missense_Mutation_p.R118Q NM_147192 NP_671725 Q8NFW5 DMBX1_HUMAN diencephalon/mesencephalon homeobox 1 isoform b 123 Homeobox.|Interacts with OXT2 and is required for repressor activity (By similarity). brain development|developmental growth|negative regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Acute lymphoblastic leukemia(166;0.155) AAGAACCGCCGGGCCAAGTTC 0.627 NA 7 12 0 0 0.001984 0 0 ACADM 34 broad.mit.edu 37 1 76198356 76198356 + Missense_Mutation SNP A A C TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr1:76198356A>C uc001dgw.3 + 3 576 c.146A>C c.(145-147)CAA>CCA p.Q49P ACADM_uc010orc.1_Missense_Mutation_p.Q49P|ACADM_uc010ord.1_5'UTR|ACADM_uc009wbp.2_Missense_Mutation_p.Q53P|ACADM_uc009wbr.2_Missense_Mutation_p.Q49P|ACADM_uc010ore.1_Missense_Mutation_p.Q13P|ACADM_uc010orf.1_5'UTR|ACADM_uc001dgx.3_5'UTR|ACADM_uc010org.1_5'UTR NM_000016 NP_000007 P11310 ACADM_HUMAN medium-chain acyl-CoA dehydrogenase isoform a 49 carnitine biosynthetic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|medium-chain fatty acid catabolic process mitochondrial matrix flavin adenine dinucleotide binding|identical protein binding|medium-chain-acyl-CoA dehydrogenase activity breast(2)|ovary(1)|skin(1) 4 AAAGAATTTCAAGCTACTGCT 0.348 NA 40 49 0 0 0.010771 0 0 LPPR4 9890 broad.mit.edu 37 1 99764596 99764596 + Missense_Mutation SNP C C T TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr1:99764596C>T uc001dse.2 + 4 650 c.544C>T c.(544-546)CAT>TAT p.H182Y LPPR4_uc010oue.1_Missense_Mutation_p.H182Y NM_014839 NP_055654 Q7Z2D5 LPPR4_HUMAN plasticity related gene 1 182 Helical; (Potential). phosphatidate phosphatase activity ovary(3) 3 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) TATAGGTGTTCATGTATTTGG 0.348 NA 11 32 0 0 0.008291 0 0 HSD3B1 3283 broad.mit.edu 37 1 120057020 120057020 + Missense_Mutation SNP T T C TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr1:120057020T>C uc001ehv.1 + 4 1019 c.874T>C c.(874-876)TAT>CAT p.Y292H HSD3B1_uc001ehw.2_Missense_Mutation_p.Y294H NM_000862 NP_000853 P14060 3BHS1_HUMAN 3 beta-hydroxysteroid dehydrogenase 1 292 Helical; (Potential). androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity ovary(2) 2 all_neural(166;0.219) all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624) Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554) NADH(DB00157)|Trilostane(DB01108) ATCCCTGATGTATTGGATTGG 0.473 NA 18 57 0 0 0.006122 0 0 ITGA10 8515 broad.mit.edu 37 1 145535838 145535838 + Silent SNP C C T TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr1:145535838C>T uc001eoa.2 + 16 2102 c.2026C>T c.(2026-2028)CTG>TTG p.L676L NBPF10_uc001emp.3_Intron|ITGA10_uc010oyv.1_Silent_p.L545L|ITGA10_uc009wiw.2_Silent_p.L533L|ITGA10_uc010oyw.1_Silent_p.L621L NM_003637 NP_003628 O75578 ITA10_HUMAN integrin, alpha 10 precursor 676 Extracellular (Potential). cell-matrix adhesion|integrin-mediated signaling pathway integrin complex collagen binding|receptor activity lung(2)|ovary(2)|kidney(2)|large_intestine(1)|skin(1) 8 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GGCAGTCTGTCTGACTGCAGC 0.557 NA 44 66 0 0 0.009718 0 0 HIST2H2AC 8338 broad.mit.edu 37 1 149858560 149858560 + Silent SNP C C T TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr1:149858560C>T uc001etd.2 + 1 36 c.36C>T c.(34-36)CGC>CGT p.R12R HIST2H2BE_uc001etc.2_5'Flank NM_003517 NP_003508 Q16777 H2A2C_HUMAN histone cluster 2, H2ac 12 nucleosome assembly nucleosome|nucleus DNA binding ovary(1)|skin(1) 2 Breast(34;0.0124)|all_hematologic(923;0.127) STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221) GCAAGGCCCGCGCCAAGGCCA 0.587 NA 36 90 0 0 0.005524 0 0 DENND4B 9909 broad.mit.edu 37 1 153907270 153907270 + Silent SNP C C T TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr1:153907270C>T uc001fdd.1 - 18 3140 c.2739G>A c.(2737-2739)GTG>GTA p.V913V uc001fdc.1_RNA NM_014856 NP_055671 O75064 DEN4B_HUMAN DENN/MADD domain containing 4B 913 Gln-rich. ovary(1) 1 all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) GATGTGCTGACACctgctcct 0.453 NA 13 24 0 0 0.013537 0 0 F13B 2165 broad.mit.edu 37 1 197019966 197019966 + Silent SNP T T A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr1:197019966T>A uc001gtt.1 - 10 1643 c.1599A>T c.(1597-1599)GGA>GGT p.G533G NM_001994 NP_001985 P05160 F13B_HUMAN coagulation factor XIII B subunit precursor 533 Sushi 9. blood coagulation extracellular region upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 TAATAATGACTCCATGTTTAA 0.343 NA 12 45 0 0 0.016723 0 0 NR5A2 2494 broad.mit.edu 37 1 200014594 200014594 + Missense_Mutation SNP A A T TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr1:200014594A>T uc001gvb.2 + 4 551 c.345A>T c.(343-345)CAA>CAT p.Q115H NR5A2_uc001gvc.2_Missense_Mutation_p.Q69H|NR5A2_uc009wzh.2_Missense_Mutation_p.Q75H|NR5A2_uc010pph.1_Missense_Mutation_p.Q43H NM_205860 NP_995582 O00482 NR5A2_HUMAN nuclear receptor subfamily 5, group A, member 2 115 Nuclear receptor. embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 Prostate(682;0.19) GAACAGTCCAAAATAATAAAA 0.328 Melanoma(179;1138 2773 15678 26136) NA 9 36 0 0 0.004482 0 0 NAV1 89796 broad.mit.edu 37 1 201749556 201749556 + Missense_Mutation SNP G G A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr1:201749556G>A uc001gwu.2 + 4 1581 c.1234G>A c.(1234-1236)GAA>AAA p.E412K NAV1_uc001gwv.1_5'UTR|NAV1_uc001gww.1_Missense_Mutation_p.E21K|NAV1_uc001gwx.2_Missense_Mutation_p.E21K|NAV1_uc001gwy.1_5'Flank NM_020443 NP_065176 Q8NEY1 NAV1_HUMAN neuron navigator 1 412 cell differentiation|nervous system development cytoplasm|microtubule nucleoside-triphosphatase activity|nucleotide binding central_nervous_system(3)|ovary(1) 4 TAGCTGGGATGAAAGCAGCTC 0.468 NA 16 49 0 0 0.003163 0 0 NAV1 89796 broad.mit.edu 37 1 201777216 201777216 + Missense_Mutation SNP G G A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr1:201777216G>A uc001gwu.2 + 17 4122 c.3775G>A c.(3775-3777)GAG>AAG p.E1259K NAV1_uc001gwx.2_Missense_Mutation_p.E868K|MIR1231_hsa-mir-1231|MI0006321_5'Flank NM_020443 NP_065176 Q8NEY1 NAV1_HUMAN neuron navigator 1 1262 cell differentiation|nervous system development cytoplasm|microtubule nucleoside-triphosphatase activity|nucleotide binding central_nervous_system(3)|ovary(1) 4 TGGTTCTACAGAGACTGCTTC 0.557 NA 27 48 0 0 0.004656 0 0 USH2A 7399 broad.mit.edu 37 1 216405452 216405452 + Missense_Mutation SNP T T C TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr1:216405452T>C uc001hku.1 - 14 3223 c.2836A>G c.(2836-2838)ACT>GCT p.T946A USH2A_uc001hkv.2_Missense_Mutation_p.T946A NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 946 Laminin EGF-like 8.|Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) AGGCAGCCAGTGGCATTGCCT 0.358 NA HNSCC(13;0.011) 29 50 0 0 0.007291 0 0 EPRS 2058 broad.mit.edu 37 1 220160560 220160560 + Missense_Mutation SNP C C A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr1:220160560C>A uc001hly.1 - 20 3232 c.2962G>T c.(2962-2964)GAC>TAC p.D988Y EPRS_uc010puf.1_Missense_Mutation_p.D739Y|EPRS_uc001hlz.1_Missense_Mutation_p.D995Y NM_004446 NP_004437 P07814 SYEP_HUMAN glutamyl-prolyl tRNA synthetase 988 Charged. glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly cytosol|soluble fraction ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(131;0.0735) L-Glutamic Acid(DB00142)|L-Proline(DB00172) TTAGAAGGGTCTTTCCTTTGG 0.433 NA 24 65 4.59853e-10 5.42309e-10 0.005443 1 0 URB2 9816 broad.mit.edu 37 1 229771675 229771675 + Missense_Mutation SNP G G A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr1:229771675G>A uc001hts.1 + 4 1451 c.1315G>A c.(1315-1317)GAG>AAG p.E439K URB2_uc009xfd.1_Missense_Mutation_p.E439K NM_014777 NP_055592 Q14146 URB2_HUMAN URB2 ribosome biogenesis 2 homolog 439 nucleolus central_nervous_system(2)|ovary(1) 3 GATCGATGCCGAGGTAACAGA 0.498 NA 30 71 0 0 0.009535 0 0 GALNT2 2590 broad.mit.edu 37 1 230415081 230415081 + Silent SNP G G C TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr1:230415081G>C uc010pwa.1 + 16 1665 c.1593G>C c.(1591-1593)CTG>CTC p.L531L GALNT2_uc010pvy.1_Silent_p.L493L|GALNT2_uc001htu.2_Silent_p.L143L NM_004481 NP_004472 Q10471 GALT2_HUMAN polypeptide N-acetylgalactosaminyltransferase 2 531 Lumenal (Potential).|Ricin B-type lectin. immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(2) 2 Breast(184;0.193)|Ovarian(103;0.249) all_cancers(173;0.156)|Prostate(94;0.179) ACTCCAAGCTGAGGCACGTGG 0.582 NA 12 20 0 0 0.010729 0 0 ZP4 57829 broad.mit.edu 37 1 238048576 238048576 + Silent SNP G G T TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr1:238048576G>T uc001hym.2 - 9 1200 c.1200C>A c.(1198-1200)ATC>ATA p.I400I LOC100130331_uc010pyc.1_Intron NM_021186 NP_067009 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 preproprotein 400 ZP.|Extracellular (Potential). acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity ovary(2)|skin(1) 3 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) TCTGGACAGGGATCAGCTGGG 0.517 NSCLC(166;160 2029 11600 18754 19936) NA 8 21 5.18039e-06 5.71514e-06 0.00308 1 0 NLRP3 114548 broad.mit.edu 37 1 247587274 247587274 + Missense_Mutation SNP C C A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr1:247587274C>A uc001icr.2 + 5 667 c.529C>A c.(529-531)CAC>AAC p.H177N NLRP3_uc001ics.2_Missense_Mutation_p.H177N|NLRP3_uc001icu.2_Missense_Mutation_p.H177N|NLRP3_uc001icw.2_Missense_Mutation_p.H177N|NLRP3_uc001icv.2_Missense_Mutation_p.H177N|NLRP3_uc010pyw.1_Missense_Mutation_p.H175N|NLRP3_uc001ict.1_Missense_Mutation_p.H175N NM_001079821 NP_001073289 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 isoform a 177 detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1) 26 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) CATCAAGGAGCACCGGAGCCA 0.557 NA 14 11 4.3838e-07 4.89954e-07 0.016723 1 0 OR2L13 284521 broad.mit.edu 37 1 248263401 248263401 + Missense_Mutation SNP A A G TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr1:248263401A>G uc001ids.2 + 3 1061 c.724A>G c.(724-726)ACA>GCA p.T242A NM_175911 NP_787107 Q8N349 OR2LD_HUMAN olfactory receptor, family 2, subfamily L, 242 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity|protein binding central_nervous_system(2)|ovary(1)|skin(1) 4 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0132) CACCATTTCAACACATTTAAC 0.463 NA 5 101 0 0 0.014758 0 0 PITRM1 10531 broad.mit.edu 37 10 3202411 3202411 + Silent SNP T T G TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr10:3202411T>G uc010qah.1 - 7 839 c.807A>C c.(805-807)ACA>ACC p.T269T PITRM1_uc001igr.1_Silent_p.T301T|PITRM1_uc001igt.1_Silent_p.T301T|PITRM1_uc009xhv.1_5'Flank|PITRM1_uc001igu.1_Silent_p.T293T|PITRM1_uc010qai.1_Silent_p.T272T|PITRM1_uc001igw.1_Silent_p.T301T E7ES23 E7ES23_HUMAN SubName: Full=cDNA FLJ54065, moderately similar to Mus musculus pitrilysin metallepetidase 1 (Pitrm1), mRNA; 269 proteolysis metalloendopeptidase activity|zinc ion binding pancreas(1) 1 TGTCCCAGGGTGTCTGAGCTG 0.468 NA 3 16 0 0 0.001984 0 0 KIAA1462 57608 broad.mit.edu 37 10 30316110 30316110 + Silent SNP G G C TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr10:30316110G>C uc001iux.2 - 2 3026 c.2967C>G c.(2965-2967)CCC>CCG p.P989P KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Silent_p.P851P|KIAA1462_uc009xle.1_Silent_p.P989P NM_020848 NP_065899 Q9P266 K1462_HUMAN hypothetical protein LOC57608 989 ovary(4) 4 GATAGGACGCGGGCAGTGGTT 0.532 NA 37 94 0 0 0.019004 0 0 SLC18A3 6572 broad.mit.edu 37 10 50818879 50818879 + Silent SNP G G A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr10:50818879G>A uc001jhw.2 + 1 533 c.93G>A c.(91-93)CAG>CAA p.Q31Q CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank NM_003055 NP_003046 Q16572 VACHT_HUMAN vesicular acetylcholine transporter 31 Cytoplasmic (Potential). neurotransmitter secretion clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction acetylcholine transmembrane transporter activity ovary(2) 2 CCCGGCGGCAGAGGCGCCTGG 0.677 NA 3 13 0 0 0.004672 0 0 PRKG1 5592 broad.mit.edu 37 10 54048708 54048708 + Missense_Mutation SNP G G A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr10:54048708G>A uc001jjm.2 + 16 1999 c.1805G>A c.(1804-1806)AGA>AAA p.R602K PRKG1_uc001jjo.2_Missense_Mutation_p.R617K|PRKG1_uc009xow.1_Missense_Mutation_p.R320K|uc001jjq.1_Intron NM_001098512 NP_001091982 Q13976 KGP1_HUMAN protein kinase, cGMP-dependent, type I isoform 602 Protein kinase. actin cytoskeleton organization|platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity lung(2)|stomach(1)|ovary(1)|central_nervous_system(1)|skin(1) 6 all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173) all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606) CCATCAGAAAGATTAGGGAAT 0.308 NA 22 82 0 0 0.01892 0 0 ANK3 288 broad.mit.edu 37 10 62038898 62038898 + Missense_Mutation SNP C C G TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr10:62038898C>G uc001jky.2 - 3 417 c.225G>C c.(223-225)TTG>TTC p.L75F ANK3_uc010qih.1_Missense_Mutation_p.L58F|ANK3_uc001jkz.3_Missense_Mutation_p.L69F|ANK3_uc001jlb.1_5'UTR NM_020987 NP_066267 Q12955 ANK3_HUMAN ankyrin 3 isoform 1 75 ANK 1. establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2) 19 GGAGAGCGTTCAACCCATTCT 0.438 NA 19 50 0 0 0.010504 0 0 PPA1 5464 broad.mit.edu 37 10 71973273 71973273 + Missense_Mutation SNP C C T rs11538284 TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr10:71973273C>T uc001jqv.1 - 6 564 c.457G>A c.(457-459)GAC>AAC p.D153N NM_021129 NP_066952 Q15181 IPYR_HUMAN pyrophosphatase 1 153 Magnesium 1 (By similarity). diphosphate metabolic process|tRNA aminoacylation for protein translation cytosol inorganic diphosphatase activity|magnesium ion binding breast(1) 1 ACTTTCCAGTCGGTTTCCCCT 0.383 NA 3 71 0 0 0.004672 0 0 GOT1 2805 broad.mit.edu 37 10 101163595 101163595 + Missense_Mutation SNP G G C TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr10:101163595G>C uc001kpr.2 - 6 887 c.679C>G c.(679-681)CAG>GAG p.Q227E GOT1_uc009xwh.2_RNA|GOT1_uc001kpq.1_Intron NM_002079 NP_002070 P17174 AATC_HUMAN aspartate aminotransferase 1 227 aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus cytosol L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding 0 Ovarian(717;0.028)|Colorectal(252;0.234) Epithelial(162;4.76e-10)|all cancers(201;3.84e-08) L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) GCGAAGCCCTGATAGGCTGAG 0.542 Melanoma(173;770 3544 21601) NA 12 31 0 0 0.016723 0 0 PCGF6 84108 broad.mit.edu 37 10 105108755 105108755 + Missense_Mutation SNP C C A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr10:105108755C>A uc001kwt.2 - 2 430 c.362G>T c.(361-363)CGC>CTC p.R121L PCGF6_uc001kwu.2_Missense_Mutation_p.R121L|PCGF6_uc009xxk.2_RNA|PCGF6_uc009xxl.2_RNA|PCGF6_uc009xxm.2_RNA NM_001011663 NP_001011663 Q9BYE7 PCGF6_HUMAN polycomb group ring finger 6 isoform a 121 negative regulation of transcription, DNA-dependent PcG protein complex DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding kidney(1) 1 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;2.57e-09)|all cancers(201;7.21e-08)|BRCA - Breast invasive adenocarcinoma(275;0.205) ATTAATCAGGCGCTGCAAATA 0.289 NA 12 37 1.08611e-07 1.24647e-07 0.010729 1 0 MAP3K11 4296 broad.mit.edu 37 11 65375408 65375408 + Missense_Mutation SNP C C A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr11:65375408C>A uc001oew.2 - 3 1547 c.1054G>T c.(1054-1056)GCA>TCA p.A352S MAP3K11_uc001oev.2_5'Flank|MAP3K11_uc010rol.1_Missense_Mutation_p.A95S|MAP3K11_uc001oex.1_5'UTR NM_002419 NP_002410 Q16584 M3K11_HUMAN mitogen-activated protein kinase kinase kinase 352 Protein kinase. activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation centrosome|microtubule ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity breast(3)|lung(1)|central_nervous_system(1)|skin(1) 6 ATAAGCTGTGCGAAGGGCTCG 0.612 NA 13 8 1.49906e-05 1.6432e-05 0.020292 1 0 BBS1 582 broad.mit.edu 37 11 66282099 66282099 + Nonsense_Mutation SNP C C T TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr11:66282099C>T uc001oij.1 + 4 394 c.382C>T c.(382-384)CAA>TAA p.Q128* BBS1_uc001oii.1_Nonsense_Mutation_p.Q165*|BBS1_uc010rpf.1_RNA|BBS1_uc010rpg.1_Nonsense_Mutation_p.Q128*|BBS1_uc001oik.1_Nonsense_Mutation_p.Q52*|BBS1_uc001oil.1_Nonsense_Mutation_p.Q128* NM_024649 NP_078925 Q8NFJ9 BBS1_HUMAN Bardet-Biedl syndrome 1 128 nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis BBSome|cilium membrane|cytoplasm protein binding ovary(1) 1 CAGCCTGCCCCAATTGCCTCC 0.507 GBM(152;173 2612 9770 10137) NA Bardet-Biedl_syndrome 6 79 0 0 0.001984 0 0 ME3 10873 broad.mit.edu 37 11 86267677 86267677 + Missense_Mutation SNP C C A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr11:86267677C>A uc001pbz.2 - 3 639 c.385G>T c.(385-387)GTG>TTG p.V129L ME3_uc001pca.2_Missense_Mutation_p.V129L|ME3_uc009yvk.2_Missense_Mutation_p.V129L|ME3_uc010rtr.1_RNA NM_001014811 NP_001014811 Q16798 MAON_HUMAN mitochondrial malic enzyme 3 precursor 129 aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process mitochondrial matrix malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding ovary(1) 1 Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252) NADH(DB00157) AACTTCTCCACGTCCGAAGTC 0.552 NA 14 25 0.000151284 0.000162702 0.016723 1 0 OR4D5 219875 broad.mit.edu 37 11 123810836 123810836 + Silent SNP T T C TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr11:123810836T>C uc001pzk.1 + 1 513 c.513T>C c.(511-513)CCT>CCC p.P171P NM_001001965 NP_001001965 Q8NGN0 OR4D5_HUMAN olfactory receptor, family 4, subfamily D, 171 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) TCTGTGGGCCTGACAAGCTGG 0.488 NA 4 86 0 0 0.009096 0 0 OR8B8 26493 broad.mit.edu 37 11 124310358 124310358 + Silent SNP A A C TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr11:124310358A>C uc010sal.1 - 1 624 c.624T>G c.(622-624)GGT>GGG p.G208G NM_012378 NP_036510 Q15620 OR8B8_HUMAN olfactory receptor, family 8, subfamily B, 208 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) CTGTGGGCACACCAATATCAA 0.488 NA 16 25 0 0 0.006122 0 0 C11orf61 79684 broad.mit.edu 37 11 124637469 124637469 + Missense_Mutation SNP T T C TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr11:124637469T>C uc001qba.1 - 4 1306 c.1283A>G c.(1282-1284)GAA>GGA p.E428G C11orf61_uc001qaz.1_Missense_Mutation_p.E376G|C11orf61_uc010sap.1_Missense_Mutation_p.E148G|C11orf61_uc001qay.1_Missense_Mutation_p.E198G NM_024631 NP_078907 Q6P1R3 CK061_HUMAN hypothetical protein LOC79684 428 0 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0079) AATACATTCTTCATAGCCAAT 0.502 NA 16 97 0 0 0.003163 0 0 ETS1 2113 broad.mit.edu 37 11 128354828 128354828 + Missense_Mutation SNP G G A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr11:128354828G>A uc010sbs.1 - 5 936 c.620C>T c.(619-621)TCG>TTG p.S207L ETS1_uc001qej.2_Missense_Mutation_p.S251L|ETS1_uc009zch.2_Intron|ETS1_uc009zcg.2_Missense_Mutation_p.S207L NM_005238 NP_005229 P14921 ETS1_HUMAN v-ets erythroblastosis virus E26 oncogene 207 cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter nucleus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding lung(4)|central_nervous_system(1)|pleura(1) 6 all_hematologic(175;0.0537) Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833) GAGAATGACCGAGGGGTAGTC 0.522 NA 29 24 0 0 0.007291 0 0 PRMT8 56341 broad.mit.edu 37 12 3677968 3677968 + Missense_Mutation SNP A A G TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr12:3677968A>G uc001qmf.2 + 5 945 c.578A>G c.(577-579)TAT>TGT p.Y193C PRMT8_uc009zed.2_Missense_Mutation_p.Y184C|PRMT8_uc009zee.1_RNA|PRMT8_uc001qmg.2_Missense_Mutation_p.Y7C NM_019854 NP_062828 Q9NR22 ANM8_HUMAN HMT1 hnRNP methyltransferase-like 4 193 regulation of protein binding cytoplasm|plasma membrane histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity ovary(3)|central_nervous_system(1)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264) TGTCTGTTCTATGAGTCCATG 0.547 NA 24 65 0 0 0.01892 0 0 GALNT8 26290 broad.mit.edu 37 12 4872541 4872541 + Silent SNP C C T TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr12:4872541C>T uc001qne.1 + 8 1574 c.1482C>T c.(1480-1482)ATC>ATT p.I494I NM_017417 NP_059113 Q9NY28 GALT8_HUMAN polypeptide N-acetylgalactosaminyltransferase 8 494 Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(2)|pancreas(1)|skin(1) 4 TCCACACCATCGTGGGCTATG 0.413 Colon(108;631 1558 7270 20097 39846) NA 29 64 0 0 0.012213 0 0 GAPDH 2597 broad.mit.edu 37 12 6647123 6647123 + Missense_Mutation SNP G G A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr12:6647123G>A uc001qop.1 + 8 1001 c.899G>A c.(898-900)GGC>GAC p.G300D GAPDH_uc009zep.1_Missense_Mutation_p.G258D|GAPDH_uc001qoq.1_Missense_Mutation_p.G225D|GAPDH_uc001qor.1_Missense_Mutation_p.G259D|GAPDH_uc001qos.1_Missense_Mutation_p.G300D|GAPDH_uc001qot.1_Missense_Mutation_p.G300D|GAPDH_uc001qou.1_Missense_Mutation_p.G259D|GAPDH_uc001qov.1_Missense_Mutation_p.G258D|GAPDH_uc001qow.1_Missense_Mutation_p.G253D|GAPDH_uc001qox.1_Missense_Mutation_p.G126D NM_002046 NP_002037 P04406 G3P_HUMAN glyceraldehyde-3-phosphate dehydrogenase 300 gluconeogenesis|glycolysis|neuron apoptosis|peptidyl-cysteine S-trans-nitrosylation|protein stabilization cytosol|membrane|nucleus|perinuclear region of cytoplasm glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|peptidyl-cysteine S-nitrosylase activity|protein binding 0 NADH(DB00157) GCTGGGGCTGGCATTGCCCTC 0.597 NA OREG0021628 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 49 0 0 0.004672 0 0 GUCY2C 2984 broad.mit.edu 37 12 14778702 14778702 + Missense_Mutation SNP C C T TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr12:14778702C>T uc001rcd.2 - 21 2534 c.2397G>A c.(2395-2397)ATG>ATA p.M799I NM_004963 NP_004954 P25092 GUC2C_HUMAN guanylate cyclase 2C precursor 799 Cytoplasmic (Potential). intracellular signal transduction|receptor guanylyl cyclase signaling pathway integral to membrane ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity ovary(4)|skin(2) 6 TTGGAAGCAACATAAAGTTAA 0.428 NA 26 82 0 0 0.005443 0 0 C12orf11 55726 broad.mit.edu 37 12 27066581 27066581 + Silent SNP G G A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr12:27066581G>A uc001rhk.3 - 14 2151 c.1614C>T c.(1612-1614)ACC>ACT p.T538T C12orf11_uc001rhj.3_Silent_p.T106T|C12orf11_uc010sjk.1_Silent_p.T437T NM_018164 NP_060634 Q9NVM9 M89BB_HUMAN hypothetical protein LOC55726 538 cell division|mitosis|regulation of mitotic cell cycle protein binding large_intestine(1)|ovary(1)|central_nervous_system(1) 3 Colorectal(261;0.0847) CTCTGACAAGGGTTTCTAATT 0.393 NA 66 206 0 0 0.01441 0 0 ZFC3H1 196441 broad.mit.edu 37 12 72022764 72022764 + Silent SNP T T G TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr12:72022764T>G uc001swo.2 - 20 4239 c.3880A>C c.(3880-3882)AGA>CGA p.R1294R NM_144982 NP_659419 O60293 ZC3H1_HUMAN proline/serine-rich coiled-coil 2 1294 RNA processing intracellular metal ion binding ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 5 ATAGGTTTTCTCCAAAACTTT 0.313 NA 4 27 0 0 0.009096 0 0 MYO1H 283446 broad.mit.edu 37 12 109872885 109872885 + Missense_Mutation SNP G G A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr12:109872885G>A uc010sxn.1 + 20 2059 c.2059G>A c.(2059-2061)GAA>AAA p.E687K NM_001101421 NP_001094891 Q8N1T3 MYO1H_HUMAN myosin 1H Error:Variant_position_missing_in_B4DNW6_after_alignment myosin complex motor activity 0 GTTTGCTACCGAAGATGCCTT 0.333 NA 11 21 0 0 0.013537 0 0 NOS1 4842 broad.mit.edu 37 12 117672562 117672562 + Missense_Mutation SNP G G A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr12:117672562G>A uc001twm.1 - 21 3729 c.3043C>T c.(3043-3045)CGG>TGG p.R1015W NM_000620 NP_000611 P29475 NOS1_HUMAN nitric oxide synthase 1, neuronal 1015 FAD-binding FR-type. multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding ovary(3)|skin(3)|pancreas(1) 7 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) ATAGTTGACCGACTGCAGGAA 0.473 Esophageal Squamous(162;1748 2599 51982 52956) NA 4 24 0 0 0.001168 0 0 KNTC1 9735 broad.mit.edu 37 12 123087269 123087269 + Missense_Mutation SNP A A C TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr12:123087269A>C uc001ucv.2 + 46 4970 c.4807A>C c.(4807-4809)AAC>CAC p.N1603H KNTC1_uc010taf.1_Intron NM_014708 NP_055523 P50748 KNTC1_HUMAN Rough Deal homolog, centromere/kinetochore 1603 cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole protein binding ovary(5)|kidney(3)|lung(1)|central_nervous_system(1) 10 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217) CACAGCACAGAACTTCTGGAA 0.353 NA 7 36 0 0 0.00308 0 0 SHISA2 387914 broad.mit.edu 37 13 26620830 26620830 + Missense_Mutation SNP G G A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr13:26620830G>A uc001uqm.1 - 2 794 c.709C>T c.(709-711)CCA>TCA p.P237S NM_001007538 NP_001007539 Q6UWI4 SHSA2_HUMAN shisa homolog 2 precursor 237 Cytoplasmic (Potential). multicellular organismal development endoplasmic reticulum membrane|integral to membrane ovary(1)|central_nervous_system(1) 2 CCTTGATGTGGCACAATCTGG 0.557 NA 3 56 0 0 0.004672 0 0 ZC3H13 23091 broad.mit.edu 37 13 46559563 46559563 + Missense_Mutation SNP C C T TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr13:46559563C>T uc010tfw.1 - 9 1595 c.1589G>A c.(1588-1590)GGC>GAC p.G530D ZC3H13_uc001vas.1_Missense_Mutation_p.G530D|ZC3H13_uc001vat.1_Missense_Mutation_p.G530D NM_015070 NP_055885 Q5T200 ZC3HD_HUMAN zinc finger CCCH-type containing 13 530 Arg/Ser-rich. nucleic acid binding|zinc ion binding ovary(1)|lung(1) 2 Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;4.18e-05) ATGGTTTCGGCCATAACTCCG 0.463 Esophageal Squamous(187;747 2077 11056 31291 44172) NA 13 59 0 0 0.016723 0 0 WDR25 79446 broad.mit.edu 37 14 100847837 100847837 + Silent SNP C C T TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr14:100847837C>T uc010avx.2 + 2 669 c.576C>T c.(574-576)GGC>GGT p.G192G WDR25_uc001yhm.2_Silent_p.G184G|WDR25_uc001yhn.2_Silent_p.G192G|WDR25_uc010avy.2_RNA|WDR25_uc001yho.2_5'Flank NM_001161476 NP_001154948 Q64LD2 WDR25_HUMAN WD repeat domain 25 192 0 Melanoma(154;0.212) CGGAGACAGGCAAGGGTAAAG 0.542 NA 5 87 0 0 0.001168 0 0 BRF1 2972 broad.mit.edu 37 14 105692426 105692426 + Missense_Mutation SNP A A C TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr14:105692426A>C uc001yqp.2 - 10 1391 c.1028T>G c.(1027-1029)CTG>CGG p.L343R BRF1_uc010tyo.1_Missense_Mutation_p.L228R|BRF1_uc010typ.1_Missense_Mutation_p.L228R|BRF1_uc001yql.2_Missense_Mutation_p.L139R|BRF1_uc001yqo.2_Missense_Mutation_p.L105R|BRF1_uc010axg.1_Missense_Mutation_p.L316R|BRF1_uc001yqn.2_Intron|BRF1_uc010axh.1_Intron NM_001519 NP_001510 Q92994 TF3B_HUMAN transcription initiation factor IIIB isoform 1 343 positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription transcription factor TFIIIB complex translation initiation factor activity|zinc ion binding large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1) 4 all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221) Epithelial(152;0.14) CAGGCTGGCCAGGCCCCCCTT 0.363 NA 15 65 0 0 0.003163 0 0 USP8 9101 broad.mit.edu 37 15 50769639 50769639 + Silent SNP T T G TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr15:50769639T>G uc001zym.3 + 11 1661 c.1161T>G c.(1159-1161)TCT>TCG p.S387S USP8_uc001zyk.1_Silent_p.S88S|USP8_uc001zyl.3_Silent_p.S387S|USP8_uc001zyn.3_Silent_p.S387S|USP8_uc010ufh.1_Silent_p.S310S|USP8_uc010bev.1_Silent_p.S16S NM_001128611 NP_001122083 P40818 UBP8_HUMAN ubiquitin specific peptidase 8 387 cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process cytosol|early endosome|extrinsic to plasma membrane|nucleus cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity lung(1)|central_nervous_system(1) 2 all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771) TTGCTGCTTCTAAATCTGATG 0.338 NA 17 53 0 0 0.008871 0 0 ADAMTS7 11173 broad.mit.edu 37 15 79058500 79058500 + Silent SNP G G A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr15:79058500G>A uc002bej.3 - 19 3964 c.3753C>T c.(3751-3753)TCC>TCT p.S1251S ADAMTS7_uc010und.1_3'UTR NM_014272 NP_055087 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 1251 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding 0 GACTAGGAGAGGAGTGGGTGC 0.662 NA 15 33 0 0 0.004007 0 0 ARNT2 9915 broad.mit.edu 37 15 80869214 80869214 + Silent SNP G G A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr15:80869214G>A uc002bfr.2 + 15 1687 c.1521G>A c.(1519-1521)AAG>AAA p.K507K ARNT2_uc010unm.1_Silent_p.K496K|ARNT2_uc002bfs.2_Silent_p.K496K NM_014862 NP_055677 Q9HBZ2 ARNT2_HUMAN aryl hydrocarbon receptor nuclear translocator 507 central nervous system development|in utero embryonic development|response to hypoxia aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity central_nervous_system(3)|ovary(1)|pancreas(1) 5 BRCA - Breast invasive adenocarcinoma(143;0.134) TAGCGGAGAAGAAGATGATGA 0.582 NA 27 65 0 0 0.009535 0 0 ARNT2 9915 broad.mit.edu 37 15 80869217 80869217 + Silent SNP G G A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr15:80869217G>A uc002bfr.2 + 15 1690 c.1524G>A c.(1522-1524)AAG>AAA p.K508K ARNT2_uc010unm.1_Silent_p.K497K|ARNT2_uc002bfs.2_Silent_p.K497K NM_014862 NP_055677 Q9HBZ2 ARNT2_HUMAN aryl hydrocarbon receptor nuclear translocator 508 central nervous system development|in utero embryonic development|response to hypoxia aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity central_nervous_system(3)|ovary(1)|pancreas(1) 5 BRCA - Breast invasive adenocarcinoma(143;0.134) CGGAGAAGAAGATGATGAGCT 0.582 NA 27 68 0 0 0.00632 0 0 IDH2 3418 broad.mit.edu 37 15 90634804 90634804 + Nonsense_Mutation SNP C C T TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr15:90634804C>T uc002box.2 - 2 274 c.188G>A c.(187-189)TGG>TAG p.W63* IDH2_uc010uqb.1_Nonsense_Mutation_p.W11*|IDH2_uc010uqc.1_Intron|IDH2_uc010bnu.2_Nonsense_Mutation_p.W63* NM_002168 NP_002159 P48735 IDHP_HUMAN isocitrate dehydrogenase 2 (NADP+), 63 2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle mitochondrial matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding haematopoietic_and_lymphoid_tissue(621)|central_nervous_system(80)|bone(7)|skin(3) 711 Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106) GATGAACTGCCAGATAATACG 0.562 NA M GBM 3 105 0 0 0.004672 0 0 SRRM2 23524 broad.mit.edu 37 16 2813050 2813050 + Missense_Mutation SNP C C T TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr16:2813050C>T uc002crk.2 + 11 3070 c.2521C>T c.(2521-2523)CAT>TAT p.H841Y SRRM2_uc002crj.1_Missense_Mutation_p.H745Y|SRRM2_uc002crl.1_Missense_Mutation_p.H841Y|SRRM2_uc010bsu.1_Missense_Mutation_p.H745Y NM_016333 NP_057417 Q9UQ35 SRRM2_HUMAN splicing coactivator subunit SRm300 841 Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 TTCATCTCCTCATCCTAAAGT 0.493 NA 43 102 0 0 0.00874 0 0 GTF3C1 2975 broad.mit.edu 37 16 27481580 27481580 + Missense_Mutation SNP C C T TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr16:27481580C>T uc002dov.1 - 31 4703 c.4663G>A c.(4663-4665)GAC>AAC p.D1555N GTF3C1_uc002dou.2_Missense_Mutation_p.D1555N NM_001520 NP_001511 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1555 transcription factor TFIIIC complex DNA binding|protein binding ovary(2)|pancreas(1)|breast(1)|skin(1) 5 GCCACCATGTCGTTTGTGGGC 0.537 NA 28 102 0 0 0.013726 0 0 ZNF48 197407 broad.mit.edu 37 16 30408675 30408675 + Missense_Mutation SNP C C T TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr16:30408675C>T uc002dya.1 + 2 163 c.104C>T c.(103-105)TCT>TTT p.S35F ZNF48_uc002dxz.1_5'UTR NM_152652 NP_689865 Q96MX3 ZNF48_HUMAN zinc finger protein 48 35 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 AACGTGATTTCTCAGCCGAAT 0.468 NA 15 54 0 0 0.006122 0 0 ZNF48 197407 broad.mit.edu 37 16 30409150 30409150 + Missense_Mutation SNP C C G TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr16:30409150C>G uc002dya.1 + 2 638 c.579C>G c.(577-579)ATC>ATG p.I193M ZNF48_uc002dxz.1_Missense_Mutation_p.I70M NM_152652 NP_689865 Q96MX3 ZNF48_HUMAN zinc finger protein 48 193 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GCCCCACTATCTGTGGTGAAT 0.592 NA 10 29 0 0 0.008291 0 0 SRCAP 10847 broad.mit.edu 37 16 30732059 30732059 + Missense_Mutation SNP G G C TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr16:30732059G>C uc002dze.1 + 20 3398 c.3013G>C c.(3013-3015)GAA>CAA p.E1005Q SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.E862Q|SRCAP_uc010bzz.1_Missense_Mutation_p.E575Q NM_006662 NP_006653 Q6ZRS2 SRCAP_HUMAN Snf2-related CBP activator protein 1005 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity ovary(3)|skin(1) 4 Colorectal(24;0.198) ACCTAAGCAAGAAGGCCGGAC 0.537 NA 42 97 0 0 0.007835 0 0 PHKB 5257 broad.mit.edu 37 16 47533691 47533691 + Missense_Mutation SNP A A G TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr16:47533691A>G uc002eev.3 + 3 243 c.191A>G c.(190-192)CAA>CGA p.Q64R PHKB_uc010vgi.1_Missense_Mutation_p.Q57R|PHKB_uc002eeu.3_Missense_Mutation_p.Q57R NM_000293 NP_000284 Q93100 KPBB_HUMAN phosphorylase kinase, beta isoform a 64 glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity ovary(1)|large_intestine(1)|breast(1) 3 all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203) CTGCTGTATCAAAGTCCAACT 0.473 NA 33 82 0 0 0.013726 0 0 TSR1 55720 broad.mit.edu 37 17 2234267 2234267 + Missense_Mutation SNP C C T TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr17:2234267C>T uc002fuj.2 - 9 2590 c.1633G>A c.(1633-1635)GAA>AAA p.E545K SNORD91B_uc002fuk.1_5'Flank|SNORD91A_uc002ful.1_5'Flank NM_018128 NP_060598 Q2NL82 TSR1_HUMAN TSR1, 20S rRNA accumulation 545 ribosome assembly nucleolus protein binding ovary(1) 1 TCTTTTTCTTCAACCTCTTTA 0.378 NA 7 22 0 0 0.00308 0 0 DNAH9 1770 broad.mit.edu 37 17 11631220 11631220 + Nonsense_Mutation SNP T T A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr17:11631220T>A uc002gne.2 + 28 5863 c.5795T>A c.(5794-5796)TTG>TAG p.L1932* DNAH9_uc010coo.2_Nonsense_Mutation_p.L1226* NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 1932 AAA 1 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) GTGGAGGTCTTGTCAGTGGTG 0.493 NA 12 15 0 0 0.013537 0 0 NUFIP2 57532 broad.mit.edu 37 17 27613317 27613317 + Silent SNP G G A rs150088850 TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr17:27613317G>A uc002hdy.3 - 2 1784 c.1695C>T c.(1693-1695)TAC>TAT p.Y565Y NUFIP2_uc002hdx.3_Intron NM_020772 NP_065823 Q7Z417 NUFP2_HUMAN nuclear fragile X mental retardation protein 565 nucleus|polysomal ribosome protein binding|RNA binding skin(2)|ovary(1)|breast(1) 4 BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551) TCTCCAGCTCGTAAGCCTTGG 0.463 NA 7 53 0 0 0.00308 0 0 KPNA2 3838 broad.mit.edu 37 17 66042019 66042019 + Missense_Mutation SNP G G C TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr17:66042019G>C uc002jgk.2 + 10 1611 c.1479G>C c.(1477-1479)GAG>GAC p.E493D KPNA2_uc002jgl.2_Missense_Mutation_p.E493D NM_002266 NP_002257 P52292 IMA2_HUMAN karyopherin alpha 2 493 ARM 10; atypical. DNA metabolic process|G2 phase of mitotic cell cycle|interspecies interaction between organisms|M phase specific microtubule process|NLS-bearing substrate import into nucleus|regulation of DNA recombination cytoplasm|nuclear pore|nucleoplasm histone deacetylase binding|nuclear localization sequence binding|protein transporter activity central_nervous_system(2) 2 all_cancers(12;1.18e-09) BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24) GCTTAATTGAGAAGTATTTCT 0.318 NA 17 74 0 0 0.007413 0 0 METTL4 64863 broad.mit.edu 37 18 2567170 2567170 + Missense_Mutation SNP G G C TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr18:2567170G>C uc002klh.3 - 2 826 c.46C>G c.(46-48)CTT>GTT p.L16V NM_022840 NP_073751 Q8N3J2 METL4_HUMAN methyltransferase like 4 16 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process methyltransferase activity|nucleic acid binding kidney(1)|skin(1) 2 ATAAAAGAAAGATGATCCAGT 0.393 NA 23 33 0 0 0.014323 0 0 POTEC 388468 broad.mit.edu 37 18 14542654 14542654 + Silent SNP C C A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr18:14542654C>A uc010dln.2 - 1 946 c.492G>T c.(490-492)ACG>ACT p.T164T POTEC_uc010xaj.1_RNA NM_001137671 NP_001131143 B2RU33 POTEC_HUMAN ANKRD26-like family B, member 2 164 ANK 1. skin(3) 3 TGTTCATGTCCGTGTCCCTGA 0.592 NA 4 100 0.00909568 0.00954209 0.009096 1 0 DSG3 1830 broad.mit.edu 37 18 29039000 29039000 + Missense_Mutation SNP C C A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr18:29039000C>A uc002kws.2 + 5 486 c.377C>A c.(376-378)ACA>AAA p.T126K NM_001944 NP_001935 P32926 DSG3_HUMAN desmoglein 3 preproprotein 126 Extracellular (Potential).|Cadherin 1. cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding skin(4)|ovary(3)|lung(1)|central_nervous_system(1) 9 OV - Ovarian serous cystadenocarcinoma(10;0.00504) TCCTAGATCACATGTCGGGCT 0.363 NA 14 22 2.31682e-05 2.52342e-05 0.003163 1 0 ALPK2 115701 broad.mit.edu 37 18 56246449 56246449 + Missense_Mutation SNP A A C TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr18:56246449A>C uc002lhj.3 - 4 1773 c.1559T>G c.(1558-1560)GTG>GGG p.V520G NM_052947 NP_443179 Q86TB3 ALPK2_HUMAN heart alpha-kinase 520 ATP binding|protein serine/threonine kinase activity ovary(7)|skin(5)|lung(1)|central_nervous_system(1) 14 CTTTCCCCCCACTCTCTTGTC 0.522 NA OREG0025011 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 109 0 0 0.001168 0 0 THOP1 7064 broad.mit.edu 37 19 2813149 2813150 + Missense_Mutation DNP GG GG TT TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr19:2813149_2813150GG>TT uc002lwj.2 + 13 2100_2101 c.1945_1946GG>TT c.(1945-1947)GGC>TTC p.G649F THOP1_uc010xgz.1_Missense_Mutation_p.G528F|THOP1_uc002lwk.2_Missense_Mutation_p.G218F NM_003249 NP_003240 P52888 THOP1_HUMAN thimet oligopeptidase 1 649 proteolysis cytoplasm metal ion binding|metalloendopeptidase activity|protein binding ovary(2)|central_nervous_system(1) 3 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCTGAGACCCGGCGGTTCCGAG 0.678 NA 9 11 0 0 0.004672 0 0 KEAP1 9817 broad.mit.edu 37 19 10610574 10610574 + Nonsense_Mutation SNP G G A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr19:10610574G>A uc002moq.1 - 2 292 c.136C>T c.(136-138)CAG>TAG p.Q46* KEAP1_uc002mor.1_Nonsense_Mutation_p.Q46* NM_012289 NP_036421 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 46 regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding lung(12)|breast(3)|ovary(1)|pancreas(1) 17 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) TTGCCATGCTGGGAGGGCGTC 0.632 NA 22 50 0 0 0.004656 0 0 SMARCA4 6597 broad.mit.edu 37 19 11100021 11100021 + Nonsense_Mutation SNP C C T TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr19:11100021C>T uc002mqf.3 + 7 1431 c.1147C>T c.(1147-1149)CAG>TAG p.Q383* SMARCA4_uc010dxp.2_Nonsense_Mutation_p.Q383*|SMARCA4_uc010dxo.2_Nonsense_Mutation_p.Q383*|SMARCA4_uc002mqg.1_Nonsense_Mutation_p.Q383*|SMARCA4_uc010dxq.2_Nonsense_Mutation_p.Q383*|SMARCA4_uc010dxr.2_Nonsense_Mutation_p.Q383*|SMARCA4_uc002mqj.3_Nonsense_Mutation_p.Q383*|SMARCA4_uc010dxs.2_Nonsense_Mutation_p.Q383*|SMARCA4_uc002mqe.2_Nonsense_Mutation_p.Q383* NM_003072 NP_003063 P51532 SMCA4_HUMAN SWI/SNF-related matrix-associated 383 chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1) 67 all_lung(6;0.0512)|Lung NSC(9;0.0568) ACACCGAATTCAGGAACTTGA 0.602 NA F|N|Mis NSCLC Rhabdoid_Predisposition_syndrome 11 40 0 0 0.010729 0 0 TSHZ3 57616 broad.mit.edu 37 19 31768163 31768163 + Missense_Mutation SNP C C G TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr19:31768163C>G uc002nsy.3 - 2 2601 c.2536G>C c.(2536-2538)GAT>CAT p.D846H NM_020856 NP_065907 Q63HK5 TSH3_HUMAN zinc finger protein 537 846 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(2)|pancreas(1)|lung(1) 8 Esophageal squamous(110;0.226) TCGGATATATCTGACAAGGCA 0.527 NA 58 47 0 0 0.01441 0 0 SUPT5H 6829 broad.mit.edu 37 19 39962250 39962250 + Silent SNP A A G TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr19:39962250A>G uc002olo.3 + 20 2009 c.1830A>G c.(1828-1830)CGA>CGG p.R610R SUPT5H_uc002olp.3_Silent_p.R610R|SUPT5H_uc002olq.3_Silent_p.R606R|SUPT5H_uc002oln.3_Silent_p.R610R|SUPT5H_uc002olr.3_Silent_p.R610R|SUPT5H_uc002ols.1_Silent_p.R233R|SUPT5H_uc010egp.1_5'UTR NM_001111020 NP_001104490 O00267 SPT5H_HUMAN suppressor of Ty 5 homolog isoform a 610 KOW 4. cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter nucleoplasm enzyme binding|protein heterodimerization activity ovary(3)|pancreas(1) 4 all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159) Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) GCTAGGGCCGAGAAGGGGAGA 0.552 NA 30 20 0 0 0.009535 0 0 FLT3LG 2323 broad.mit.edu 37 19 49982278 49982278 + Missense_Mutation SNP G G T TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr19:49982278G>T uc010yau.1 + 6 545 c.455G>T c.(454-456)CGG>CTG p.R152L FLT3LG_uc002pnv.2_Missense_Mutation_p.R70L|FLT3LG_uc002pnw.2_Missense_Mutation_p.R70L|FLT3LG_uc002pnu.2_Missense_Mutation_p.R152L|FLT3LG_uc002pnx.2_Missense_Mutation_p.R152L|FLT3LG_uc010yav.1_Missense_Mutation_p.R70L NM_001459 NP_001450 P49771 FLT3L_HUMAN fms-related tyrosine kinase 3 ligand precursor 152 Extracellular (Potential). positive regulation of cell proliferation|signal transduction extracellular space|integral to membrane|plasma membrane|soluble fraction cytokine activity 0 all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246) AACTTCTCCCGGTGCCTGGAG 0.637 NA 7 7 0.000157383 0.000168203 0.00308 1 0 ZNF473 25888 broad.mit.edu 37 19 50548183 50548183 + Silent SNP C C T TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr19:50548183C>T uc002prn.2 + 5 720 c.483C>T c.(481-483)ACC>ACT p.T161T ZNF473_uc002prm.2_Silent_p.T161T|ZNF473_uc010ybo.1_Silent_p.T149T NM_001006656 NP_001006657 Q8WTR7 ZN473_HUMAN zinc finger protein 473 161 histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription Cajal body DNA binding|protein binding|zinc ion binding ovary(1)|central_nervous_system(1) 2 all_neural(266;0.0459)|Ovarian(192;0.0728) GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058) CTGTGTCCACCGTTTCCACGG 0.468 NA 3 63 0 0 0.004672 0 0 APOB 338 broad.mit.edu 37 2 21234442 21234442 + Missense_Mutation SNP G G C TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr2:21234442G>C uc002red.2 - 26 5426 c.5298C>G c.(5296-5298)TTC>TTG p.F1766L NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 1766 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) GTTTTGAAGAGAAGTCCAGTG 0.373 NA 38 112 0 0 0.017118 0 0 DHX57 90957 broad.mit.edu 37 2 39089319 39089319 + Silent SNP T T A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr2:39089319T>A uc002rrf.2 - 4 639 c.540A>T c.(538-540)ACA>ACT p.T180T DHX57_uc002rre.2_5'UTR|DHX57_uc002rrg.2_Silent_p.T180T NM_198963 NP_945314 Q6P158 DHX57_HUMAN DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 180 UBA. ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding ovary(1)|lung(1)|skin(1) 3 all_hematologic(82;0.248) ATGGGGAGACTGTAAATTCTG 0.458 Melanoma(191;1090 2095 4375 23729 47341) NA 8 35 0 0 0.00308 0 0 DYSF 8291 broad.mit.edu 37 2 71795381 71795381 + Missense_Mutation SNP C C T TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr2:71795381C>T uc002sie.2 + 26 3099 c.2723C>T c.(2722-2724)ACG>ATG p.T908M DYSF_uc010feg.2_Missense_Mutation_p.T939M|DYSF_uc010feh.2_Missense_Mutation_p.T894M|DYSF_uc002sig.3_Missense_Mutation_p.T894M|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.T908M|DYSF_uc010fef.2_Missense_Mutation_p.T925M|DYSF_uc010fei.2_Missense_Mutation_p.T925M|DYSF_uc010fek.2_Missense_Mutation_p.T926M|DYSF_uc010fej.2_Missense_Mutation_p.T895M|DYSF_uc010fel.2_Missense_Mutation_p.T895M|DYSF_uc010feo.2_Missense_Mutation_p.T940M|DYSF_uc010fem.2_Missense_Mutation_p.T909M|DYSF_uc010fen.2_Missense_Mutation_p.T926M|DYSF_uc002sif.2_Missense_Mutation_p.T909M NM_003494 NP_003485 O75923 DYSF_HUMAN dysferlin isoform 8 908 Cytoplasmic (Potential). cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding ovary(3)|breast(2)|pancreas(1)|skin(1) 7 TCTGACGTCACGGGCAAGATC 0.592 NA 11 346 0 0 0.008291 0 0 C2orf29 55571 broad.mit.edu 37 2 101874279 101874279 + Missense_Mutation SNP G G A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr2:101874279G>A uc002taw.3 + 2 623 c.541G>A c.(541-543)GAA>AAA p.E181K NM_017546 NP_060016 Q9UKZ1 CB029_HUMAN hypothetical protein LOC55571 181 cell proliferation|nuclear-transcribed mRNA poly(A) tail shortening cytosol ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 AACTCCACCAGAAAAGTTTTT 0.413 NA 21 47 0 0 0.004656 0 0 C2orf29 55571 broad.mit.edu 37 2 101874347 101874347 + Missense_Mutation SNP G G C TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr2:101874347G>C uc002taw.3 + 2 691 c.609G>C c.(607-609)CAG>CAC p.Q203H NM_017546 NP_060016 Q9UKZ1 CB029_HUMAN hypothetical protein LOC55571 203 cell proliferation|nuclear-transcribed mRNA poly(A) tail shortening cytosol ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 CGCCTCGCCAGATTGCACTGA 0.493 NA 29 46 0 0 0.007291 0 0 TANC1 85461 broad.mit.edu 37 2 160086373 160086373 + Missense_Mutation SNP C C G TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr2:160086373C>G uc002uag.2 + 27 4710 c.4436C>G c.(4435-4437)CCA>CGA p.P1479R TANC1_uc010zcm.1_3'UTR|TANC1_uc010fon.2_Missense_Mutation_p.P323R NM_033394 NP_203752 Q9C0D5 TANC1_HUMAN tetratricopeptide repeat, ankyrin repeat and 1479 cell junction|postsynaptic density|postsynaptic membrane binding ovary(2)|central_nervous_system(1) 3 AGGTCCCAGCCATCCTCATCT 0.532 NA 28 65 0 0 0.007291 0 0 XIRP2 129446 broad.mit.edu 37 2 168104901 168104901 + Silent SNP G G A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr2:168104901G>A uc002udx.2 + 8 7017 c.6999G>A c.(6997-6999)AAG>AAA p.K2333K XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.K2158K|XIRP2_uc010fpq.2_Silent_p.K2111K|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 2158 Pro-rich. actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 CCACAGAGAAGATAAAGGCTG 0.433 NA 31 80 0 0 0.010818 0 0 WIPF1 7456 broad.mit.edu 37 2 175436481 175436481 + Missense_Mutation SNP G G A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr2:175436481G>A uc002uiy.2 - 6 1384 c.1052C>T c.(1051-1053)CCA>CTA p.P351L uc002uiw.2_Intron|uc002uix.1_Intron|WIPF1_uc002uja.2_Missense_Mutation_p.P351L|WIPF1_uc010fqt.1_Missense_Mutation_p.P351L|WIPF1_uc002ujc.1_Missense_Mutation_p.P351L|WIPF1_uc002uiz.2_Missense_Mutation_p.P351L|WIPF1_uc002ujb.1_Missense_Mutation_p.P351L|WIPF1_uc010zep.1_Missense_Mutation_p.P351L NM_003387 NP_003378 O43516 WIPF1_HUMAN WAS/WASL interacting protein family, member 1 351 Pro-rich. actin polymerization or depolymerization|protein complex assembly cytoplasmic membrane-bounded vesicle actin binding|profilin binding ovary(1)|skin(1) 2 TGAACGTCCTGGCGAAGGTAA 0.627 NA 25 33 0 0 0.021523 0 0 SF3B1 23451 broad.mit.edu 37 2 198274563 198274563 + Missense_Mutation SNP G G A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr2:198274563G>A uc002uue.2 - 7 883 c.835C>T c.(835-837)CCA>TCA p.P279S NM_012433 NP_036565 O75533 SF3B1_HUMAN splicing factor 3b, subunit 1 isoform 1 279 Interaction with PPP1R8. nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex protein binding pancreas(3)|ovary(1)|breast(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.246) CCATGGCCTGGTGTCGCATGG 0.547 NA 6 206 0 0 0.001168 0 0 CXCR1 3577 broad.mit.edu 37 2 219029334 219029334 + Missense_Mutation SNP C C G TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr2:219029334C>G uc002vhc.2 - 2 720 c.601G>C c.(601-603)GTG>CTG p.V201L NM_000634 NP_000625 P25024 CXCR1_HUMAN interleukin 8 receptor alpha 201 Helical; Name=5; (Potential). dendritic cell chemotaxis|inflammatory response integral to membrane|plasma membrane interleukin-8 receptor activity lung(2) 2 ATCCGCAACACCATCCGCCAT 0.517 NA 7 39 0 0 0.004482 0 0 DUSP15 128853 broad.mit.edu 37 20 30451754 30451754 + Silent SNP G G A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr20:30451754G>A uc002wwu.1 - 5 287 c.210C>T c.(208-210)TTC>TTT p.F70F DUSP15_uc002wwv.1_5'UTR|DUSP15_uc002www.1_5'UTR|DUSP15_uc002wwx.1_Silent_p.F73F Q9H1R2 DUS15_HUMAN RecName: Full=Dual specificity protein phosphatase 15; EC=3.1.3.48; EC=3.1.3.16; AltName: Full=Vaccinia virus VH1-related dual-specific protein phosphatase Y; AltName: Full=VH1-related member Y; 70 Tyrosine-protein phosphatase. cytoplasm|plasma membrane protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity pancreas(1) 1 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) AGCAGTGGATGAAGTTGATAC 0.557 NA 17 57 0 0 0.008871 0 0 CECR2 27443 broad.mit.edu 37 22 18022656 18022656 + Missense_Mutation SNP G G A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr22:18022656G>A uc010gqw.1 + 15 2884 c.2758G>A c.(2758-2760)GAG>AAG p.E920K CECR2_uc010gqv.1_Missense_Mutation_p.E779K|CECR2_uc002zml.2_Missense_Mutation_p.E779K NM_031413 NP_113601 Q9BXF3 CECR2_HUMAN cat eye syndrome chromosome region, candidate 2 962 chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport protein binding ovary(1)|skin(1) 2 all_epithelial(15;0.139) Lung(27;0.146) GAGGGCACCGGAGAACAGTGA 0.522 NA 19 15 0 0 0.008871 0 0 MLC1 23209 broad.mit.edu 37 22 50506929 50506929 + Missense_Mutation SNP G G C TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr22:50506929G>C uc003bjg.1 - 10 1100 c.827C>G c.(826-828)TCT>TGT p.S276C MLC1_uc011arl.1_Missense_Mutation_p.S224C|MLC1_uc003bjh.1_Missense_Mutation_p.S276C|MLC1_uc011arm.1_Missense_Mutation_p.S246C|MLC1_uc011arn.1_Missense_Mutation_p.S197C|MLC1_uc011aro.1_Missense_Mutation_p.S242C NM_139202 NP_631941 Q15049 MLC1_HUMAN megalencephalic leukoencephalopathy with 276 Helical; (Potential). basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction ion channel activity pancreas(1) 1 all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113) READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216) CAGATATCCAGAGGCTGTGAA 0.522 NA 28 44 0 0 0.007291 0 0 TUBGCP6 85378 broad.mit.edu 37 22 50682674 50682674 + Missense_Mutation SNP A A G TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr22:50682674A>G uc003bkb.1 - 1 727 c.215T>C c.(214-216)ATG>ACG p.M72T TUBGCP6_uc010har.1_Missense_Mutation_p.M72T|TUBGCP6_uc010has.1_RNA|TUBGCP6_uc010hau.1_Missense_Mutation_p.M72T NM_020461 NP_065194 Q96RT7 GCP6_HUMAN tubulin, gamma complex associated protein 6 72 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding ovary(2)|central_nervous_system(2) 4 all_cancers(38;5.79e-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) LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21) AAAGGACAACATGAGGATCTT 0.517 NA 34 35 0 0 0.00623 0 0 EFHB 151651 broad.mit.edu 37 3 19961408 19961408 + Missense_Mutation SNP C C T TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr3:19961408C>T uc003cbl.3 - 3 1109 c.913G>A c.(913-915)GAA>AAA p.E305K EFHB_uc003cbm.2_Missense_Mutation_p.E175K NM_144715 NP_653316 Q8N7U6 EFHB_HUMAN EF hand domain family, member B 305 signal transduction proteinaceous extracellular matrix calcium ion binding 0 AATACTCTTTCTACTCCAGCA 0.343 NA 18 61 0 0 0.007413 0 0 NGLY1 55768 broad.mit.edu 37 3 25781184 25781184 + Silent SNP T T A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr3:25781184T>A uc003cdl.2 - 5 873 c.765A>T c.(763-765)GGA>GGT p.G255G NGLY1_uc010hfg.2_Silent_p.G255G|NGLY1_uc003cdm.2_Silent_p.G255G|NGLY1_uc011awo.1_Silent_p.G213G|NGLY1_uc003cdk.2_Intron NM_018297 NP_060767 Q96IV0 NGLY1_HUMAN N-glycanase 1 isoform 1 255 glycoprotein catabolic process cytoplasm metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding breast(1) 1 ACCTAGTCTGTCCACCACATT 0.423 NA 30 75 0 0 0.008361 0 0 NCKIPSD 51517 broad.mit.edu 37 3 48719904 48719904 + Silent SNP G G A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr3:48719904G>A uc003cun.2 - 3 457 c.363C>T c.(361-363)ACC>ACT p.T121T NCKIPSD_uc003cum.2_Silent_p.T121T|NCKIPSD_uc010hkh.1_Silent_p.T121T NM_016453 NP_057537 Q9NZQ3 SPN90_HUMAN NCK interacting protein with SH3 domain isoform 121 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) GGTGGTCACTGGTTGATGAGG 0.582 NA 3 51 0 0 0.004672 0 0 ROBO1 6091 broad.mit.edu 37 3 78710334 78710334 + Missense_Mutation SNP G G T TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr3:78710334G>T uc003dqe.2 - 16 2374 c.2166C>A c.(2164-2166)GAC>GAA p.D722E ROBO1_uc003dqb.2_Missense_Mutation_p.D683E|ROBO1_uc003dqc.2_Missense_Mutation_p.D686E|ROBO1_uc003dqd.2_Missense_Mutation_p.D686E|ROBO1_uc010hoh.2_Translation_Start_Site|ROBO1_uc011bgl.1_Missense_Mutation_p.D294E|ROBO1_uc003dqf.1_Missense_Mutation_p.D401E NM_002941 NP_002932 Q9Y6N7 ROBO1_HUMAN roundabout 1 isoform a 722 Extracellular (Potential).|Fibronectin type-III 2. activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding large_intestine(2) 2 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) AAACTAACCAGTCTGATTCTC 0.398 NA 3 27 0.004672 0.00493156 0.004672 1 0 OR5H15 403274 broad.mit.edu 37 3 97888478 97888478 + Missense_Mutation SNP C C T TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr3:97888478C>T uc011bgu.1 + 1 935 c.935C>T c.(934-936)TCA>TTA p.S312L NM_001005515 NP_001005515 A6NDH6 O5H15_HUMAN olfactory receptor, family 5, subfamily H, 312 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 GTTAAGGTTTCATACTAATAT 0.284 NA 5 21 0 0 0.014758 0 0 C3orf26 84319 broad.mit.edu 37 3 99895199 99895199 + Missense_Mutation SNP T T G TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr3:99895199T>G uc003dtl.2 + 9 839 c.696T>G c.(694-696)TTT>TTG p.F232L NM_032359 NP_115735 Q9BQ75 CC026_HUMAN hypothetical protein LOC84319 232 ATP binding|ATP-dependent helicase activity|nucleic acid binding skin(1) 1 CCTTAAAATTTCTGGTTTTTG 0.388 NA 9 22 0 0 0.008291 0 0 PHLDB2 90102 broad.mit.edu 37 3 111638039 111638039 + Missense_Mutation SNP C C A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr3:111638039C>A uc010hqa.2 + 4 2251 c.1840C>A c.(1840-1842)CAG>AAG p.Q614K PHLDB2_uc003dyc.2_Missense_Mutation_p.Q641K|PHLDB2_uc003dyd.2_Missense_Mutation_p.Q614K|PHLDB2_uc003dyg.2_Missense_Mutation_p.Q614K|PHLDB2_uc003dyh.2_Missense_Mutation_p.Q614K|PHLDB2_uc003dyi.2_Missense_Mutation_p.Q200K NM_001134438 NP_001127910 Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, 614 Potential. cytoplasm|intermediate filament cytoskeleton|plasma membrane ovary(4)|skin(2) 6 CATAAATGATCAGATGGATGA 0.378 NA 16 58 7.07596e-05 7.65816e-05 0.006122 1 0 ITGB5 3693 broad.mit.edu 37 3 124578095 124578095 + Missense_Mutation SNP G G A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr3:124578095G>A uc003eho.2 - 3 652 c.355C>T c.(355-357)CGG>TGG p.R119W NM_002213 NP_002204 P18084 ITB5_HUMAN integrin, beta 5 precursor 119 Extracellular (Potential). cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction integrin complex receptor activity skin(2) 2 GBM - Glioblastoma multiforme(114;0.163) TCACCGGGCCGGAGGTTCACG 0.592 NA 20 55 0 0 0.012319 0 0 MLF1 4291 broad.mit.edu 37 3 158322896 158322896 + Nonsense_Mutation SNP C C T TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr3:158322896C>T uc003fcb.2 + 7 849 c.712C>T c.(712-714)CAA>TAA p.Q238* MLF1_uc003fbz.2_Nonsense_Mutation_p.Q213*|MLF1_uc003fca.2_Nonsense_Mutation_p.Q213*|MLF1_uc003fbx.2_Nonsense_Mutation_p.Q228*|MLF1_uc003fcc.2_Nonsense_Mutation_p.Q269*|MLF1_uc003fby.2_Nonsense_Mutation_p.Q164*|MLF1_uc010hvx.2_Nonsense_Mutation_p.Q170* NM_022443 NP_071888 P58340 MLF1_HUMAN myeloid leukemia factor 1 isoform 1 238 cell cycle arrest|myeloid progenitor cell differentiation|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein domain specific binding 0 Melanoma(1037;0.000458)|Prostate(884;0.0235)|all_neural(597;0.0299) Lung(72;0.00199)|LUSC - Lung squamous cell carcinoma(72;0.00256) GGAGAAACCTCAACAAAGTCC 0.328 NA T NPM1 AML 4 13 0 0 0.009096 0 0 CNO 55330 broad.mit.edu 37 4 6718324 6718324 + Missense_Mutation SNP C C T TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr4:6718324C>T uc003gjp.1 + 1 483 c.388C>T c.(388-390)CGC>TGC p.R130C NM_018366 NP_060836 Q9NUP1 CNO_HUMAN cappuccino 130 cellular membrane organization|post-Golgi vesicle-mediated transport cytosol 0 Colorectal(103;0.0523) CGAGATGCGGCGCATCTACAG 0.692 NA 9 10 0 0 0.004482 0 0 PCDH10 57575 broad.mit.edu 37 4 134073258 134073258 + Missense_Mutation SNP G G A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr4:134073258G>A uc003iha.2 + 1 2789 c.1963G>A c.(1963-1965)GAG>AAG p.E655K uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.E655K NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN protocadherin 10 isoform 1 precursor 655 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(193;0.227) GCGGCCTTATGAGCTGGTGAT 0.662 NA 10 17 0 0 0.006214 0 0 C4orf41 60684 broad.mit.edu 37 4 184596357 184596357 + Missense_Mutation SNP G G T TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr4:184596357G>T uc003ivx.2 + 7 877 c.701G>T c.(700-702)AGT>ATT p.S234I C4orf41_uc003ivw.2_Missense_Mutation_p.S234I|C4orf41_uc010isc.2_Intron NM_021942 NP_068761 Q7Z392 CD041_HUMAN hypothetical protein LOC60684 isoform a 234 0 all_lung(41;4.4e-14)|Lung NSC(41;1.03e-13)|Colorectal(36;0.00139)|all_hematologic(60;0.00756)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.202) all cancers(43;1.39e-26)|Epithelial(43;2.42e-22)|OV - Ovarian serous cystadenocarcinoma(60;6.85e-10)|GBM - Glioblastoma multiforme(59;6.71e-06)|Colorectal(24;9.67e-06)|STAD - Stomach adenocarcinoma(60;2.36e-05)|COAD - Colon adenocarcinoma(29;7.07e-05)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.171) GCTTTCTTCAGTGAGTTGAAA 0.249 NA 7 7 0.00448238 0.00476079 0.004482 1 0 ZFYVE16 9765 broad.mit.edu 37 5 79734068 79734068 + Missense_Mutation SNP G G A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr5:79734068G>A uc003kgr.3 + 4 1866 c.1564G>A c.(1564-1566)GCA>ACA p.A522T ZFYVE16_uc010jak.1_Missense_Mutation_p.A522T|ZFYVE16_uc003kgp.2_Missense_Mutation_p.A522T|ZFYVE16_uc003kgq.3_Missense_Mutation_p.A522T|ZFYVE16_uc003kgs.3_Missense_Mutation_p.A522T NM_001105251 NP_001098721 Q7Z3T8 ZFY16_HUMAN zinc finger, FYVE domain containing 16 522 BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization early endosome membrane 1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity 0 Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36) TGATGAAGGCGCAAAAAGTGG 0.353 Melanoma(150;1452 1854 16018 17851 37292) NA 3 68 0 0 0.009096 0 0 GPR98 84059 broad.mit.edu 37 5 89923136 89923136 + Missense_Mutation SNP A A T TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr5:89923136A>T uc003kju.2 + 7 877 c.781A>T c.(781-783)AGT>TGT p.S261C GPR98_uc003kjt.2_5'UTR NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 261 Extracellular (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) GAAAAATGATAGTCCCGTGAG 0.353 NA 22 64 0 0 0.012319 0 0 ZNF474 133923 broad.mit.edu 37 5 121488198 121488198 + Missense_Mutation SNP T T G rs150551514 by1000genomes TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr5:121488198T>G uc003ksv.2 + 2 889 c.513T>G c.(511-513)TGT>TGG p.C171W NM_207317 NP_997200 Q6S9Z5 ZN474_HUMAN zinc finger protein 474 171 C2H2-type; degenerate. intracellular zinc ion binding 0 all_cancers(142;0.229)|Prostate(80;0.0387) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415) GTGAATCCTGTGGCCGCACAT 0.532 NA 12 28 0 0 0.013537 0 0 KDM3B 51780 broad.mit.edu 37 5 137734048 137734048 + Missense_Mutation SNP G G C TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr5:137734048G>C uc003lcy.1 + 10 3213 c.3013G>C c.(3013-3015)GAG>CAG p.E1005Q KDM3B_uc010jew.1_Missense_Mutation_p.E661Q|KDM3B_uc011cys.1_Missense_Mutation_p.E37Q NM_016604 NP_057688 Q7LBC6 KDM3B_HUMAN jumonji domain containing 1B 1005 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen ovary(3)|upper_aerodigestive_tract(2)|lung(2)|kidney(2)|central_nervous_system(1)|skin(1) 11 CGTAATGTCTGAGAAGGAGGC 0.473 NA 18 47 0 0 0.006122 0 0 PCDHB14 56122 broad.mit.edu 37 5 140605416 140605416 + Missense_Mutation SNP G G T TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr5:140605416G>T uc003ljb.2 + 1 2339 c.2339G>T c.(2338-2340)GGT>GTT p.G780V PCDHB14_uc011dal.1_Missense_Mutation_p.G627V NM_018934 NP_061757 Q9Y5E9 PCDBE_HUMAN protocadherin beta 14 precursor 780 Cytoplasmic (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CATGACACTGGTAGGAATATG 0.373 Ovarian(141;50 1831 27899 33809 37648) NA 24 65 2.21704e-12 2.66981e-12 0.016522 1 0 PCDHGB2 56103 broad.mit.edu 37 5 140741814 140741814 + Missense_Mutation SNP C C G TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr5:140741814C>G uc003ljs.1 + 1 2112 c.2112C>G c.(2110-2112)TTC>TTG p.F704L 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.F704L|PCDHGA5_uc011das.1_5'Flank NM_018923 NP_061746 Q9Y5G2 PCDGE_HUMAN protocadherin gamma subfamily B, 2 isoform 1 704 Helical; (Potential). 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) TGCTCTTCTTCCTCGCGGTGA 0.582 NA 28 82 0 0 0.00632 0 0 VARS 7407 broad.mit.edu 37 6 31746796 31746796 + Missense_Mutation SNP G G A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr6:31746796G>A uc003nxe.2 - 29 4097 c.3674C>T c.(3673-3675)TCG>TTG p.S1225L C6orf27_uc011dog.1_5'Flank|C6orf27_uc003nxd.2_5'Flank|C6orf27_uc011doh.1_5'Flank|VARS_uc003nxf.1_Missense_Mutation_p.S162L NM_006295 NP_006286 P26640 SYVC_HUMAN valyl-tRNA synthetase 1225 translational elongation|valyl-tRNA aminoacylation cytosol ATP binding|protein binding|valine-tRNA ligase activity upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 L-Valine(DB00161) AGGATAGCCCGAGGCAGCACG 0.657 NA 14 28 0 0 0.016723 0 0 CRISP3 10321 broad.mit.edu 37 6 49704133 49704133 + Missense_Mutation SNP A A T TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr6:49704133A>T uc003ozs.2 - 3 175 c.160T>A c.(160-162)TCT>ACT p.S54T NM_006061 NP_006052 P54108 CRIS3_HUMAN cysteine-rich secretory protein 3 precursor 54 innate immune response proteinaceous extracellular matrix|specific granule skin(2) 2 Lung NSC(77;0.0161) KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156) GCAGGGGGAGATACTGCTCTC 0.463 NA 11 99 0 0 0.008291 0 0 TINAG 27283 broad.mit.edu 37 6 54245341 54245341 + Missense_Mutation SNP G G T TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr6:54245341G>T uc003pcj.2 + 10 1414 c.1268G>T c.(1267-1269)GGA>GTA p.G423V TINAG_uc010jzt.2_RNA NM_014464 NP_055279 Q9UJW2 TINAG_HUMAN tubulointerstitial nephritis antigen 423 cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis basement membrane cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity ovary(3)|central_nervous_system(1) 4 Lung NSC(77;0.0518) LUSC - Lung squamous cell carcinoma(124;0.246) ACACTGAGAGGAGCACAAGGG 0.368 NA 11 13 2.80697e-09 3.26526e-09 0.010729 1 0 BACH2 60468 broad.mit.edu 37 6 90660737 90660737 + Missense_Mutation SNP T T A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr6:90660737T>A uc011eab.1 - 7 1897 c.1088A>T c.(1087-1089)CAC>CTC p.H363L BACH2_uc003pnw.2_Missense_Mutation_p.H363L|BACH2_uc010kch.2_Missense_Mutation_p.H363L NM_021813 NP_068585 Q9BYV9 BACH2_HUMAN BTB and CNC homology 1, basic leucine zipper 363 nucleus protein dimerization activity|sequence-specific DNA binding ovary(3)|pancreas(1)|lung(1)|skin(1) 6 all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063) BRCA - Breast invasive adenocarcinoma(108;0.0799) CCTGGCAAAGTGCTGCTGAGA 0.547 NA 13 28 0 0 0.003163 0 0 SLC22A16 85413 broad.mit.edu 37 6 110763563 110763563 + Missense_Mutation SNP G G T rs140212592 TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr6:110763563G>T uc003puf.2 - 4 1134 c.1067C>A c.(1066-1068)ACG>AAG p.T356K SLC22A16_uc003pue.2_Missense_Mutation_p.T337K NM_033125 NP_149116 Q86VW1 S22AG_HUMAN solute carrier family 22, member 16 356 acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis integral to membrane carnitine transporter activity ovary(1) 1 all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101) OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115) TGTCCTTTTCGTAATGCTCCA 0.393 NA 34 78 5.43694e-19 6.68861e-19 0.005524 1 0 FRK 2444 broad.mit.edu 37 6 116263687 116263687 + Missense_Mutation SNP A A G TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr6:116263687A>G uc003pwi.1 - 8 1855 c.1408T>C c.(1408-1410)TGG>CGG p.W470R NM_002031 NP_002022 P42685 FRK_HUMAN fyn-related kinase 470 Protein kinase. negative regulation of cell proliferation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding ovary(3)|lung(3) 6 all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465) all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625) TCTGCATTCCAGCACTCCAAC 0.418 NA 29 66 0 0 0.007291 0 0 MAP3K5 4217 broad.mit.edu 37 6 136963676 136963676 + Missense_Mutation SNP G G C TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr6:136963676G>C uc003qhc.2 - 12 2181 c.1820C>G c.(1819-1821)TCT>TGT p.S607C MAP3K5_uc011edj.1_5'UTR|MAP3K5_uc011edk.1_Missense_Mutation_p.S452C NM_005923 NP_005914 Q99683 M3K5_HUMAN mitogen-activated protein kinase kinase kinase 607 activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding ovary(2)|skin(2)|lung(1) 5 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569) CCTGACAGAAGAGGCACTAAA 0.333 NA 40 69 0 0 0.011902 0 0 REPS1 85021 broad.mit.edu 37 6 139241422 139241422 + Silent SNP C C A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr6:139241422C>A uc003qii.2 - 12 2037 c.1458G>T c.(1456-1458)GTG>GTT p.V486V REPS1_uc003qig.3_Silent_p.V459V|REPS1_uc011edr.1_Silent_p.V486V|REPS1_uc003qij.2_Silent_p.V459V|REPS1_uc003qik.2_Silent_p.V92V NM_031922 NP_114128 Q96D71 REPS1_HUMAN RALBP1 associated Eps domain containing 1 486 coated pit|plasma membrane calcium ion binding|SH3 domain binding lung(1)|breast(1) 2 GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548) CAGATGGTTTCACAAGTAATG 0.318 NA 16 72 6.94344e-10 8.13239e-10 0.006122 1 0 MIOS 54468 broad.mit.edu 37 7 7612605 7612605 + Missense_Mutation SNP G G A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr7:7612605G>A uc003srf.2 + 4 807 c.499G>A c.(499-501)GAA>AAA p.E167K MIOS_uc010ktp.1_Missense_Mutation_p.E167K NM_019005 NP_061878 Q9NXC5 MIO_HUMAN missing oocyte, meiosis regulator, homolog 167 0 TTCAGCAGGTGAAACTGAAAC 0.383 NA 8 48 0 0 0.00308 0 0 ZMIZ2 83637 broad.mit.edu 37 7 44799010 44799010 + Missense_Mutation SNP G G C TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr7:44799010G>C uc003tlr.2 + 7 1067 c.944G>C c.(943-945)GGC>GCC p.G315A ZMIZ2_uc003tlq.2_Missense_Mutation_p.G283A|ZMIZ2_uc003tls.2_Missense_Mutation_p.G315A|ZMIZ2_uc003tlt.2_5'Flank|ZMIZ2_uc010kyj.2_5'Flank NM_031449 NP_113637 Q8NF64 ZMIZ2_HUMAN zinc finger, MIZ-type containing 2 isoform 1 315 Pro-rich. positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear replication fork ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding ovary(2)|large_intestine(2)|breast(1) 5 CTGCAGCAGGGCATGACCCAG 0.697 NSCLC(20;604 852 1948 16908 50522) NA 15 59 0 0 0.00499 0 0 ZNF804B 219578 broad.mit.edu 37 7 88847483 88847483 + Missense_Mutation SNP G G C TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr7:88847483G>C uc011khi.1 + 2 661 c.123G>C c.(121-123)AAG>AAC p.K41N NM_181646 NP_857597 A4D1E1 Z804B_HUMAN zinc finger protein 804B 41 intracellular zinc ion binding ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1) 11 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) TTGCAGAAAAGAAGTCCACAG 0.343 NA HNSCC(36;0.09) 3 33 0 0 0.009096 0 0 AGFG2 3268 broad.mit.edu 37 7 100159952 100159952 + Silent SNP C C T TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr7:100159952C>T uc003uvf.2 + 7 1084 c.948C>T c.(946-948)GAC>GAT p.D316D AGFG2_uc010lgy.2_Missense_Mutation_p.T178M NM_006076 NP_006067 O95081 AGFG2_HUMAN ArfGAP with FG repeats 2 316 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding central_nervous_system(1) 1 GCCTCGCAGACGTGGGCAGCT 0.637 NA 7 31 0 0 0.001984 0 0 GPR22 2845 broad.mit.edu 37 7 107115456 107115456 + Silent SNP G G A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr7:107115456G>A uc003vef.2 + 3 2297 c.951G>A c.(949-951)TTG>TTA p.L317L COG5_uc003vec.2_Intron|COG5_uc003ved.2_Intron|COG5_uc003vee.2_Intron NM_005295 NP_005286 Q99680 GPR22_HUMAN G protein-coupled receptor 22 317 Helical; Name=6; (Potential). integral to plasma membrane G-protein coupled receptor activity ovary(2) 2 TGTCTTTATTGATTATTTCTA 0.373 NA 8 55 0 0 0.004482 0 0 DOCK4 9732 broad.mit.edu 37 7 111629071 111629071 + Missense_Mutation SNP C C G TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr7:111629071C>G uc003vfx.2 - 6 732 c.463G>C c.(463-465)GAA>CAA p.E155Q DOCK4_uc003vfy.2_Missense_Mutation_p.E155Q|DOCK4_uc003vga.1_5'UTR|DOCK4_uc010ljt.1_Missense_Mutation_p.E155Q|DOCK4_uc003vgb.1_Missense_Mutation_p.E79Q NM_014705 NP_055520 Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 155 cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(1;0.0441) AATACTCACTCATTGCCCCAG 0.567 NA 4 7 0 0 0.009096 0 0 AKR1D1 6718 broad.mit.edu 37 7 137761344 137761344 + Nonsense_Mutation SNP C C G TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr7:137761344C>G uc003vtz.2 + 1 149 c.80C>G c.(79-81)TCA>TGA p.S27* AKR1D1_uc011kqb.1_Nonsense_Mutation_p.S27*|AKR1D1_uc011kqc.1_Intron|AKR1D1_uc011kqd.1_Intron|AKR1D1_uc011kqe.1_Nonsense_Mutation_p.S27*|AKR1D1_uc011kqf.1_Nonsense_Mutation_p.S27* NM_005989 NP_005980 P51857 AK1D1_HUMAN aldo-keto reductase family 1, member D1 27 androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion cytosol aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding skin(1) 1 GGTACCTACTCAGAACCTAAA 0.398 NA 8 12 0 0 0.004482 0 0 OR2A2 442361 broad.mit.edu 37 7 143807577 143807577 + Missense_Mutation SNP A A C TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr7:143807577A>C uc011ktz.1 + 1 902 c.902A>C c.(901-903)CAC>CCC p.H301P NM_001005480 NP_001005480 Q6IF42 OR2A2_HUMAN olfactory receptor, family 2, subfamily A, 301 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Melanoma(164;0.0783) GGCGCCCTCCACAGAGCACTC 0.463 NA 34 66 0 0 0.013726 0 0 TNKS 8658 broad.mit.edu 37 8 9609136 9609136 + Silent SNP T T G TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr8:9609136T>G uc003wss.2 + 19 2855 c.2850T>G c.(2848-2850)GCT>GCG p.A950A TNKS_uc011kww.1_Silent_p.A713A|TNKS_uc010lrt.1_RNA NM_003747 NP_003738 O95271 TNKS1_HUMAN tankyrase, TRF1-interacting ankyrin-related 950 mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding lung(4)|ovary(2)|kidney(1) 7 COAD - Colon adenocarcinoma(149;0.0467) ATATCAGAGCTTTGCTGATAG 0.393 NA 42 132 0 0 0.01441 0 0 RP1L1 94137 broad.mit.edu 37 8 10467205 10467205 + Missense_Mutation SNP T T G TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr8:10467205T>G uc003wtc.2 - 4 4632 c.4403A>C c.(4402-4404)CAG>CCG p.Q1468P NM_178857 NP_849188 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 1468 intracellular signal transduction ovary(4)|breast(3)|central_nervous_system(1) 8 COAD - Colon adenocarcinoma(149;0.0811) GGAGCCACTCTGCCTCTCGCT 0.662 NA 34 78 0 0 0.017118 0 0 FAM160B2 64760 broad.mit.edu 37 8 21951987 21951987 + Missense_Mutation SNP G G A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr8:21951987G>A uc011kyx.1 + 2 133 c.82G>A c.(82-84)GAG>AAG p.E28K FAM160B2_uc011kyw.1_Missense_Mutation_p.E28K|FAM160B2_uc011kyy.1_RNA NM_022749 NP_073586 Q86V87 F16B2_HUMAN retinoic acid induced 16 28 0 GGCCTTCGTGGAGCACTGGAA 0.672 NA 18 34 0 0 0.012319 0 0 GINS4 84296 broad.mit.edu 37 8 41387758 41387758 + Missense_Mutation SNP G G A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr8:41387758G>A uc003xnx.2 + 2 247 c.37G>A c.(37-39)GAT>AAT p.D13N GINS4_uc003xny.2_Missense_Mutation_p.D13N NM_032336 NP_115712 Q9BRT9 SLD5_HUMAN GINS complex subunit 4 13 DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle cytoplasm|nucleoplasm skin(1) 1 Ovarian(28;0.014)|Colorectal(14;0.0202)|Lung SC(25;0.211) all_lung(54;0.00732)|Lung NSC(58;0.0207)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844) Colorectal(10;0.0014)|OV - Ovarian serous cystadenocarcinoma(14;0.00329)|LUSC - Lung squamous cell carcinoma(45;0.0137)|COAD - Colon adenocarcinoma(11;0.0147) ACAGGACTCTGATGGGGGTAG 0.478 NA 17 52 0 0 0.014323 0 0 CYP7A1 1581 broad.mit.edu 37 8 59409214 59409214 + Missense_Mutation SNP G G A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr8:59409214G>A uc003xtm.3 - 3 920 c.857C>T c.(856-858)TCG>TTG p.S286L NM_000780 NP_000771 P22680 CP7A1_HUMAN cytochrome P450, family 7, subfamily A, 286 bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding ovary(1) 1 all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554) GTTTGCTTGCGATGCCCAGAG 0.423 NA Neonatal_Giant_Cell_Hepatitis 39 97 0 0 0.005524 0 0 ZFPM2 23414 broad.mit.edu 37 8 106431460 106431460 + Missense_Mutation SNP G G C TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr8:106431460G>C uc003ymd.2 + 2 152 c.129G>C c.(127-129)GAG>GAC p.E43D NM_012082 NP_036214 Q8WW38 FOG2_HUMAN zinc finger protein, multitype 2 43 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding ovary(4)|large_intestine(1) 5 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) TTCCATTGGAGGAAAGCTTTT 0.408 NA 14 45 0 0 0.016723 0 0 KCNV1 27012 broad.mit.edu 37 8 110984680 110984680 + Silent SNP G G A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr8:110984680G>A uc003ynr.3 - 2 1140 c.798C>T c.(796-798)GAC>GAT p.D266D KCNV1_uc010mcw.2_Silent_p.D266D NM_014379 NP_055194 Q6PIU1 KCNV1_HUMAN potassium channel, subfamily V, member 1 266 Cytoplasmic (Potential). voltage-gated potassium channel complex ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity lung(1)|kidney(1) 2 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;5.35e-13) AGCGACACCTGTCCCGCACAC 0.532 NA 9 37 0 0 0.004482 0 0 TRPS1 7227 broad.mit.edu 37 8 116426804 116426804 + Missense_Mutation SNP G G T TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr8:116426804G>T uc003ynz.2 - 6 3752 c.3293C>A c.(3292-3294)CCC>CAC p.P1098H TRPS1_uc011lhy.1_Missense_Mutation_p.P1102H|TRPS1_uc003yny.2_Missense_Mutation_p.P1111H|TRPS1_uc010mcy.2_Missense_Mutation_p.P1098H NM_014112 NP_054831 Q9UHF7 TRPS1_HUMAN zinc finger transcription factor TRPS1 1098 Mediates interaction with RNF4 (By similarity). negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1) 7 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) ATGTACAAAGGGAAGTCCAAA 0.463 NA Langer-Giedion_syndrome 24 43 1.64293e-13 1.99249e-13 0.01892 1 0 ZNF250 58500 broad.mit.edu 37 8 146107103 146107103 + Missense_Mutation SNP G G C TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr8:146107103G>C uc003zeq.3 - 6 1597 c.1480C>G c.(1480-1482)CTG>GTG p.L494V COMMD5_uc010mgf.2_Intron|ZNF250_uc003zer.3_Missense_Mutation_p.L489V|ZNF250_uc010mgg.2_Missense_Mutation_p.L489V NM_021061 NP_066405 P15622 ZN250_HUMAN zinc finger protein 250 isoform a 494 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;0.0654) TGCACAATCAGAGTTGCTTTC 0.557 NSCLC(16;520 556 24096 40084 43446) NA 5 14 0 0 0.014758 0 0 KIAA1432 57589 broad.mit.edu 37 9 5757362 5757362 + Missense_Mutation SNP C C A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr9:5757362C>A uc003zji.2 + 16 1759 c.1666C>A c.(1666-1668)CGC>AGC p.R556S KIAA1432_uc003zjh.2_Missense_Mutation_p.R556S|KIAA1432_uc003zjl.3_Missense_Mutation_p.R519S|KIAA1432_uc003zjj.1_Missense_Mutation_p.R98S NM_020829 NP_065880 Q4ADV7 RIC1_HUMAN connexin 43-interacting protein 150 isoform a 635 integral to membrane 0 Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122) TTCCATGTCACGCTACATTCC 0.423 NA 8 148 5.18039e-06 5.71514e-06 0.00308 1 0 CD72 971 broad.mit.edu 37 9 35611857 35611857 + Missense_Mutation SNP C C A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr9:35611857C>A uc003zxb.2 - 7 1018 c.894G>T c.(892-894)TGG>TGT p.W298C CD72_uc003zxc.1_Missense_Mutation_p.W83C|CD72_uc010mkt.1_Missense_Mutation_p.W83C NM_001782 NP_001773 P21854 CD72_HUMAN CD72 molecule 298 C-type lectin.|Extracellular (Potential). axon guidance|cell adhesion integral to plasma membrane receptor binding|sugar binding|transmembrane receptor activity 0 Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) TGAGGCCAGTCCAATATGAAT 0.433 NA OREG0019172 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 24 5.03518e-11 5.97928e-11 0.007413 1 0 FLJ46321 389763 broad.mit.edu 37 9 84605787 84605787 + Missense_Mutation SNP G G C TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr9:84605787G>C uc004amn.2 + 4 449 c.402G>C c.(400-402)AAG>AAC p.K134N NM_001001670 NP_001001670 Q6ZQQ2 F75D1_HUMAN hypothetical protein LOC389763 134 integral to membrane 0 GGGTGTGTAAGAGAGCAACTG 0.552 NA 12 15 0 0 0.010729 0 0 NDUFA8 4702 broad.mit.edu 37 9 124906576 124906576 + Nonsense_Mutation SNP C C A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr9:124906576C>A uc004blv.2 - 4 605 c.463G>T c.(463-465)GAG>TAG p.E155* NM_014222 NP_055037 P51970 NDUA8_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha 155 mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial intermembrane space|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity breast(1) 1 NADH(DB00157) AGATCTCCCTCGATCTCAGGG 0.542 NA 17 14 9.16793e-09 1.05927e-08 0.00499 1 0 FCN2 2220 broad.mit.edu 37 9 137777710 137777710 + Missense_Mutation SNP G G T TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr9:137777710G>T uc004cfg.1 + 6 536 c.526G>T c.(526-528)GGG>TGG p.G176W FCN2_uc004cfh.1_Missense_Mutation_p.G138W NM_004108 NP_004099 Q15485 FCN2_HUMAN ficolin 2 isoform a precursor 176 Fibrinogen C-terminal. complement activation, lectin pathway|opsonization|signal transduction collagen|extracellular space antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding large_intestine(1) 1 Myeloproliferative disorder(178;0.0333) OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07) GTTCTGGCTGGGGAATGACAA 0.672 NA 10 19 2.27111e-07 2.57192e-07 0.013537 1 0 CD99 4267 broad.mit.edu 37 X 2635666 2635666 + Missense_Mutation SNP A A T TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chrX:2635666A>T uc004cqm.2 + 3 295 c.121A>T c.(121-123)ACT>TCT p.T41S CD99_uc010nda.2_Intron|CD99_uc004cqn.2_RNA|CD99_uc004cqo.2_Missense_Mutation_p.T41S NM_002414 NP_002405 P14209 CD99_HUMAN CD99 antigen isoform a precursor 41 Extracellular (Potential). cell adhesion cytoplasm|integral to plasma membrane skin(1) 1 CAAGAAACCCACTGCAATCCC 0.408 NA 7 32 0 0 0.004482 0 0 MAGEE1 57692 broad.mit.edu 37 X 75648900 75648900 + Missense_Mutation SNP G G A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chrX:75648900G>A uc004ecm.1 + 1 784 c.577G>A c.(577-579)GAT>AAT p.D193N NM_020932 NP_065983 Q9HCI5 MAGE1_HUMAN melanoma antigen family E, 1 193 Pro-rich. dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane breast(3)|ovary(1)|pancreas(1)|skin(1) 6 GCCCACCCCTGATGAGGGACC 0.697 NA 5 10 0 0 0.014758 0 0 PRRG3 79057 broad.mit.edu 37 X 150869297 150869297 + Missense_Mutation SNP G G C rs139807152 byFrequency TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chrX:150869297G>C uc004few.1 + 4 878 c.488G>C c.(487-489)CGG>CCG p.R163P NM_024082 NP_076987 Q9BZD7 TMG3_HUMAN proline rich Gla (G-carboxyglutamic acid) 3 163 Cytoplasmic (Potential). extracellular region|integral to membrane calcium ion binding ovary(3)|skin(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) GGGCCCAGTCGGGGGGGCAGG 0.672 NA 18 14 0 0 0.012319 0 0 LOC387646 387646 broad.mit.edu 37 10 27539361 27539361 + Frame_Shift_Del DEL G G - TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr10:27539361delG uc001its.2 - 1 1875 c.32delC c.(31-33)CCAfs p.P11fs NR_003525 SubName: Full=cDNA FLJ44924 fis, clone BRAMY3014555; 0 AGGCTCAGTTGGGGCCTCCTC 0.582 NA 14 33 --- --- --- --- NA NA NA NA NA C16orf11 146325 broad.mit.edu 37 16 613941 613942 + Frame_Shift_Ins INS - - C TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr16:613941_613942insC uc002chk.2 + 2 926_927 c.647_648insC c.(646-648)AGCfs p.S216fs NM_145270 NP_660313 P0CG20 CP011_HUMAN hypothetical protein LOC146325 216 Pro-rich. central_nervous_system(1) 1 TACCCGCTCAGCCCCGGCCTCT 0.718 NA 2 4 --- --- --- --- NA NA NA NA NA MAP2K3 5606 broad.mit.edu 37 17 21204251 21204251 + Frame_Shift_Del DEL G G - TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr17:21204251delG uc002gys.2 + 5 610 c.345delG c.(343-345)ATGfs p.M115fs MAP2K3_uc002gyt.2_Frame_Shift_Del_p.M86fs|MAP2K3_uc002gyu.2_Frame_Shift_Del_p.M86fs NM_145109 NP_659731 P46734 MP2K3_HUMAN mitogen-activated protein kinase kinase 3 115 Protein kinase. activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|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|nucleoplasm ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity 0 COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553) ACATCAACATGCGCACGGTCG 0.587 NA 10 119 --- --- --- --- NA NA NA NA NA LIF 3976 broad.mit.edu 37 22 30640019 30640019 + Frame_Shift_Del DEL T T - TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr22:30640019delT uc003agz.2 - 3 342 c.230delA c.(229-231)AACfs p.N77fs LIF_uc011aks.1_Frame_Shift_Del_p.Q17fs|uc003aha.2_5'Flank NM_002309 NP_002300 P15018 LIF_HUMAN leukemia inhibitory factor (cholinergic 77 immune response|leukemia inhibitory factor signaling pathway|negative regulation of hormone secretion|positive regulation of cell proliferation|positive regulation of macrophage differentiation|positive regulation of MAPKKK cascade|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of metanephric nephron tubule epithelial cell differentiation cytokine activity|growth factor activity|leukemia inhibitory factor receptor binding 0 Epithelial(10;0.171) CTTGTCCAGGTTGTTGGGGAA 0.388 NA 8 30 --- --- --- --- NA NA NA NA NA DLC1 10395 broad.mit.edu 37 8 12958176 12958177 + Frame_Shift_Ins INS - - A TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr8:12958176_12958177insA uc003wwm.2 - 9 2113_2114 c.1669_1670insT c.(1669-1671)TCTfs p.S557fs DLC1_uc003wwk.1_Frame_Shift_Ins_p.S120fs|DLC1_uc003wwl.1_Frame_Shift_Ins_p.S154fs|DLC1_uc011kxx.1_Frame_Shift_Ins_p.S46fs NM_182643 NP_872584 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 isoform 1 557 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 TTGTTTTGGAGAAAAGACATCA 0.589 NA 15 45 --- --- --- --- NA NA NA NA NA NRG1 3084 broad.mit.edu 37 8 32616840 32616841 + Frame_Shift_Ins INS - - G TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr8:32616840_32616841insG uc003xiv.2 + 10 1464_1465 c.947_948insG c.(946-948)AACfs p.N316fs NRG1_uc011lbf.1_Frame_Shift_Ins_p.N313fs|NRG1_uc010lvo.2_Frame_Shift_Ins_p.N313fs|NRG1_uc003xiu.2_Frame_Shift_Ins_p.N321fs|NRG1_uc003xiw.2_Frame_Shift_Ins_p.N313fs|NRG1_uc003xit.2_Frame_Shift_Ins_p.N316fs|NRG1_uc010lvr.2_Frame_Shift_Ins_p.N58fs|NRG1_uc010lvs.2_Frame_Shift_Ins_p.N58fs|NRG1_uc010lvp.2_Frame_Shift_Ins_p.N270fs|NRG1_uc010lvq.2_Frame_Shift_Ins_p.N253fs|NRG1_uc011lbg.1_Frame_Shift_Ins_p.N162fs|NRG1_uc011lbh.1_Frame_Shift_Ins_p.N159fs|NRG1_uc003xja.2_Frame_Shift_Ins_p.N127fs NM_013964 NP_039258 Q02297 NRG1_HUMAN neuregulin 1 isoform HRG-alpha 316 Cytoplasmic (Potential). activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing|wound healing apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane cytokine activity|ErbB-3 class receptor binding|growth factor activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity 0 Breast(100;0.203) KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943) GTATCTAAAAACGTCATCTCCA 0.396 NA 20 75 --- --- --- --- NA NA NA NA NA KRAS 3845 broad.mit.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C A rs121913530 TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08 9c9f5938-1cd9-47f6-adb1-f0293a8a9eca g.chr12:25398285C>A uc001rgp.1 - 2 215 c.34G>T c.(34-36)GGT>TGT p.G12C KRAS_uc001rgq.1_Missense_Mutation_p.G12C|KRAS_uc001rgr.2_RNA NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12G(6)|p.G12N(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1) large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1) 21052 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) CCTACGCCACCAGCTCCAACT 0.348 Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869) G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12C(CALU1_LUNG)|G12C(NCIH2030_LUNG)|G12C(LU99_LUNG)|G12C(NCIH1792_LUNG)|G12R(KP2_PANCREAS)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(NCIH2122_LUNG)|G12C(NCIH358_LUNG)|G12R(PSN1_PANCREAS)|G12C(KYSE410_OESOPHAGUS)|G12S(A549_LUNG)|G12R(HUPT3_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12C(HCC44_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(SW1463_LARGE_INTESTINE)|G12C(NCIH23_LUNG)|G12C(LU65_LUNG)|G12C(NCIH1373_LUNG)|G12C(MIAPACA2_PANCREAS)|G12R(HS274T_BREAST)|G12S(LS123_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(OV56_OVARY)|G12C(IALM_LUNG) 119 Mis pancreatic|colorectal|lung|thyroid|AML|others Cardiofaciocutaneous_syndrome|Noonan_syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 5 14 NA NA NA NA 0.184627 0.185713 0.014758 1 1