Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox isArtifactMode oxoGCut PRAMEF2 65122 broad.mit.edu 37 1 12920037 12920037 + Silent SNP C C T TCGA-CR-7376-01A-11D-2129-08 TCGA-CR-7376-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a6b11f68-79da-4542-818d-f404116c0bf8 47cf1857-e93d-470f-abe2-bebe102fb2c1 g.chr1:12920037C>T uc001aum.1 + 3 864 c.777C>T c.(775-777)TTC>TTT p.F259F NM_023014 NP_075390 O60811 PRAM2_HUMAN PRAME family member 2 259 0 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TCACCAGATTCACCTCTGTGT 0.458 NA 10 125 0 0 0 0 MPL 4352 broad.mit.edu 37 1 43812539 43812539 + Silent SNP G G A TCGA-CR-7376-01A-11D-2129-08 TCGA-CR-7376-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a6b11f68-79da-4542-818d-f404116c0bf8 47cf1857-e93d-470f-abe2-bebe102fb2c1 g.chr1:43812539G>A uc001ciw.2 + 8 1287 c.1242G>A c.(1240-1242)TCG>TCA p.S414S MPL_uc001civ.2_Silent_p.S414S|MPL_uc009vwr.2_Silent_p.S407S NM_005373 NP_005364 P40238 TPOR_HUMAN myeloproliferative leukemia virus oncogene 414 Fibronectin type-III 2.|Extracellular (Potential). cell proliferation|platelet activation integral to plasma membrane cytokine receptor activity haematopoietic_and_lymphoid_tissue(361)|upper_aerodigestive_tract(1)|pancreas(1) 363 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) AGCACCCATCGTCCTGGGCAG 0.567 NA Mis MPD MPD congenital amegakaryocytic thrombocytopenia 10 69 0 0 0 0 KIAA0494 9813 broad.mit.edu 37 1 47148983 47148983 + Missense_Mutation SNP G G C TCGA-CR-7376-01A-11D-2129-08 TCGA-CR-7376-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a6b11f68-79da-4542-818d-f404116c0bf8 47cf1857-e93d-470f-abe2-bebe102fb2c1 g.chr1:47148983G>C uc001cqk.3 - 10 2278 c.1301C>G c.(1300-1302)TCT>TGT p.S434C KIAA0494_uc010omh.1_Missense_Mutation_p.S370C|KIAA0494_uc010omj.1_Missense_Mutation_p.S226C NM_014774 NP_055589 O75071 K0494_HUMAN hypothetical protein LOC9813 434 EF-hand 1. calcium ion binding 0 Acute lymphoblastic leukemia(166;0.155) TTCAGTGCTAGAAACTCCTGG 0.358 NA 9 126 0 0 0 0 ARMC4 55130 broad.mit.edu 37 10 28228887 28228887 + Missense_Mutation SNP A A G TCGA-CR-7376-01A-11D-2129-08 TCGA-CR-7376-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a6b11f68-79da-4542-818d-f404116c0bf8 47cf1857-e93d-470f-abe2-bebe102fb2c1 g.chr10:28228887A>G uc009xky.2 - 14 2134 c.2036T>C c.(2035-2037)GTC>GCC p.V679A ARMC4_uc010qds.1_Missense_Mutation_p.V204A|ARMC4_uc010qdt.1_Missense_Mutation_p.V371A|ARMC4_uc001itz.2_Missense_Mutation_p.V679A NM_018076 NP_060546 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 679 ARM 4.|HEAT. binding ovary(4)|skin(2) 6 TAGGTTCTTGACAAGGTTTTC 0.433 NA 5 58 0 0 0 0 MTPAP 55149 broad.mit.edu 37 10 30630542 30630542 + Missense_Mutation SNP C C G TCGA-CR-7376-01A-11D-2129-08 TCGA-CR-7376-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a6b11f68-79da-4542-818d-f404116c0bf8 47cf1857-e93d-470f-abe2-bebe102fb2c1 g.chr10:30630542C>G uc001iva.3 - 2 248 c.185G>C c.(184-186)AGA>ACA p.R62T MTPAP_uc001ivb.3_Missense_Mutation_p.R192T|MTPAP_uc001ivc.2_Missense_Mutation_p.R62T NM_018109 NP_060579 Q9NVV4 PAPD1_HUMAN PAP associated domain containing 1 precursor 62 cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent mitochondrion ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding ovary(1) 1 CTCAGAGAATCTCCTTTTGGG 0.348 NA 6 82 0 0 0 0 C10orf11 83938 broad.mit.edu 37 10 77818491 77818491 + Nonsense_Mutation SNP C C T TCGA-CR-7376-01A-11D-2129-08 TCGA-CR-7376-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a6b11f68-79da-4542-818d-f404116c0bf8 47cf1857-e93d-470f-abe2-bebe102fb2c1 g.chr10:77818491C>T uc001jxi.2 + 4 597 c.382C>T c.(382-384)CGA>TGA p.R128* NM_032024 NP_114413 Q9H2I8 CJ011_HUMAN chromosome 10 open reading frame 11 128 LRRCT. 0 Prostate(51;0.0095)|all_epithelial(25;0.0221) CAGACAAGAACGAGAGGAGGC 0.478 NA 13 106 0 0 0 0 MUC6 4588 broad.mit.edu 37 11 1018367 1018367 + Silent SNP T T A TCGA-CR-7376-01A-11D-2129-08 TCGA-CR-7376-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a6b11f68-79da-4542-818d-f404116c0bf8 47cf1857-e93d-470f-abe2-bebe102fb2c1 g.chr11:1018367T>A uc001lsw.2 - 31 4485 c.4434A>T c.(4432-4434)TCA>TCT p.S1478S NM_005961 NP_005952 Q6W4X9 MUC6_HUMAN mucin 6, gastric 1478 Pro-rich.|Thr-rich. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent ovary(1) 1 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) CTGTTGGCGCTGAGTGGTTGG 0.587 NA 20 206 0 0 0 0 MOB2 81532 broad.mit.edu 37 11 1501645 1501645 + Nonsense_Mutation SNP G G A TCGA-CR-7376-01A-11D-2129-08 TCGA-CR-7376-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a6b11f68-79da-4542-818d-f404116c0bf8 47cf1857-e93d-470f-abe2-bebe102fb2c1 g.chr11:1501645G>A uc010qwz.1 - 3 533 c.343C>T c.(343-345)CAG>TAG p.Q115* MOB2_uc001lto.1_5'UTR|MOB2_uc001ltp.1_5'UTR|MOB2_uc001ltq.1_Nonsense_Mutation_p.Q78*|MOB2_uc010qwy.1_5'UTR NM_053005 NP_443731 Q70IA6 MOB2_HUMAN HCCA2 protein 84 nucleus|perinuclear region of cytoplasm metal ion binding 0 GCCATCGTCTGACACGTCTCT 0.587 NA 10 82 0 0 0 0 CSRP3 8048 broad.mit.edu 37 11 19213969 19213969 + Missense_Mutation SNP T T G TCGA-CR-7376-01A-11D-2129-08 TCGA-CR-7376-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a6b11f68-79da-4542-818d-f404116c0bf8 47cf1857-e93d-470f-abe2-bebe102fb2c1 g.chr11:19213969T>G uc001mpk.2 - 2 144 c.27A>C c.(25-27)AAA>AAC p.K9N NM_003476 NP_003467 P50461 CSRP3_HUMAN cysteine and glycine-rich protein 3 9 cell differentiation|skeletal muscle tissue development cytoskeleton|nucleus protein binding|zinc ion binding 0 AGGCTCCACATTTTGCGCCTC 0.498 NA 3 45 0 0 0 0 C11orf59 55004 broad.mit.edu 37 11 71808908 71808908 + Missense_Mutation SNP T T A TCGA-CR-7376-01A-11D-2129-08 TCGA-CR-7376-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a6b11f68-79da-4542-818d-f404116c0bf8 47cf1857-e93d-470f-abe2-bebe102fb2c1 g.chr11:71808908T>A uc001ort.2 - 5 498 c.446A>T c.(445-447)GAC>GTC p.D149V LRTOMT_uc010rqv.1_Intron|LRTOMT_uc010rqw.1_Intron|LRTOMT_uc001ors.3_Intron|C11orf59_uc009ytb.2_Silent_p.G73G|C11orf59_uc001oru.1_3'UTR NM_017907 NP_060377 Q6IAA8 LTOR1_HUMAN hypothetical protein LOC55004 149 Interaction with LAMTOR2 and LAMTOR3 (By similarity). cell growth|cellular protein localization|cellular response to amino acid stimulus|cholesterol homeostasis|endosome localization|endosome organization|lysosome localization|lysosome organization|positive regulation of MAPKKK cascade|positive regulation of TOR signaling cascade|regulation of cholesterol efflux|regulation of cholesterol esterification|regulation of cholesterol import|regulation of receptor recycling Golgi apparatus|lysosomal membrane|plasma membrane|Ragulator complex protein binding 0 CTCTTTTGCGTCCACACGGAT 0.463 NA 18 238 0 0 0 0 TMEM25 84866 broad.mit.edu 37 11 118404820 118404820 + Missense_Mutation SNP A A T TCGA-CR-7376-01A-11D-2129-08 TCGA-CR-7376-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a6b11f68-79da-4542-818d-f404116c0bf8 47cf1857-e93d-470f-abe2-bebe102fb2c1 g.chr11:118404820A>T uc010rye.1 + 7 1087 c.913A>T c.(913-915)AAT>TAT p.N305Y TMEM25_uc001ptk.3_Missense_Mutation_p.N305Y|TMEM25_uc001pth.2_Missense_Mutation_p.N261Y|TMEM25_uc009zad.2_Missense_Mutation_p.N261Y|TMEM25_uc001pti.2_Missense_Mutation_p.N157Y|TMEM25_uc010ryf.1_Missense_Mutation_p.N208Y|TMEM25_uc001ptl.2_Missense_Mutation_p.N305Y|TMEM25_uc001ptm.2_Missense_Mutation_p.N261Y|TMEM25_uc001ptn.2_Missense_Mutation_p.N261Y NM_032780 NP_116169 Q86YD3 TMM25_HUMAN transmembrane protein 25 isoform 1 305 Cytoplasmic (Potential). extracellular region|integral to membrane|plasma membrane 0 all_hematologic(175;0.0349) Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735) BRCA - Breast invasive adenocarcinoma(274;3.04e-05) CCTTCAGCTCAATGACCTCAC 0.517 NA 7 46 0 0 0 0 DCP1B 196513 broad.mit.edu 37 12 2107117 2107117 + Missense_Mutation SNP A A T TCGA-CR-7376-01A-11D-2129-08 TCGA-CR-7376-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a6b11f68-79da-4542-818d-f404116c0bf8 47cf1857-e93d-470f-abe2-bebe102fb2c1 g.chr12:2107117A>T uc001qjx.1 - 2 255 c.175T>A c.(175-177)TTA>ATA p.L59I DCP1B_uc010sdy.1_5'UTR|DCP1B_uc010sdz.1_Missense_Mutation_p.L59I NM_152640 NP_689853 Q8IZD4 DCP1B_HUMAN decapping enzyme Dcp1b 59 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytosol|nucleus hydrolase activity|protein binding skin(1) 1 OV - Ovarian serous cystadenocarcinoma(31;0.00193) TAAACAAATAAGGTTCCTTCC 0.308 NA 7 81 0 0 0 0 A2M 2 broad.mit.edu 37 12 9251236 9251236 + Silent SNP G G A TCGA-CR-7376-01A-11D-2129-08 TCGA-CR-7376-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a6b11f68-79da-4542-818d-f404116c0bf8 47cf1857-e93d-470f-abe2-bebe102fb2c1 g.chr12:9251236G>A uc001qvk.1 - 15 1931 c.1818C>T c.(1816-1818)CTC>CTT p.L606L A2M_uc009zgk.1_Silent_p.L456L NM_000014 NP_000005 P01023 A2MG_HUMAN alpha-2-macroglobulin precursor 606 blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding central_nervous_system(4)|skin(1) 5 Bacitracin(DB00626)|Becaplermin(DB00102) CAGGCTTCATGAGCAGCACGC 0.617 NA 3 17 0 0 0 0 CAPRIN2 65981 broad.mit.edu 37 12 30869532 30869532 + Missense_Mutation SNP G G C TCGA-CR-7376-01A-11D-2129-08 TCGA-CR-7376-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a6b11f68-79da-4542-818d-f404116c0bf8 47cf1857-e93d-470f-abe2-bebe102fb2c1 g.chr12:30869532G>C uc001rji.1 - 14 3125 c.2374C>G c.(2374-2376)CAA>GAA p.Q792E CAPRIN2_uc001rjf.1_Missense_Mutation_p.Q589E|CAPRIN2_uc001rjg.1_Missense_Mutation_p.Q459E|CAPRIN2_uc001rjh.1_Missense_Mutation_p.Q743E|CAPRIN2_uc001rjj.1_Missense_Mutation_p.Q459E|CAPRIN2_uc001rjk.3_Missense_Mutation_p.Q792E|CAPRIN2_uc001rjl.3_Missense_Mutation_p.Q757E|CAPRIN2_uc001rjm.1_Missense_Mutation_p.Q424E NM_001002259 NP_001002259 Q6IMN6 CAPR2_HUMAN C1q domain containing 1 isoform 1 792 negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter mitochondrion|receptor complex receptor binding|RNA binding ovary(1)|central_nervous_system(1) 2 all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) GTAAAACTTTGATTGTAGCCA 0.408 NA 14 190 0 0 0 0 ANO6 196527 broad.mit.edu 37 12 45782051 45782051 + Missense_Mutation SNP C C G TCGA-CR-7376-01A-11D-2129-08 TCGA-CR-7376-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a6b11f68-79da-4542-818d-f404116c0bf8 47cf1857-e93d-470f-abe2-bebe102fb2c1 g.chr12:45782051C>G uc001roo.2 + 11 1608 c.1273C>G c.(1273-1275)CGA>GGA p.R425G ANO6_uc010sld.1_Missense_Mutation_p.R425G|ANO6_uc010sle.1_Missense_Mutation_p.R425G|ANO6_uc010slf.1_Missense_Mutation_p.R446G|ANO6_uc010slg.1_Missense_Mutation_p.R407G NM_001025356 NP_001020527 Q4KMQ2 ANO6_HUMAN anoctamin 6 isoform a 425 Cytoplasmic (Potential). activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet chloride channel complex|plasma membrane chloride channel activity ovary(1)|kidney(1) 2 ATACGAAGCACGATGTACTCA 0.393 NA 10 120 0 0 0 0 CRY1 1407 broad.mit.edu 37 12 107393445 107393445 + Missense_Mutation SNP C C G TCGA-CR-7376-01A-11D-2129-08 TCGA-CR-7376-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a6b11f68-79da-4542-818d-f404116c0bf8 47cf1857-e93d-470f-abe2-bebe102fb2c1 g.chr12:107393445C>G uc001tmi.3 - 7 1880 c.1021G>C c.(1021-1023)GAT>CAT p.D341H NM_004075 NP_004066 Q16526 CRY1_HUMAN cryptochrome 1 (photolyase-like) 341 FAD-binding. DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding ovary(3) 3 ATGATGGCATCAATCCATGGA 0.493 NA 4 61 0 0 0 0 RNF34 80196 broad.mit.edu 37 12 121867998 121867998 + Missense_Mutation SNP G G T TCGA-CR-7376-01A-11D-2129-08 TCGA-CR-7376-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a6b11f68-79da-4542-818d-f404116c0bf8 47cf1857-e93d-470f-abe2-bebe102fb2c1 g.chr12:121867998G>T uc001uam.1 + 7 1339 c.1225G>T c.(1225-1227)GTC>TTC p.V409F KDM2B_uc001uaq.2_Intron|KDM2B_uc010szy.1_3'UTR|KDM2B_uc001uar.2_Intron|KDM2B_uc001uas.2_Intron|KDM2B_uc001uat.2_3'UTR|KDM2B_uc001uau.2_3'UTR|KDM2B_uc001uao.2_Intron|KDM2B_uc010szx.1_3'UTR|KDM2B_uc001uap.2_Intron NM_025126 NP_079402 Q969K3 RNF34_HUMAN ring finger protein 34 isoform 2 Error:Variant_position_missing_in_Q969K3_after_alignment apoptosis endomembrane system|membrane|nuclear speck ligase activity|zinc ion binding 0 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000432)|Epithelial(86;0.00233) GTGGTCTGTTGTCCCACGTTC 0.473 NA 8 79 0.000157383 0.00017395 1 0 NBEA 26960 broad.mit.edu 37 13 36229804 36229804 + Silent SNP C C T TCGA-CR-7376-01A-11D-2129-08 TCGA-CR-7376-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a6b11f68-79da-4542-818d-f404116c0bf8 47cf1857-e93d-470f-abe2-bebe102fb2c1 g.chr13:36229804C>T uc001uvb.2 + 54 8423 c.8217C>T c.(8215-8217)ATC>ATT p.I2739I NBEA_uc010abi.2_Silent_p.I1395I|NBEA_uc010tef.1_Silent_p.I532I|NBEA_uc001uvd.2_Silent_p.I317I NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN neurobeachin 2739 WD 2. cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding ovary(9)|large_intestine(2) 11 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) ACTGCTACATCGTGTCCGGAT 0.512 NA 5 126 0 0 0 0 HEATR5A 25938 broad.mit.edu 37 14 31774252 31774252 + Missense_Mutation SNP G G A TCGA-CR-7376-01A-11D-2129-08 TCGA-CR-7376-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a6b11f68-79da-4542-818d-f404116c0bf8 47cf1857-e93d-470f-abe2-bebe102fb2c1 g.chr14:31774252G>A uc001wrf.3 - 26 4296 c.4219C>T c.(4219-4221)CTC>TTC p.L1407F HEATR5A_uc010ami.2_Missense_Mutation_p.L1305F NM_015473 NP_056288 Q86XA9 HTR5A_HUMAN HEAT repeat containing 5A 1694 binding ovary(1) 1 Hepatocellular(127;0.0877)|Breast(36;0.137) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.0059) AATTCTGGGAGCTGTCTAACT 0.448 NA 16 108 0 0 0 0 CCDC88C 440193 broad.mit.edu 37 14 91780018 91780018 + Missense_Mutation SNP C C G TCGA-CR-7376-01A-11D-2129-08 TCGA-CR-7376-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a6b11f68-79da-4542-818d-f404116c0bf8 47cf1857-e93d-470f-abe2-bebe102fb2c1 g.chr14:91780018C>G uc010aty.2 - 15 2241 c.2142G>C c.(2140-2142)GAG>GAC p.E714D NM_001080414 NP_001073883 Q9P219 DAPLE_HUMAN DVL-binding protein DAPLE 714 Potential. microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway cytoplasm|insoluble fraction microtubule binding|PDZ domain binding|protein self-association ovary(3) 3 all_cancers(154;0.0468) AGCGCATGGTCTCCACCAGCC 0.602 NA 6 75 0 0 0 0 VRK1 7443 broad.mit.edu 37 14 97321591 97321591 + Missense_Mutation SNP C C T rs144600646 by1000genomes TCGA-CR-7376-01A-11D-2129-08 TCGA-CR-7376-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a6b11f68-79da-4542-818d-f404116c0bf8 47cf1857-e93d-470f-abe2-bebe102fb2c1 g.chr14:97321591C>T uc001yft.2 + 8 713 c.607C>T c.(607-609)CGG>TGG p.R203W NM_003384 NP_003375 Q99986 VRK1_HUMAN vaccinia related kinase 1 203 Protein kinase. cytoplasm|nucleolus ATP binding|protein binding|protein serine/threonine kinase activity large_intestine(1)|stomach(1) 2 Melanoma(154;0.155) COAD - Colon adenocarcinoma(157;0.234) CCTTGCTTATCGGTACTGCCC 0.408 NA 7 103 0 0 0 0 RNF40 9810 broad.mit.edu 37 16 30777510 30777510 + Missense_Mutation SNP G G C TCGA-CR-7376-01A-11D-2129-08 TCGA-CR-7376-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a6b11f68-79da-4542-818d-f404116c0bf8 47cf1857-e93d-470f-abe2-bebe102fb2c1 g.chr16:30777510G>C uc002dzq.2 + 9 1143 c.1020G>C c.(1018-1020)GAG>GAC p.E340D RNF40_uc010caa.2_Missense_Mutation_p.E340D|RNF40_uc010cab.2_Intron|RNF40_uc010vfa.1_Intron|RNF40_uc002dzr.2_Missense_Mutation_p.E340D|RNF40_uc010vfb.1_Intron|RNF40_uc010vfc.1_5'Flank NM_014771 NP_055586 O75150 BRE1B_HUMAN ring finger protein 40 340 Potential. histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process nucleus|synaptosome|ubiquitin ligase complex protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(1) 1 Colorectal(24;0.198) CAGAGTTAGAGGAAAACCAGG 0.592 NA 5 92 0 0 0 0 HPR 3250 broad.mit.edu 37 16 72108189 72108189 + Missense_Mutation SNP G G A TCGA-CR-7376-01A-11D-2129-08 TCGA-CR-7376-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a6b11f68-79da-4542-818d-f404116c0bf8 47cf1857-e93d-470f-abe2-bebe102fb2c1 g.chr16:72108189G>A uc002fby.2 + 3 128 c.98G>A c.(97-99)CGC>CAC p.R33H TXNL4B_uc010cgl.2_Intron NM_020995 NP_066275 P00739 HPTR_HUMAN haptoglobin-related protein precursor 33 proteolysis spherical high-density lipoprotein particle hemoglobin binding|serine-type endopeptidase activity central_nervous_system(1) 1 Ovarian(137;0.125) GCAGATGACCGCTTCCCGAAG 0.483 NA 12 75 0 0 0 0 DPEP1 1800 broad.mit.edu 37 16 89696859 89696859 + Missense_Mutation SNP G G A TCGA-CR-7376-01A-11D-2129-08 TCGA-CR-7376-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a6b11f68-79da-4542-818d-f404116c0bf8 47cf1857-e93d-470f-abe2-bebe102fb2c1 g.chr16:89696859G>A uc010cin.2 + 2 244 c.41G>A c.(40-42)TGC>TAC p.C14Y DPEP1_uc002fnr.3_Missense_Mutation_p.C14Y|DPEP1_uc002fns.3_Missense_Mutation_p.C14Y NM_001128141 NP_001121613 P16444 DPEP1_HUMAN dipeptidase 1 precursor 14 proteolysis anchored to membrane|apical plasma membrane|microvillus membrane dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding large_intestine(1) 1 all_lung(18;0.0054)|all_hematologic(23;0.094) BRCA - Breast invasive adenocarcinoma(80;0.0258) Cilastatin(DB01597) GTGGCCGTCTGCACTGCAGAC 0.632 NA 10 72 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7577098 7577098 + Missense_Mutation SNP T T G TCGA-CR-7376-01A-11D-2129-08 TCGA-CR-7376-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a6b11f68-79da-4542-818d-f404116c0bf8 47cf1857-e93d-470f-abe2-bebe102fb2c1 g.chr17:7577098T>G uc002gim.2 - 8 1034 c.840A>C c.(838-840)AGA>AGC p.R280S TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R280S|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R148S|TP53_uc010cng.1_Missense_Mutation_p.R148S|TP53_uc002gii.1_Missense_Mutation_p.R148S|TP53_uc010cnh.1_Missense_Mutation_p.R280S|TP53_uc010cni.1_Missense_Mutation_p.R280S|TP53_uc002gij.2_Missense_Mutation_p.R280S NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 280 Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> T (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a sporadic cancer; somatic mutation).|R -> I (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R280T(53)|p.R280K(41)|p.R280G(18)|p.R280S(13)|p.R280I(12)|p.R280*(8)|p.R280fs*65(7)|p.0?(7)|p.R280R(3)|p.?(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.A276fs*64(1)|p.G279_R280delGR(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.G279fs*59(1)|p.F270_D281del12(1)|p.C275_R283delCACPGRDRR(1)|p.L265_K305del41(1)|p.D281fs*24(1)|p.V272_K292del21(1)|p.C275fs*20(1)|p.D281_R282delDR(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TGCGCCGGTCTCTCCCAGGAC 0.542 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 5 36 0 0 0 0 MYH2 4620 broad.mit.edu 37 17 10427914 10427914 + Missense_Mutation SNP G G A TCGA-CR-7376-01A-11D-2129-08 TCGA-CR-7376-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a6b11f68-79da-4542-818d-f404116c0bf8 47cf1857-e93d-470f-abe2-bebe102fb2c1 g.chr17:10427914G>A uc010coi.2 - 35 5172 c.5044C>T c.(5044-5046)CGC>TGC p.R1682C uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.R1682C|MYH2_uc010coj.2_Intron NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 1682 Potential. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1) 14 TTGGCTCTGCGCTCCACCATG 0.567 NA 6 58 0 0 0 0 COL1A1 1277 broad.mit.edu 37 17 48273002 48273002 + Nonsense_Mutation SNP G G A rs72645366 TCGA-CR-7376-01A-11D-2129-08 TCGA-CR-7376-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a6b11f68-79da-4542-818d-f404116c0bf8 47cf1857-e93d-470f-abe2-bebe102fb2c1 g.chr17:48273002G>A uc002iqm.2 - 17 1207 c.1081C>T c.(1081-1083)CGA>TGA p.R361* NM_000088 NP_000079 P02452 CO1A1_HUMAN alpha 1 type I collagen preproprotein 361 Triple-helical region. axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception collagen type I|extracellular space|plasma membrane identical protein binding|platelet-derived growth factor binding COL1A1/PDGFB(372) soft_tissue(372)|central_nervous_system(7)|skin(1)|breast(1)|pancreas(1) 382 Collagenase(DB00048)|Palifermin(DB00039) TCAGAGCCTCGGGGCCCTTGG 0.637 NA T PDGFB|USP6 dermatofibrosarcoma protuberans|aneurysmal bone cyst Osteogenesis imperfecta OREG0024559 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 39 0 0 0 0 ASXL3 80816 broad.mit.edu 37 18 31326305 31326305 + Missense_Mutation SNP A A C TCGA-CR-7376-01A-11D-2129-08 TCGA-CR-7376-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a6b11f68-79da-4542-818d-f404116c0bf8 47cf1857-e93d-470f-abe2-bebe102fb2c1 g.chr18:31326305A>C uc010dmg.1 + 12 6548 c.6493A>C c.(6493-6495)AAA>CAA p.K2165Q ASXL3_uc002kxq.2_Missense_Mutation_p.K1872Q NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 2165 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding ovary(2)|pancreas(1) 3 CACGAGTTTCAAAAGGGCAGC 0.468 NA 10 140 0 0 0 0 KIAA1328 57536 broad.mit.edu 37 18 34539358 34539358 + Missense_Mutation SNP C C G TCGA-CR-7376-01A-11D-2129-08 TCGA-CR-7376-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a6b11f68-79da-4542-818d-f404116c0bf8 47cf1857-e93d-470f-abe2-bebe102fb2c1 g.chr18:34539358C>G uc002kzz.2 + 6 558 c.536C>G c.(535-537)TCT>TGT p.S179C KIAA1328_uc002lab.2_Intron|KIAA1328_uc002lac.1_Missense_Mutation_p.S2C|KIAA1328_uc010dnc.1_RNA NM_020776 NP_065827 Q86T90 K1328_HUMAN hypothetical protein LOC57536 179 central_nervous_system(1) 1 COAD - Colon adenocarcinoma(74;0.195) CTCACCATGTCTCTCTCAGAA 0.408 NA 2 16 0 0 0 0 ZNF236 7776 broad.mit.edu 37 18 74580734 74580734 + Missense_Mutation SNP C C T TCGA-CR-7376-01A-11D-2129-08 TCGA-CR-7376-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a6b11f68-79da-4542-818d-f404116c0bf8 47cf1857-e93d-470f-abe2-bebe102fb2c1 g.chr18:74580734C>T uc002lmi.2 + 4 649 c.451C>T c.(451-453)CGG>TGG p.R151W ZNF236_uc002lmj.2_RNA|ZNF236_uc002lmk.1_Missense_Mutation_p.R151W NM_007345 NP_031371 Q9UL36 ZN236_HUMAN zinc finger protein 236 151 cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4) 4 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) GGCTGGAACCCGGCAGCATGC 0.522 NA 7 133 0 0 0 0 HCN2 610 broad.mit.edu 37 19 613894 613894 + Missense_Mutation SNP G G A TCGA-CR-7376-01A-11D-2129-08 TCGA-CR-7376-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a6b11f68-79da-4542-818d-f404116c0bf8 47cf1857-e93d-470f-abe2-bebe102fb2c1 g.chr19:613894G>A uc002lpe.2 + 7 1921 c.1868G>A c.(1867-1869)CGG>CAG p.R623Q NM_001194 NP_001185 Q9UL51 HCN2_HUMAN hyperpolarization activated cyclic 623 cAMP.|Cytoplasmic (Potential). cell-cell signaling|muscle contraction voltage-gated potassium channel complex cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity 0 all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) 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) GCGAGCGTGCGGGCTGACACC 0.716 NA 4 34 0 0 0 0 ZNF486 90649 broad.mit.edu 37 19 20295277 20295277 + Missense_Mutation SNP A A C TCGA-CR-7376-01A-11D-2129-08 TCGA-CR-7376-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a6b11f68-79da-4542-818d-f404116c0bf8 47cf1857-e93d-470f-abe2-bebe102fb2c1 g.chr19:20295277A>C uc002nou.2 + 2 200 c.143A>C c.(142-144)CAC>CCC p.H48P NM_052852 NP_443084 Q96H40 ZN486_HUMAN zinc finger protein 486 48 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 AACTACAGACACCTGGTCTTC 0.363 NA 11 161 0 0 0 0 KLK12 43849 broad.mit.edu 37 19 51532606 51532606 + Silent SNP A A G TCGA-CR-7376-01A-11D-2129-08 TCGA-CR-7376-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a6b11f68-79da-4542-818d-f404116c0bf8 47cf1857-e93d-470f-abe2-bebe102fb2c1 g.chr19:51532606A>G uc002pvg.1 - 5 819 c.699T>C c.(697-699)TAT>TAC p.Y233Y KLK11_uc002pvd.1_5'Flank|KLK11_uc002pve.1_5'Flank|KLK11_uc002pvf.1_5'Flank|KLK11_uc002pvc.3_5'Flank|KLK11_uc010eom.2_5'Flank|KLK12_uc010ycp.1_RNA|KLK12_uc010ycq.1_Silent_p.Y123Y|KLK12_uc010ycr.1_Silent_p.Y123Y|KLK12_uc010ycs.1_Silent_p.Y123Y|KLK12_uc002pvh.1_Silent_p.Y233Y|KLK12_uc002pvi.1_Silent_p.Y233Y|KLK12_uc002pvj.1_3'UTR NM_145894 NP_665901 Q9UKR0 KLK12_HUMAN kallikrein 12 isoform 2 233 Peptidase S1. proteolysis extracellular region|soluble fraction serine-type endopeptidase activity ovary(1) 1 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399) ACTTGCAAATATAGGTGTAGA 0.587 NA 13 113 0 0 0 0 PXDN 7837 broad.mit.edu 37 2 1652027 1652027 + Silent SNP G G C TCGA-CR-7376-01A-11D-2129-08 TCGA-CR-7376-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a6b11f68-79da-4542-818d-f404116c0bf8 47cf1857-e93d-470f-abe2-bebe102fb2c1 g.chr2:1652027G>C uc002qxa.2 - 17 3589 c.3525C>G c.(3523-3525)GTC>GTG p.V1175V NM_012293 NP_036425 Q92626 PXDN_HUMAN peroxidasin precursor 1175 extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity pancreas(6)|ovary(2) 8 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) GATTGCAGTAGACCCTGTAGT 0.572 NA 16 166 0 0 0 0 GREB1 9687 broad.mit.edu 37 2 11767109 11767109 + Missense_Mutation SNP C C T TCGA-CR-7376-01A-11D-2129-08 TCGA-CR-7376-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a6b11f68-79da-4542-818d-f404116c0bf8 47cf1857-e93d-470f-abe2-bebe102fb2c1 g.chr2:11767109C>T uc002rbk.1 + 25 4628 c.4328C>T c.(4327-4329)CCG>CTG p.P1443L GREB1_uc002rbp.1_Missense_Mutation_p.P441L NM_014668 NP_055483 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 1443 integral to membrane ovary(1) 1 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) TCCCGGAAGCCGGAGGACCTT 0.532 NA 4 65 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179439605 179439605 + Missense_Mutation SNP C C T TCGA-CR-7376-01A-11D-2129-08 TCGA-CR-7376-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a6b11f68-79da-4542-818d-f404116c0bf8 47cf1857-e93d-470f-abe2-bebe102fb2c1 g.chr2:179439605C>T uc010zfg.1 - 275 63774 c.63550G>A c.(63550-63552)GAG>AAG p.E21184K uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E14879K|TTN_uc010zfi.1_Missense_Mutation_p.E14812K|TTN_uc010zfj.1_Missense_Mutation_p.E14687K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 22111 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CCATCGTTCTCAGGTGGGTCC 0.453 NA 5 21 0 0 0 0 ERBB4 2066 broad.mit.edu 37 2 212587119 212587119 + Silent SNP T T C rs77309171 byFrequency TCGA-CR-7376-01A-11D-2129-08 TCGA-CR-7376-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a6b11f68-79da-4542-818d-f404116c0bf8 47cf1857-e93d-470f-abe2-bebe102fb2c1 g.chr2:212587119T>C uc002veg.1 - 7 980 c.882A>G c.(880-882)CCA>CCG p.P294P ERBB4_uc002veh.1_Silent_p.P294P|ERBB4_uc010zji.1_Silent_p.P294P|ERBB4_uc010zjj.1_Silent_p.P294P|ERBB4_uc010fut.1_Silent_p.P294P NM_005235 NP_005226 Q15303 ERBB4_HUMAN v-erb-a erythroblastic leukemia viral oncogene 294 Cys-rich.|Extracellular (Potential). cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 33 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) GTTACTTACGTGGACATTTCT 0.313 NA TSP Lung(8;0.080) 3 46 0 0 0 0 ZNF335 63925 broad.mit.edu 37 20 44592204 44592204 + Missense_Mutation SNP G G A rs141481390 TCGA-CR-7376-01A-11D-2129-08 TCGA-CR-7376-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a6b11f68-79da-4542-818d-f404116c0bf8 47cf1857-e93d-470f-abe2-bebe102fb2c1 g.chr20:44592204G>A uc002xqw.2 - 9 1564 c.1441C>T c.(1441-1443)CGC>TGC p.R481C ZNF335_uc010zxk.1_Missense_Mutation_p.R326C NM_022095 NP_071378 Q9H4Z2 ZN335_HUMAN zinc finger protein 335 481 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(3)|ovary(1) 4 Myeloproliferative disorder(115;0.0122) ACGTGGAAGCGCAGGTCCTCG 0.587 NA 8 154 0 0 0 0 ZNF334 55713 broad.mit.edu 37 20 45131128 45131128 + Nonsense_Mutation SNP G G A TCGA-CR-7376-01A-11D-2129-08 TCGA-CR-7376-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a6b11f68-79da-4542-818d-f404116c0bf8 47cf1857-e93d-470f-abe2-bebe102fb2c1 g.chr20:45131128G>A uc002xsc.2 - 5 1034 c.850C>T c.(850-852)CGA>TGA p.R284* ZNF334_uc002xsa.2_Nonsense_Mutation_p.R307*|ZNF334_uc002xsb.2_Nonsense_Mutation_p.R246*|ZNF334_uc002xsd.2_Nonsense_Mutation_p.R246*|ZNF334_uc010ghl.2_Nonsense_Mutation_p.R283* NM_018102 NP_060572 Q9HCZ1 ZN334_HUMAN zinc finger protein 334 isoform a 284 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1) 2 Myeloproliferative disorder(115;0.0122) TGAATTCTTCGGTGTCGAGTG 0.418 NA 5 126 0 0 0 0 ATG7 10533 broad.mit.edu 37 3 11389503 11389503 + Silent SNP C C T TCGA-CR-7376-01A-11D-2129-08 TCGA-CR-7376-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a6b11f68-79da-4542-818d-f404116c0bf8 47cf1857-e93d-470f-abe2-bebe102fb2c1 g.chr3:11389503C>T uc003bwc.2 + 12 1395 c.1278C>T c.(1276-1278)CCC>CCT p.P426P ATG7_uc003bwd.2_Silent_p.P426P|ATG7_uc011aum.1_Silent_p.P387P NM_006395 NP_006386 O95352 ATG7_HUMAN APG7 autophagy 7-like isoform a 426 autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport cytoplasm APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity central_nervous_system(1) 1 AAATATTCCCCGGTGTGGTAT 0.478 NA 8 123 0 0 0 0 TGFBR2 7048 broad.mit.edu 37 3 30713559 30713559 + Nonsense_Mutation SNP C C G TCGA-CR-7376-01A-11D-2129-08 TCGA-CR-7376-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a6b11f68-79da-4542-818d-f404116c0bf8 47cf1857-e93d-470f-abe2-bebe102fb2c1 g.chr3:30713559C>G uc003ceo.2 + 4 1266 c.884C>G c.(883-885)TCA>TGA p.S295* TGFBR2_uc003cen.2_Nonsense_Mutation_p.S320* NM_003242 NP_003233 P37173 TGFR2_HUMAN transforming growth factor, beta receptor II 295 Protein kinase.|Cytoplasmic (Potential). activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|vasculogenesis caveola|external side of plasma membrane ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding pancreas(9)|large_intestine(6)|stomach(4)|lung(3)|ovary(3)|central_nervous_system(1) 26 GACATCTTCTCAGACATCAAT 0.493 NA 9 77 0 0 0 0 SLC22A14 9389 broad.mit.edu 37 3 38347718 38347718 + Missense_Mutation SNP G G C TCGA-CR-7376-01A-11D-2129-08 TCGA-CR-7376-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a6b11f68-79da-4542-818d-f404116c0bf8 47cf1857-e93d-470f-abe2-bebe102fb2c1 g.chr3:38347718G>C uc010hhc.1 + 2 243 c.201G>C c.(199-201)CAG>CAC p.Q67H SLC22A14_uc003cia.2_Missense_Mutation_p.Q67H|SLC22A14_uc003cib.2_Missense_Mutation_p.Q67H|SLC22A14_uc011ayo.1_RNA NM_004803 NP_004794 Q9Y267 S22AE_HUMAN organic cation transporter like 4 67 Cytoplasmic (Potential). integral to plasma membrane organic cation transmembrane transporter activity 0 KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696) CATTCCAGCAGAGGCTAGTAG 0.532 NA 10 85 0 0 0 0 ACOX2 8309 broad.mit.edu 37 3 58514635 58514635 + Silent SNP G G C TCGA-CR-7376-01A-11D-2129-08 TCGA-CR-7376-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a6b11f68-79da-4542-818d-f404116c0bf8 47cf1857-e93d-470f-abe2-bebe102fb2c1 g.chr3:58514635G>C uc003dkl.2 - 9 1216 c.1041C>G c.(1039-1041)CTC>CTG p.L347L NM_003500 NP_003491 Q99424 ACOX2_HUMAN acyl-Coenzyme A oxidase 2 347 bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase peroxisomal matrix 3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity 0 BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156) GCTGAGGAAAGAGTTTCTGCT 0.463 NA 8 77 0 0 0 0 GPR15 2838 broad.mit.edu 37 3 98251012 98251012 + Silent SNP G G T TCGA-CR-7376-01A-11D-2129-08 TCGA-CR-7376-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a6b11f68-79da-4542-818d-f404116c0bf8 47cf1857-e93d-470f-abe2-bebe102fb2c1 g.chr3:98251012G>T uc011bgy.1 + 1 135 c.135G>T c.(133-135)CTG>CTT p.L45L NM_005290 NP_005281 P49685 GPR15_HUMAN G protein-coupled receptor 15 45 Helical; Name=1; (Potential). integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled ovary(1) 1 Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255) Lung(72;0.246) CTGTGTTCCTGACTGGAGTGC 0.502 NA 7 68 8.13e-05 9.03e-05 1 0 SLC34A2 10568 broad.mit.edu 37 4 25667818 25667818 + Missense_Mutation SNP G G A TCGA-CR-7376-01A-11D-2129-08 TCGA-CR-7376-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a6b11f68-79da-4542-818d-f404116c0bf8 47cf1857-e93d-470f-abe2-bebe102fb2c1 g.chr4:25667818G>A uc003grr.2 + 5 529 c.448G>A c.(448-450)GGG>AGG p.G150R SLC34A2_uc003grs.2_Missense_Mutation_p.G149R|SLC34A2_uc010iev.2_Missense_Mutation_p.G149R NM_006424 NP_006415 O95436 NPT2B_HUMAN solute carrier family 34 (sodium phosphate), 150 Helical; Name=M2; (Potential). cellular phosphate ion homeostasis apical plasma membrane|brush border membrane|integral to plasma membrane phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity skin(3)|ovary(1)|kidney(1) 5 Breast(46;0.0503) GCTGGTGATCGGGGTGCTGGT 0.507 NA 6 100 0 0 0 0 FAT4 79633 broad.mit.edu 37 4 126412367 126412367 + Missense_Mutation SNP C C A TCGA-CR-7376-01A-11D-2129-08 TCGA-CR-7376-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a6b11f68-79da-4542-818d-f404116c0bf8 47cf1857-e93d-470f-abe2-bebe102fb2c1 g.chr4:126412367C>A uc003ifj.3 + 17 14390 c.14390C>A c.(14389-14391)ACA>AAA p.T4797K FAT4_uc011cgp.1_Missense_Mutation_p.T3038K|FAT4_uc003ifi.1_Missense_Mutation_p.T2274K NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 4797 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 AGGCTCAACACACCTCGCCCT 0.527 NA 6 71 3.6e-05 4.08e-05 1 0 TRIO 7204 broad.mit.edu 37 5 14504668 14504668 + Missense_Mutation SNP G G C TCGA-CR-7376-01A-11D-2129-08 TCGA-CR-7376-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a6b11f68-79da-4542-818d-f404116c0bf8 47cf1857-e93d-470f-abe2-bebe102fb2c1 g.chr5:14504668G>C uc003jff.2 + 55 8584 c.8578G>C c.(8578-8580)GAG>CAG p.E2860Q TRIO_uc003jfg.2_RNA NM_007118 NP_009049 O75962 TRIO_HUMAN triple functional domain (PTPRF interacting) 2860 Protein kinase. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1) 18 Lung NSC(4;0.000742) CGACACCTTTGAGACCCCCAC 0.582 NA 8 228 0 0 0 0 SLC4A9 83697 broad.mit.edu 37 5 139747331 139747331 + Silent SNP C C G TCGA-CR-7376-01A-11D-2129-08 TCGA-CR-7376-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a6b11f68-79da-4542-818d-f404116c0bf8 47cf1857-e93d-470f-abe2-bebe102fb2c1 g.chr5:139747331C>G uc003lfm.2 + 16 2309 c.2274C>G c.(2272-2274)CTC>CTG p.L758L SLC4A9_uc003lfj.2_Silent_p.L734L|SLC4A9_uc011czg.1_Silent_p.L671L|SLC4A9_uc003lfl.2_Silent_p.L734L|SLC4A9_uc003lfk.2_Silent_p.L720L NM_031467 NP_113655 Q96Q91 B3A4_HUMAN solute carrier family 4, sodium bicarbonate 758 Helical; (Potential).|Membrane (anion exchange). integral to membrane|plasma membrane inorganic anion exchanger activity|sodium:bicarbonate symporter activity large_intestine(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACCTGGACCTCTTCTGTGTGG 0.582 NA 4 38 0 0 0 0 PCDHGA12 26025 broad.mit.edu 37 5 140812277 140812277 + Missense_Mutation SNP C C A TCGA-CR-7376-01A-11D-2129-08 TCGA-CR-7376-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a6b11f68-79da-4542-818d-f404116c0bf8 47cf1857-e93d-470f-abe2-bebe102fb2c1 g.chr5:140812277C>A uc003lkt.1 + 1 2120 c.1951C>A c.(1951-1953)CAG>AAG p.Q651K PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Missense_Mutation_p.Q651K NM_003735 NP_003726 O60330 PCDGC_HUMAN protocadherin gamma subfamily A, 12 isoform 1 651 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|pancreas(1)|skin(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGACCACGGCCAGCCCCCTCT 0.697 NA 10 121 6.4e-05 7.15e-05 1 0 OR2J2 26707 broad.mit.edu 37 6 29141890 29141890 + Missense_Mutation SNP C C T TCGA-CR-7376-01A-11D-2129-08 TCGA-CR-7376-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a6b11f68-79da-4542-818d-f404116c0bf8 47cf1857-e93d-470f-abe2-bebe102fb2c1 g.chr6:29141890C>T uc011dlm.1 + 1 580 c.478C>T c.(478-480)CAT>TAT p.H160Y NM_030905 NP_112167 O76002 OR2J2_HUMAN olfactory receptor, family 2, subfamily J, 160 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 CTCAGCACTTCATTCCTCCTT 0.463 NA 19 250 0 0 0 0 TDRD6 221400 broad.mit.edu 37 6 46658969 46658969 + Missense_Mutation SNP A A G TCGA-CR-7376-01A-11D-2129-08 TCGA-CR-7376-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a6b11f68-79da-4542-818d-f404116c0bf8 47cf1857-e93d-470f-abe2-bebe102fb2c1 g.chr6:46658969A>G uc003oyj.2 + 1 3104 c.3104A>G c.(3103-3105)AAC>AGC p.N1035S TDRD6_uc010jze.2_Missense_Mutation_p.N1029S NM_001010870 NP_001010870 O60522 TDRD6_HUMAN tudor domain containing 6 1035 Tudor 5. cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding breast(3)|ovary(2)|skin(1) 6 Lung(136;0.192) TCTCCCTTGAACCCTGGAACC 0.368 NA 4 83 0 0 0 0 AIM1 202 broad.mit.edu 37 6 106967352 106967352 + Missense_Mutation SNP G G A TCGA-CR-7376-01A-11D-2129-08 TCGA-CR-7376-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a6b11f68-79da-4542-818d-f404116c0bf8 47cf1857-e93d-470f-abe2-bebe102fb2c1 g.chr6:106967352G>A uc003prh.2 + 2 1532 c.1045G>A c.(1045-1047)GAA>AAA p.E349K NM_001624 NP_001615 Q9Y4K1 AIM1_HUMAN absent in melanoma 1 349 sugar binding breast(4)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1) 9 Breast(9;0.0138)|all_epithelial(6;0.169) all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473) Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305) all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858) TACCGTCTCGGAAGAAGAGAT 0.438 NA 8 67 0 0 0 0 MYO1G 64005 broad.mit.edu 37 7 45010270 45010270 + Missense_Mutation SNP G G A TCGA-CR-7376-01A-11D-2129-08 TCGA-CR-7376-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a6b11f68-79da-4542-818d-f404116c0bf8 47cf1857-e93d-470f-abe2-bebe102fb2c1 g.chr7:45010270G>A uc003tmh.2 - 9 1282 c.1138C>T c.(1138-1140)CGG>TGG p.R380W MYO1G_uc003tmf.2_5'Flank|MYO1G_uc003tmg.2_Missense_Mutation_p.R142W|MYO1G_uc010kym.2_Missense_Mutation_p.R265W|MYO1G_uc003tmi.1_Missense_Mutation_p.R292W|MYO1G_uc003tmj.2_Missense_Mutation_p.R142W NM_033054 NP_149043 B0I1T2 MYO1G_HUMAN myosin IG 380 Myosin head-like. myosin complex|plasma membrane actin binding|ATP binding|calmodulin binding|motor activity breast(2)|ovary(1)|pancreas(1) 4 CGAGGATCCCGGCCCCGGGGT 0.602 NA 12 118 0 0 0 0 SUMF2 25870 broad.mit.edu 37 7 56136270 56136270 + Missense_Mutation SNP C C T rs150976522 byFrequency TCGA-CR-7376-01A-11D-2129-08 TCGA-CR-7376-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a6b11f68-79da-4542-818d-f404116c0bf8 47cf1857-e93d-470f-abe2-bebe102fb2c1 g.chr7:56136270C>T uc003trv.2 + 2 251 c.220C>T c.(220-222)CGG>TGG p.R74W PSPH_uc003trj.2_Intron|SUMF2_uc003tro.2_Missense_Mutation_p.R74W|SUMF2_uc011kcv.1_RNA|SUMF2_uc011kcw.1_Missense_Mutation_p.R74W|SUMF2_uc011kcx.1_Missense_Mutation_p.R74W|SUMF2_uc003trt.2_Intron|SUMF2_uc011kcy.1_Missense_Mutation_p.R74W|SUMF2_uc011kcz.1_Missense_Mutation_p.R74W|SUMF2_uc003tru.2_RNA|SUMF2_uc011kda.1_5'UTR|SUMF2_uc003trx.2_RNA NM_001130069 NP_001123541 Q8NBJ7 SUMF2_HUMAN sulfatase modifying factor 2 isoform e 55 endoplasmic reticulum lumen metal ion binding ovary(1)|skin(1) 2 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) CGGGCCTGTGCGGGAGGCGAC 0.507 NA 4 46 0 0 0 0 RABGEF1 27342 broad.mit.edu 37 7 66262383 66262383 + Missense_Mutation SNP G G C TCGA-CR-7376-01A-11D-2129-08 TCGA-CR-7376-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a6b11f68-79da-4542-818d-f404116c0bf8 47cf1857-e93d-470f-abe2-bebe102fb2c1 g.chr7:66262383G>C uc011kee.1 + 6 824 c.660G>C c.(658-660)AAG>AAC p.K220N RABGEF1_uc003tvf.2_Missense_Mutation_p.K79N|RABGEF1_uc003tvg.2_Missense_Mutation_p.K14N|RABGEF1_uc010lag.2_Missense_Mutation_p.K206N|RABGEF1_uc003tvh.2_Missense_Mutation_p.K206N|RABGEF1_uc003tvi.2_Missense_Mutation_p.K40N NM_014504 NP_055319 Q9UJ41 RABX5_HUMAN RAB guanine nucleotide exchange factor (GEF) 1 423 endocytosis|protein transport early endosome|recycling endosome DNA binding|protein binding|zinc ion binding ovary(1) 1 GAGTCGAGAAGATAATGGATC 0.279 NA 4 46 0 0 0 0 AKAP9 10142 broad.mit.edu 37 7 91682106 91682106 + Nonsense_Mutation SNP C C G TCGA-CR-7376-01A-11D-2129-08 TCGA-CR-7376-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a6b11f68-79da-4542-818d-f404116c0bf8 47cf1857-e93d-470f-abe2-bebe102fb2c1 g.chr7:91682106C>G uc003ulg.2 + 22 5660 c.5435C>G c.(5434-5436)TCA>TGA p.S1812* AKAP9_uc003ulf.2_Nonsense_Mutation_p.S1812*|AKAP9_uc003uli.2_Nonsense_Mutation_p.S1435* NM_005751 NP_005742 Q99996 AKAP9_HUMAN A-kinase anchor protein 9 isoform 2 1824 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1) 26 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) AACATGTGGTCAAAAGTAACT 0.373 NA T BRAF papillary thyroid 9 61 0 0 0 0 PCOLCE 5118 broad.mit.edu 37 7 100205594 100205594 + Silent SNP G G A TCGA-CR-7376-01A-11D-2129-08 TCGA-CR-7376-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a6b11f68-79da-4542-818d-f404116c0bf8 47cf1857-e93d-470f-abe2-bebe102fb2c1 g.chr7:100205594G>A uc003uvo.2 + 9 1416 c.1218G>A c.(1216-1218)GAG>GAA p.E406E PCOLCE_uc010lhb.1_RNA|PCOLCE_uc003uvp.1_RNA NM_002593 NP_002584 Q15113 PCOC1_HUMAN procollagen C-endopeptidase enhancer 406 NTR. multicellular organismal development extracellular space collagen binding|heparin binding|peptidase activator activity 0 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) AGGTAGAAGAGAACAGAGGCC 0.547 NA 12 105 0 0 0 0 MUC17 140453 broad.mit.edu 37 7 100685103 100685103 + Missense_Mutation SNP C C T rs146748610 byFrequency TCGA-CR-7376-01A-11D-2129-08 TCGA-CR-7376-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a6b11f68-79da-4542-818d-f404116c0bf8 47cf1857-e93d-470f-abe2-bebe102fb2c1 g.chr7:100685103C>T uc003uxp.1 + 3 10459 c.10406C>T c.(10405-10407)CCG>CTG p.P3469L MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 3469 Extracellular (Potential).|Ser-rich.|56.|59 X approximate tandem repeats. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) AGTACCACGCCGGTGGCCAGT 0.498 NA 33 350 0 0 0 0 PIK3CG 5294 broad.mit.edu 37 7 106520087 106520087 + Missense_Mutation SNP C C T TCGA-CR-7376-01A-11D-2129-08 TCGA-CR-7376-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a6b11f68-79da-4542-818d-f404116c0bf8 47cf1857-e93d-470f-abe2-bebe102fb2c1 g.chr7:106520087C>T uc003vdv.3 + 6 2600 c.2515C>T c.(2515-2517)CGC>TGC p.R839C PIK3CG_uc003vdu.2_Missense_Mutation_p.R839C|PIK3CG_uc003vdw.2_Missense_Mutation_p.R839C NM_002649 NP_002640 P48736 PK3CG_HUMAN phosphoinositide-3-kinase, catalytic, gamma 839 PI3K/PI4K. G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding p.R839C(1) lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1) 38 TGATGATCTGCGCCAAGACAT 0.333 NA 6 67 0 0 0 0 LAMB1 3912 broad.mit.edu 37 7 107572693 107572693 + Missense_Mutation SNP C C T TCGA-CR-7376-01A-11D-2129-08 TCGA-CR-7376-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a6b11f68-79da-4542-818d-f404116c0bf8 47cf1857-e93d-470f-abe2-bebe102fb2c1 g.chr7:107572693C>T uc003vew.2 - 28 4653 c.4318G>A c.(4318-4320)GCC>ACC p.A1440T LAMB1_uc003vev.2_Missense_Mutation_p.A1464T|LAMB1_uc003veu.2_5'Flank NM_002291 NP_002282 P07942 LAMB1_HUMAN laminin, beta 1 precursor 1440 Domain I. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 8 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TTCTGCCAGGCGTTGTGTGCA 0.552 NA 19 179 0 0 0 0 OR6B1 135946 broad.mit.edu 37 7 143701885 143701885 + Missense_Mutation SNP T T G TCGA-CR-7376-01A-11D-2129-08 TCGA-CR-7376-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a6b11f68-79da-4542-818d-f404116c0bf8 47cf1857-e93d-470f-abe2-bebe102fb2c1 g.chr7:143701885T>G uc003wdt.1 + 1 796 c.796T>G c.(796-798)TTC>GTC p.F266V NM_001005281 NP_001005281 O95007 OR6B1_HUMAN olfactory receptor, family 6, subfamily B, 266 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Melanoma(164;0.0783) TATCCATGCCTTCAACATGAA 0.428 NA 8 90 0 0 0 0 PRKAG2 51422 broad.mit.edu 37 7 151573605 151573605 + Missense_Mutation SNP C C T TCGA-CR-7376-01A-11D-2129-08 TCGA-CR-7376-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a6b11f68-79da-4542-818d-f404116c0bf8 47cf1857-e93d-470f-abe2-bebe102fb2c1 g.chr7:151573605C>T uc003wkk.2 - 1 712 c.101G>A c.(100-102)CGC>CAC p.R34H PRKAG2_uc010lqe.1_RNA|PRKAG2_uc003wkm.1_Missense_Mutation_p.R34H|uc003wko.1_5'Flank NM_016203 NP_057287 Q9UGJ0 AAKG2_HUMAN AMP-activated protein kinase gamma2 subunit 34 ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process AMP-activated protein kinase complex|cytosol|nucleoplasm ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding breast(1)|kidney(1) 2 all_neural(206;0.187) all_hematologic(28;0.0605) OV - Ovarian serous cystadenocarcinoma(82;0.00252) UCEC - Uterine corpus endometrioid carcinoma (81;0.185) AATGTGCACGCGCAGCGAACG 0.647 NA 7 68 0 0 0 0 PREX2 80243 broad.mit.edu 37 8 69005941 69005941 + Silent SNP T T C TCGA-CR-7376-01A-11D-2129-08 TCGA-CR-7376-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a6b11f68-79da-4542-818d-f404116c0bf8 47cf1857-e93d-470f-abe2-bebe102fb2c1 g.chr8:69005941T>C uc003xxv.1 + 21 2379 c.2352T>C c.(2350-2352)TTT>TTC p.F784F PREX2_uc003xxu.1_Silent_p.F784F|PREX2_uc011lez.1_Silent_p.F719F NM_024870 NP_079146 Q70Z35 PREX2_HUMAN DEP domain containing 2 isoform a 784 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1) 17 GGGATGCTTTTGACTGTAAAG 0.403 NA 9 102 0 0 0 0 C8orf34 116328 broad.mit.edu 37 8 69358591 69358591 + Missense_Mutation SNP G G A TCGA-CR-7376-01A-11D-2129-08 TCGA-CR-7376-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a6b11f68-79da-4542-818d-f404116c0bf8 47cf1857-e93d-470f-abe2-bebe102fb2c1 g.chr8:69358591G>A uc010lyz.2 + 3 294 c.245G>A c.(244-246)AGA>AAA p.R82K C8orf34_uc010lyx.1_Missense_Mutation_p.R82K|C8orf34_uc010lyy.1_Missense_Mutation_p.R82K|C8orf34_uc003xyb.2_Missense_Mutation_p.R57K NM_052958 NP_443190 Q49A92 CH034_HUMAN hypothetical protein LOC116328 82 signal transduction cAMP-dependent protein kinase regulator activity large_intestine(1) 1 Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502) AGGGATTTCAGAAGCTATGAT 0.348 NA 4 58 0 0 0 0 RSPO2 340419 broad.mit.edu 37 8 109001316 109001316 + Missense_Mutation SNP C C T TCGA-CR-7376-01A-11D-2129-08 TCGA-CR-7376-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a6b11f68-79da-4542-818d-f404116c0bf8 47cf1857-e93d-470f-abe2-bebe102fb2c1 g.chr8:109001316C>T uc003yms.2 - 3 909 c.251G>A c.(250-252)GGA>GAA p.G84E RSPO2_uc003ymq.2_Missense_Mutation_p.G17E|RSPO2_uc003ymr.2_Intron NM_178565 NP_848660 Q6UXX9 RSPO2_HUMAN R-spondin family, member 2 precursor 84 Wnt receptor signaling pathway extracellular region heparin binding skin(3)|ovary(2)|pancreas(1)|lung(1) 7 OV - Ovarian serous cystadenocarcinoma(57;1.55e-09) GGCTCGGTGTCCATAGTACCC 0.488 NA 4 78 0 0 0 0 CSMD3 114788 broad.mit.edu 37 8 113308235 113308235 + Missense_Mutation SNP G G A TCGA-CR-7376-01A-11D-2129-08 TCGA-CR-7376-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a6b11f68-79da-4542-818d-f404116c0bf8 47cf1857-e93d-470f-abe2-bebe102fb2c1 g.chr8:113308235G>A uc003ynu.2 - 54 8600 c.8441C>T c.(8440-8442)GCG>GTG p.A2814V CSMD3_uc003yns.2_Missense_Mutation_p.A2016V|CSMD3_uc003ynt.2_Missense_Mutation_p.A2774V|CSMD3_uc011lhx.1_Missense_Mutation_p.A2645V NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 2814 Extracellular (Potential).|Sushi 17. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 ACAATGACCCGCTGAAATACG 0.299 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 4 35 0 0 0 0 GLIS3 169792 broad.mit.edu 37 9 4285986 4285986 + Missense_Mutation SNP G G C rs10758591 by1000genomes TCGA-CR-7376-01A-11D-2129-08 TCGA-CR-7376-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a6b11f68-79da-4542-818d-f404116c0bf8 47cf1857-e93d-470f-abe2-bebe102fb2c1 g.chr9:4285986G>C uc003zii.1 - 2 1153 c.440C>G c.(439-441)CCC>CGC p.P147R GLIS3_uc003zhx.1_Intron|GLIS3_uc003zic.1_Intron|GLIS3_uc003zie.1_Intron|GLIS3_uc010mhh.1_Intron|GLIS3_uc003zid.1_Intron|GLIS3_uc010mhi.1_Intron|GLIS3_uc003zif.1_Intron|GLIS3_uc003zig.1_Intron|GLIS3_uc003zih.1_Intron Q8NEA6 GLIS3_HUMAN SubName: Full=GLIS family zinc finger 3 transcript variant TS2; SubName: Full=GLIS family zinc finger 3 transcript variant TS3; SubName: Full=GLIS family zinc finger 3 transcript variant TS4; SubName: Full=GLIS family zinc finger 3 transcript variant TS5; Flags: Fragment; Error:Variant_position_missing_in_Q8NEA6_after_alignment negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter DNA binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148) Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148) AATGGGATGGGGGAGAAAAAA 0.408 NA 4 68 0 0 0 0 GNE 10020 broad.mit.edu 37 9 36236908 36236908 + Silent SNP T T A TCGA-CR-7376-01A-11D-2129-08 TCGA-CR-7376-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a6b11f68-79da-4542-818d-f404116c0bf8 47cf1857-e93d-470f-abe2-bebe102fb2c1 g.chr9:36236908T>A uc010mlh.2 - 4 905 c.690A>T c.(688-690)ATA>ATT p.I230I CLTA_uc003zzf.1_Intron|GNE_uc010mlg.2_Silent_p.I230I|GNE_uc011lpl.1_Intron|GNE_uc010mli.2_Silent_p.I261I|GNE_uc010mlj.2_Silent_p.I225I NM_005476 NP_005467 Q9Y223 GLCNE_HUMAN UDP-N-acetylglucosamine-2-epimerase/N- 230 UDP-N-acetylglucosamine 2-epimerase. cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity 0 STAD - Stomach adenocarcinoma(86;0.228) CAAACATTTTTATGGAATGCT 0.348 NA 6 70 0 0 0 0 FAM75A6 389730 broad.mit.edu 37 9 43625382 43625382 + Missense_Mutation SNP G G A rs143826416 by1000genomes TCGA-CR-7376-01A-11D-2129-08 TCGA-CR-7376-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a6b11f68-79da-4542-818d-f404116c0bf8 47cf1857-e93d-470f-abe2-bebe102fb2c1 g.chr9:43625382G>A uc011lrb.1 - 4 3334 c.3305C>T c.(3304-3306)CCT>CTT p.P1102L NM_001145196 NP_001138668 Q5VVP1 F75A6_HUMAN hypothetical protein LOC389730 1102 integral to membrane 0 CTTGTGAATAGGGGGAAACAT 0.483 NA 7 125 0 0 0 0 NOTCH1 4851 broad.mit.edu 37 9 139411828 139411828 + Missense_Mutation SNP C C A TCGA-CR-7376-01A-11D-2129-08 TCGA-CR-7376-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a6b11f68-79da-4542-818d-f404116c0bf8 47cf1857-e93d-470f-abe2-bebe102fb2c1 g.chr9:139411828C>A uc004chz.2 - 9 1451 c.1451G>T c.(1450-1452)GGT>GTT p.G484V NM_017617 NP_060087 P46531 NOTC1_HUMAN notch1 preproprotein 484 Extracellular (Potential).|EGF-like 12; calcium-binding (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity p.G484V(2) haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1) 856 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) GCAGTGCACACCCTCGTAGCC 0.652 NA T|Mis|O TRB@ T-ALL HNSCC(8;0.001) 3 16 0.004672 0.00503138 1 0 GLRA2 2742 broad.mit.edu 37 X 14550468 14550468 + Missense_Mutation SNP A A G TCGA-CR-7376-01A-11D-2129-08 TCGA-CR-7376-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a6b11f68-79da-4542-818d-f404116c0bf8 47cf1857-e93d-470f-abe2-bebe102fb2c1 g.chrX:14550468A>G uc010nep.2 + 3 508 c.176A>G c.(175-177)GAT>GGT p.D59G GLRA2_uc010neq.2_Missense_Mutation_p.D59G|GLRA2_uc004cwe.3_Missense_Mutation_p.D59G|GLRA2_uc011mio.1_5'UTR|GLRA2_uc011mip.1_Missense_Mutation_p.D37G NM_001118885 NP_001112357 P23416 GLRA2_HUMAN glycine receptor, alpha 2 isoform A 59 Extracellular (Probable). neuropeptide signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity ovary(1)|lung(1) 2 Hepatocellular(33;0.128) Ethanol(DB00898)|Glycine(DB00145) TCAGGATATGATGCAAGAATC 0.378 NA 10 43 0 0 0 0 RBBP7 5931 broad.mit.edu 37 X 16870184 16870184 + Missense_Mutation SNP T T G TCGA-CR-7376-01A-11D-2129-08 TCGA-CR-7376-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a6b11f68-79da-4542-818d-f404116c0bf8 47cf1857-e93d-470f-abe2-bebe102fb2c1 g.chrX:16870184T>G uc004cxt.2 - 9 1383 c.1025A>C c.(1024-1026)AAT>ACT p.N342T RBBP7_uc004cxs.1_Missense_Mutation_p.N386T|RBBP7_uc004cxu.2_Missense_Mutation_p.N333T NM_002893 NP_002884 Q16576 RBBP7_HUMAN retinoblastoma binding protein 7 342 WD 6. cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex|NuRD complex protein binding upper_aerodigestive_tract(1)|ovary(1) 2 Hepatocellular(33;0.0997) ATCCCACACATTCAGGCGGCG 0.368 NA 17 111 0 0 0 0 ELF4 2000 broad.mit.edu 37 X 129201444 129201444 + Missense_Mutation SNP G G A TCGA-CR-7376-01A-11D-2129-08 TCGA-CR-7376-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a6b11f68-79da-4542-818d-f404116c0bf8 47cf1857-e93d-470f-abe2-bebe102fb2c1 g.chrX:129201444G>A uc004evd.3 - 9 1629 c.1244C>T c.(1243-1245)TCG>TTG p.S415L ELF4_uc004eve.3_Missense_Mutation_p.S415L NM_001421 NP_001412 Q99607 ELF4_HUMAN E74-like factor 4 415 natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter PML body protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 GGTCAGGGCCGAGCCCGACCC 0.587 NA T ERG AML 12 46 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7579698 7579699 + Splice_Site INS - - CC TCGA-CR-7376-01A-11D-2129-08 TCGA-CR-7376-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a6b11f68-79da-4542-818d-f404116c0bf8 47cf1857-e93d-470f-abe2-bebe102fb2c1 g.chr17:7579698_7579699insCC uc002gim.2 - 3 290 c.96_splice c.e3+1 p.L32_splice TP53_uc002gig.1_Splice_Site_p.L32_splice|TP53_uc002gih.2_Splice_Site_p.L32_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Splice_Site_p.L32_splice|TP53_uc010cni.1_Splice_Site_p.L32_splice|TP53_uc002gij.2_Splice_Site_p.L32_splice|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Splice_Site_p.L32_splice|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Splice_Site|TP53_uc010cnk.1_Splice_Site_p.L47_splice NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(7)|p.?(2)|p.S33fs*10(1)|p.P13fs*18(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CCTTGTCCTTACCAGAACGTTG 0.381 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 9 50 --- --- --- --- NA NA NA NA H1FX 8971 broad.mit.edu 37 3 129034495 129034495 + Frame_Shift_Del DEL T T - TCGA-CR-7376-01A-11D-2129-08 TCGA-CR-7376-10A-01D-2129-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq a6b11f68-79da-4542-818d-f404116c0bf8 47cf1857-e93d-470f-abe2-bebe102fb2c1 g.chr3:129034495delT uc003elx.2 - 1 626 c.251delA c.(250-252)AATfs p.N84fs C3orf47_uc011bkv.1_5'Flank NM_006026 NP_006017 Q92522 H1X_HUMAN H1 histone family, member X 84 H15. nucleosome assembly nucleosome|nucleus DNA binding 0 GGTGCGCCCATTCTGCTGGTC 0.612 NA 2 4 --- --- --- --- NA NA NA NA