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 RPL11 6135 broad.mit.edu 37 1 24018320 24018320 + Splice_Site SNP G G T TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 g.chr1:24018320G>T uc001bhk.2 + 1 26 c.6_splice c.e1+1 p.A2_splice RPL11_uc001bhl.2_Splice_Site_p.A2_splice|RPL11_uc001bhm.2_5'Flank|RPL11_uc001bhn.1_5'Flank NM_000975 NP_000966 P62913 RL11_HUMAN ribosomal protein L11 endocrine pancreas development|protein localization to nucleus|protein targeting|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleolus protein binding|rRNA binding|structural constituent of ribosome central_nervous_system(1) 1 Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185) CATCATGGCGGTGAGTAGCTG 0.607000 OREG0013231 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) PAQR7 164091 broad.mit.edu 37 1 26189730 26189730 + Silent SNP G G A TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 g.chr1:26189730G>A uc001bkx.2 - 2 1268 c.601C>T c.(601-603)CTG>TTG p.L201L NM_178422 NP_848509 Q86WK9 MPRA_HUMAN progestin and adipoQ receptor family member VII 201 Cytoplasmic (Potential). cell differentiation|multicellular organismal development|oogenesis integral to membrane|plasma membrane receptor activity|steroid binding breast(3) 3 Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649) GTGCGGCCCAGCAGGCCTGGT 0.592000 WDR65 149465 broad.mit.edu 37 1 43647330 43647330 + Missense_Mutation SNP C C T TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 g.chr1:43647330C>T uc001cip.1 + 3 404 c.283C>T c.(283-285)CGG>TGG p.R95W EBNA1BP2_uc001cio.2_Intron|WDR65_uc010ojz.1_Missense_Mutation_p.R84W|WDR65_uc001ciq.1_Missense_Mutation_p.R95W NM_152498 NP_689711 Q96MR6 WDR65_HUMAN WD repeat domain 65 95 skin(1) 1 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) CATCCCTTGCCGGAAGCGCAA 0.448000 PTGFR 5737 broad.mit.edu 37 1 78958499 78958499 + Missense_Mutation SNP C C T TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 g.chr1:78958499C>T uc001din.2 + 2 337 c.71C>T c.(70-72)ACG>ATG p.T24M PTGFR_uc001dim.2_Missense_Mutation_p.T24M NM_000959 NP_000950 P43088 PF2R_HUMAN prostaglandin F receptor isoform a precursor 24 Extracellular (Potential). parturition extracellular region|integral to plasma membrane prostaglandin F receptor activity ovary(3)|breast(2)|skin(1) 6 Colorectal(170;0.248) Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287) ACCTGCCAGACGGAAAACCGG 0.448000 RPL5 6125 broad.mit.edu 37 1 93301861 93301861 + Missense_Mutation SNP G G C TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 g.chr1:93301861G>C uc001doz.2 + 5 517 c.439G>C c.(439-441)GAT>CAT p.D147H FAM69A_uc001dpc.2_Intron|RPL5_uc001dpa.2_RNA|RPL5_uc001dpb.2_Missense_Mutation_p.D97H|RPL5_uc001dpd.2_5'UTR|SNORD21_uc001dpe.2_5'Flank NM_000969 NP_000960 P46777 RL5_HUMAN ribosomal protein L5 147 endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleolus 5S rRNA binding|protein binding|structural constituent of ribosome 0 all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203) GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927) CTGCTATTTGGATGCAGGCCT 0.488000 DDX21 9188 broad.mit.edu 37 10 70716038 70716038 + Silent SNP A A G TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 g.chr10:70716038A>G uc001jov.1 + 1 147 c.57A>G c.(55-57)AAA>AAG p.K19K DDX21_uc001jow.1_5'Flank NM_004728 NP_004719 Q9NR30 DDX21_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 21 19 nucleolus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding ovary(2)|kidney(1) 3 CAATGAAAAAAGGGGAGACAC 0.607000 PRF1 5551 broad.mit.edu 37 10 72360571 72360571 + Missense_Mutation SNP C C G TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 g.chr10:72360571C>G uc009xqg.2 - 2 249 c.88G>C c.(88-90)GAG>CAG p.E30Q PRF1_uc001jrf.3_Missense_Mutation_p.E30Q NM_001083116 NP_001076585 P14222 PERF_HUMAN perforin 1 precursor 30 MACPF. apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane calcium ion binding|protein binding|wide pore channel activity large_intestine(1)|ovary(1)|central_nervous_system(1) 3 CGCTTGCACTCTGAGCGTGCG 0.687000 M various leukaemia|lymphoma Type 2 familial hemophagocytic lymphohistiocytosis Familial_Hemophagocytic_Lymphohistiocytosis OR51G2 81282 broad.mit.edu 37 11 4936743 4936743 + Missense_Mutation SNP G G C TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 g.chr11:4936743G>C uc001lzr.1 - 1 151 c.151C>G c.(151-153)CTT>GTT p.L51V NM_001005238 NP_001005238 Q8NGK0 O51G2_HUMAN olfactory receptor, family 51, subfamily G, 51 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) ATGATAAAAAGAATTGTGCAG 0.512000 DENND5A 23258 broad.mit.edu 37 11 9225374 9225374 + Missense_Mutation SNP T T G TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 g.chr11:9225374T>G uc001mhl.2 - 4 1037 c.782A>C c.(781-783)AAG>ACG p.K261T DENND5A_uc010rbw.1_Missense_Mutation_p.K261T|DENND5A_uc010rbx.1_RNA NM_015213 NP_056028 Q6IQ26 DEN5A_HUMAN RAB6 interacting protein 1 261 DENN. liver(1) 1 CCCAGAAAACTTCAAGGACCG 0.532000 OR4C15 81309 broad.mit.edu 37 11 55321938 55321938 + Missense_Mutation SNP G G C TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 g.chr11:55321938G>C uc010rig.1 + 1 156 c.156G>C c.(154-156)TTG>TTC p.L52F NM_001001920 NP_001001920 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, Error:Variant_position_missing_in_Q8NGM1_after_alignment sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 TCTTTTCCTTGGGAAACATGC 0.358000 HNSCC(20;0.049) SHANK2 22941 broad.mit.edu 37 11 70332306 70332306 + Silent SNP G G C TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 g.chr11:70332306G>C uc001oqc.2 - 21 4170 c.4092C>G c.(4090-4092)GCC>GCG p.A1364A SHANK2_uc010rqn.1_Silent_p.A776A|SHANK2_uc001opz.2_Silent_p.A769A|uc009ysn.1_Intron|SHANK2_uc001opy.2_Intron NM_012309 NP_036441 Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 985 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) TGGGCTCGGGGGCAGCGGAGA 0.622000 PCF11 51585 broad.mit.edu 37 11 82868552 82868552 + Nonsense_Mutation SNP C C G TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 g.chr11:82868552C>G uc001ozx.3 + 1 416 c.71C>G c.(70-72)TCA>TGA p.S24* PCF11_uc010rsu.1_Nonsense_Mutation_p.S24*|PCF11_uc001ozy.2_Nonsense_Mutation_p.S24* NM_015885 NP_056969 O94913 PCF11_HUMAN pre-mRNA cleavage complex II protein Pcf11 24 CID. mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage factor complex ovary(1) 1 GATTATCAGTCATCGCTCGAA 0.637000 PCF11 51585 broad.mit.edu 37 11 82868584 82868584 + Missense_Mutation SNP C C G TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 g.chr11:82868584C>G uc001ozx.3 + 1 448 c.103C>G c.(103-105)CCG>GCG p.P35A PCF11_uc010rsu.1_Missense_Mutation_p.P35A|PCF11_uc001ozy.2_Missense_Mutation_p.P35A NM_015885 NP_056969 O94913 PCF11_HUMAN pre-mRNA cleavage complex II protein Pcf11 35 CID. mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage factor complex ovary(1) 1 CAATAGCAAGCCGCACATCAA 0.587000 PCF11 51585 broad.mit.edu 37 11 82868592 82868592 + Silent SNP C C T TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 g.chr11:82868592C>T uc001ozx.3 + 1 456 c.111C>T c.(109-111)ATC>ATT p.I37I PCF11_uc010rsu.1_Silent_p.I37I|PCF11_uc001ozy.2_Silent_p.I37I NM_015885 NP_056969 O94913 PCF11_HUMAN pre-mRNA cleavage complex II protein Pcf11 37 CID. mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage factor complex ovary(1) 1 AGCCGCACATCAATATGCTGA 0.597000 SIK3 23387 broad.mit.edu 37 11 116730231 116730231 + Missense_Mutation SNP C C T TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 g.chr11:116730231C>T uc001ppy.2 - 19 2233 c.2197G>A c.(2197-2199)GTG>ATG p.V733M SIK3_uc001ppz.2_Missense_Mutation_p.V632M|SIK3_uc001pqa.2_Missense_Mutation_p.V733M|SIK3_uc001ppw.2_Missense_Mutation_p.V150M|SIK3_uc001ppx.2_Missense_Mutation_p.V171M|SIK3_uc001pqb.2_Missense_Mutation_p.V36M NM_025164 NP_079440 Q9Y2K2 SIK3_HUMAN serine/threonine-protein kinase QSK 733 Gln-rich. cytoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity ovary(4)|breast(3)|stomach(2)|lung(1)|skin(1)|kidney(1) 12 GTTAGTGCCACGTTGGGAGGA 0.542000 OREG0003491 type=REGULATORY REGION|Gene=AK022302|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay VWF 7450 broad.mit.edu 37 12 6128084 6128084 + Silent SNP C C T TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 g.chr12:6128084C>T uc001qnn.1 - 28 4750 c.4500G>A c.(4498-4500)GCG>GCA p.A1500A VWF_uc010set.1_Intron NM_000552 NP_000543 P04275 VWF_HUMAN von Willebrand factor preproprotein 1500 VWFA 2. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1) 12 Antihemophilic Factor(DB00025) CCAGGACGAACGCCACATCCA 0.587000 FREM2 341640 broad.mit.edu 37 13 39264487 39264487 + Silent SNP G G A TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 g.chr13:39264487G>A uc001uwv.2 + 1 3315 c.3006G>A c.(3004-3006)GAG>GAA p.E1002E NM_207361 NP_997244 Q5SZK8 FREM2_HUMAN FRAS1-related extracellular matrix protein 2 1002 CSPG 6.|Extracellular (Potential). cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 11 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) TTCCAGCAGAGCAGTTTACTC 0.453000 C14orf106 55320 broad.mit.edu 37 14 45693557 45693557 + Missense_Mutation SNP T T C TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 g.chr14:45693557T>C uc001wwf.2 - 11 2692 c.2233A>G c.(2233-2235)ACC>GCC p.T745A NM_018353 NP_060823 Q6P0N0 M18BP_HUMAN chromosome 14 open reading frame 106 745 cell division|CenH3-containing nucleosome assembly at centromere|mitosis chromosome, centromeric region|nucleoplasm DNA binding 0 AATAGTCTGGTATTTTTCTTA 0.343000 SMAD3 4088 broad.mit.edu 37 15 67479784 67479784 + Missense_Mutation SNP A A G TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 g.chr15:67479784A>G uc002aqj.2 + 8 1389 c.1091A>G c.(1090-1092)TAC>TGC p.Y364C SMAD3_uc010ujr.1_Missense_Mutation_p.Y259C|SMAD3_uc010ujs.1_Missense_Mutation_p.Y320C|SMAD3_uc010ujt.1_Missense_Mutation_p.Y169C NM_005902 NP_005893 P84022 SMAD3_HUMAN mothers against decapentaplegic homolog 3 364 MH2. activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing cytosol|nuclear inner membrane|receptor complex beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding large_intestine(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1) 5 Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125) GAGGCTGTCTACCAGTTGACC 0.557000 HAPLN3 145864 broad.mit.edu 37 15 89421430 89421430 + Missense_Mutation SNP G G A TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 g.chr15:89421430G>A uc002bnc.2 - 5 982 c.854C>T c.(853-855)GCC>GTC p.A285V HAPLN3_uc002bne.2_RNA|HAPLN3_uc002bnd.2_Missense_Mutation_p.A347V NM_178232 NP_839946 Q96S86 HPLN3_HUMAN hyaluronan and proteoglycan link protein 3 285 Link 2. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding 0 Lung NSC(78;0.0392)|all_lung(78;0.077) TTCCTGGCAGGCCTCCCTTGC 0.652000 ALDH1A3 220 broad.mit.edu 37 15 101447328 101447328 + Missense_Mutation SNP T T G TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 g.chr15:101447328T>G uc002bwn.3 + 11 1340 c.1236T>G c.(1234-1236)ATT>ATG p.I412M ALDH1A3_uc010bpb.2_Missense_Mutation_p.I305M|uc002bwo.1_Intron NM_000693 NP_000684 P47895 AL1A3_HUMAN aldehyde dehydrogenase 1A3 412 retinal metabolic process cytoplasm aldehyde dehydrogenase|protein homodimerization activity central_nervous_system(2)|lung(1)|pancreas(1) 4 Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103) NADH(DB00157)|Vitamin A(DB00162) AATCATAGATTTTCGGGCCAG 0.408000 SLC7A6 9057 broad.mit.edu 37 16 68330347 68330347 + Missense_Mutation SNP C C A rs149574667 TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 g.chr16:68330347C>A uc002evt.1 + 10 1509 c.1200C>A c.(1198-1200)TTC>TTA p.F400L SLC7A6_uc002evu.1_Missense_Mutation_p.F400L|SLC7A6_uc002evv.1_RNA|SLC7A6_uc010cfc.1_RNA NM_001076785 NP_001070253 Q92536 YLAT2_HUMAN solute carrier family 7 (cationic amino acid 400 Helical; (Potential). blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly basolateral plasma membrane|integral to plasma membrane amino acid transmembrane transporter activity|antiporter activity central_nervous_system(1) 1 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948) ACTGGTTCTTCGTGGGCCTGT 0.577000 CDH1 999 broad.mit.edu 37 16 68844172 68844172 + Missense_Mutation SNP G G T TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 g.chr16:68844172G>T uc002ewg.1 + 6 884 c.760G>T c.(760-762)GAT>TAT p.D254Y CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Missense_Mutation_p.D254Y NM_004360 NP_004351 P12830 CADH1_HUMAN cadherin 1, type 1 preproprotein 254 Cadherin 1.|Extracellular (Potential). adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm cell adhesion molecule binding|gamma-catenin binding p.?(2)|p.D254fs*9(1)|p.D254H(1)|p.D254Y(1) breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1) 243 all_neural(199;0.0189)|Ovarian(137;0.0563) Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261) CACGGTAACCGATCAGAATGA 0.468000 Mis|N|F|S lobular breast|gastric gastric Hereditary_Diffuse_Gastric_Cancer GAN 8139 broad.mit.edu 37 16 81399030 81399030 + Silent SNP G G A TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 g.chr16:81399030G>A uc002fgo.2 + 9 1597 c.1449G>A c.(1447-1449)CAG>CAA p.Q483Q NM_022041 NP_071324 Q9H2C0 GAN_HUMAN gigaxonin 483 Kelch 5. cell death cytoplasm|neurofilament protein binding ovary(2) 2 Colorectal(91;0.153) AGGACGCCCAGGGTAGCGAGA 0.488000 SLC13A5 284111 broad.mit.edu 37 17 6607292 6607292 + Missense_Mutation SNP A A T TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 g.chr17:6607292A>T uc002gdj.2 - 4 540 c.452T>A c.(451-453)ATC>AAC p.I151N SLC13A5_uc010vtf.1_Missense_Mutation_p.I151N|SLC13A5_uc010clq.2_Missense_Mutation_p.I108N|SLC13A5_uc002gdk.2_Missense_Mutation_p.I134N|SLC13A5_uc002gdl.1_Missense_Mutation_p.I133N NM_177550 NP_808218 Q86YT5 S13A5_HUMAN solute carrier family 13, member 5 isoform a 151 integral to membrane citrate transmembrane transporter activity 0 GGCCTCCACGATGGGCACCAT 0.632000 RGS9 8787 broad.mit.edu 37 17 63221598 63221598 + Missense_Mutation SNP T T C TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 g.chr17:63221598T>C uc002jfe.2 + 18 1996 c.1886T>C c.(1885-1887)GTA>GCA p.V629A RGS9_uc010dem.2_Missense_Mutation_p.V626A|RGS9_uc002jfd.2_Missense_Mutation_p.V626A|RGS9_uc002jff.2_RNA|RGS9_uc002jfg.2_Missense_Mutation_p.V400A NM_003835 NP_003826 O75916 RGS9_HUMAN regulator of G-protein signaling 9 isoform 1 629 intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity ovary(2)|skin(2) 4 TCCAAGAGAGTAGCAAAGTAA 0.607000 DCC 1630 broad.mit.edu 37 18 50592506 50592506 + Missense_Mutation SNP A A G TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 g.chr18:50592506A>G uc002lfe.1 + 7 1818 c.1231A>G c.(1231-1233)ACC>GCC p.T411A DCC_uc010xdr.1_Missense_Mutation_p.T259A|DCC_uc010dpf.1_Missense_Mutation_p.T66A NM_005215 NP_005206 P43146 DCC_HUMAN netrin receptor DCC precursor 411 Extracellular (Potential).|Ig-like C2-type 4. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 17 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) AAATGCCCAGACCAGTGCACA 0.443000 EEF2 1938 broad.mit.edu 37 19 3982022 3982022 + Missense_Mutation SNP T T C TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 g.chr19:3982022T>C uc002lze.2 - 6 903 c.820A>G c.(820-822)AGC>GGC p.S274G NM_001961 NP_001952 P13639 EF2_HUMAN eukaryotic translation elongation factor 2 274 cytosol|ribonucleoprotein complex GTP binding|GTPase activity|protein binding|translation elongation factor activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18) GCTGACTTGCTGAACTTGCCG 0.602000 ZNF93 81931 broad.mit.edu 37 19 20045214 20045214 + Missense_Mutation SNP G G A TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 g.chr19:20045214G>A uc002non.2 + 4 1561 c.1450G>A c.(1450-1452)GAA>AAA p.E484K NM_031218 NP_112495 P35789 ZNF93_HUMAN zinc finger protein 93 484 C2H2-type 13. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding pancreas(1) 1 CTACAAATGTGAAGAATGTGG 0.383000 RBM42 79171 broad.mit.edu 37 19 36128216 36128216 + Missense_Mutation SNP A A G TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 g.chr19:36128216A>G uc002oan.2 + 9 1368 c.1292A>G c.(1291-1293)GAC>GGC p.D431G RBM42_uc010eef.2_Missense_Mutation_p.D377G|RBM42_uc002oao.2_Missense_Mutation_p.D409G|RBM42_uc002oap.2_Missense_Mutation_p.D401G|RBM42_uc002oaq.2_Missense_Mutation_p.D402G|RBM42_uc010eeg.2_Intron NM_024321 NP_077297 Q9BTD8 RBM42_HUMAN RNA binding motif protein 42 431 Necessary for interaction with HNRNPK (By similarity).|RRM. cytoplasm|nucleus nucleotide binding|RNA binding 0 all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) AGCTTCAAGGACCCCAGCGAC 0.647000 SCN7A 6332 broad.mit.edu 37 2 167262220 167262220 + Missense_Mutation SNP C C T TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 g.chr2:167262220C>T uc002udu.1 - 25 5046 c.4919G>A c.(4918-4920)CGC>CAC p.R1640H NM_002976 NP_002967 Q01118 SCN7A_HUMAN sodium channel, voltage-gated, type VII, alpha 1640 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity large_intestine(1) 1 TCGCCTCAAGCGGTAATTTTT 0.368000 ELFN2 114794 broad.mit.edu 37 22 37771219 37771219 + Missense_Mutation SNP G G A TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 g.chr22:37771219G>A uc003asq.3 - 3 1142 c.356C>T c.(355-357)ACG>ATG p.T119M NM_052906 NP_443138 Q5R3F8 LRFN6_HUMAN leucine rich repeat containing 62 119 LRR 3.|Extracellular (Potential). cell surface|integral to membrane upper_aerodigestive_tract(1)|ovary(1) 2 Melanoma(58;0.0574) CATGCCCTCCGTCAGGTTGCT 0.622000 CARD10 29775 broad.mit.edu 37 22 37903838 37903838 + Missense_Mutation SNP G G C TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 g.chr22:37903838G>C uc003asx.1 - 6 1192 c.1189C>G c.(1189-1191)CAG>GAG p.Q397E CARD10_uc003ast.1_RNA|CARD10_uc003asw.1_Missense_Mutation_p.Q111E|CARD10_uc003asy.1_Missense_Mutation_p.Q397E NM_014550 NP_055365 Q9BWT7 CAR10_HUMAN caspase recruitment domain protein 10 397 Potential. activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis CBM complex receptor signaling complex scaffold activity upper_aerodigestive_tract(1)|lung(1)|breast(1)|ovary(1)|prostate(1)|kidney(1) 6 Melanoma(58;0.0574) GGGCTCACCTGGTCTCGCTCC 0.597000 HDAC10 83933 broad.mit.edu 37 22 50686482 50686482 + Missense_Mutation SNP C C A TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 g.chr22:50686482C>A uc003bkg.2 - 13 1547 c.1174G>T c.(1174-1176)GCA>TCA p.A392S HDAC10_uc003bke.2_Missense_Mutation_p.A118S|HDAC10_uc003bkf.2_Missense_Mutation_p.A118S|HDAC10_uc010hav.2_Missense_Mutation_p.A372S|HDAC10_uc003bkh.2_Missense_Mutation_p.A185S|HDAC10_uc003bki.2_Missense_Mutation_p.A342S|HDAC10_uc003bkj.2_RNA|HDAC10_uc003bkk.1_Missense_Mutation_p.A26S NM_032019 NP_114408 Q969S8 HDA10_HUMAN histone deacetylase 10 isoform 1 392 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|histone deacetylase complex|nucleus histone deacetylase activity|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific) 0 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) GGTGCAGATGCAGCTGCCTTA 0.652000 FAM3D 131177 broad.mit.edu 37 3 58625893 58625893 + Missense_Mutation SNP C C T TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 g.chr3:58625893C>T uc003dkq.2 - 7 631 c.334G>A c.(334-336)GCT>ACT p.A112T NM_138805 NP_620160 Q96BQ1 FAM3D_HUMAN family with sequence similarity 3, member D 112 negative regulation of insulin secretion extracellular region cytokine activity 0 BRCA - Breast invasive adenocarcinoma(55;0.000225)|Kidney(10;0.000667)|KIRC - Kidney renal clear cell carcinoma(10;0.000802)|OV - Ovarian serous cystadenocarcinoma(275;0.169) CCCAGCACAGCTCCCGTGGTT 0.532000 ACAD11 84129 broad.mit.edu 37 3 132350306 132350306 + Silent SNP C C T TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 g.chr3:132350306C>T uc003eov.3 - 6 1100 c.720G>A c.(718-720)GTG>GTA p.V240V ACAD11_uc003eoy.2_Silent_p.V240V NM_032169 NP_115545 Q709F0 ACD11_HUMAN putative acyl-CoA dehydrogenase 240 peroxisome acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|transferase activity, transferring phosphorus-containing groups ovary(1) 1 CCCAATCCAGCACTGCTATAA 0.343000 PDE4D 5144 broad.mit.edu 37 5 58273028 58273028 + Missense_Mutation SNP A A G TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 g.chr5:58273028A>G uc003jsa.2 - 12 1869 c.1697T>C c.(1696-1698)GTC>GCC p.V566A PDE4D_uc003jrx.2_Missense_Mutation_p.V430A|PDE4D_uc003jry.2_Missense_Mutation_p.V264A|PDE4D_uc003jrz.2_Missense_Mutation_p.V502A|PDE4D_uc003jsb.2_Missense_Mutation_p.V505A|PDE4D_uc003jrt.2_Missense_Mutation_p.V264A|PDE4D_uc003jru.2_Missense_Mutation_p.V342A|PDE4D_uc003jrv.2_Missense_Mutation_p.V436A|PDE4D_uc003jrw.2_Missense_Mutation_p.V444A|PDE4D_uc003jrs.2_Missense_Mutation_p.V275A NM_001104631 NP_001098101 Q08499 PDE4D_HUMAN phosphodiesterase 4D isoform 1 566 signal transduction cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(1)|central_nervous_system(1) 2 all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954) Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276) Adenosine monophosphate(DB00131)|Dyphylline(DB00651) GATGTCAATGACCATTTTCCT 0.338000 F2R 2149 broad.mit.edu 37 5 76029103 76029103 + Missense_Mutation SNP T T A TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 g.chr5:76029103T>A uc003ken.3 + 2 1318 c.1053T>A c.(1051-1053)TTT>TTA p.F351L NM_001992 NP_001983 P25116 PAR1_HUMAN coagulation factor II receptor precursor 351 Helical; Name=7; (Potential). activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein caveola|extracellular region|Golgi apparatus|integral to plasma membrane|platelet dense tubular network receptor binding|thrombin receptor activity ovary(3) 3 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129) all cancers(79;4.43e-43) Streptokinase(DB00086) CTGCCTACTTTGCCTACCTCC 0.488000 CDHR2 54825 broad.mit.edu 37 5 176017146 176017146 + Missense_Mutation SNP C C T TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 g.chr5:176017146C>T uc003mem.1 + 25 3340 c.3274C>T c.(3274-3276)CGG>TGG p.R1092W CDHR2_uc003men.1_Missense_Mutation_p.R1092W NM_017675 NP_060145 Q9BYE9 CDHR2_HUMAN protocadherin LKC precursor 1092 Extracellular (Potential). homophilic cell adhesion|negative regulation of cell growth apical plasma membrane|cell junction|integral to membrane calcium ion binding|protein binding ovary(2) 2 TTCTGCAGCTCGGTGAGTGCC 0.587000 IRF4 3662 broad.mit.edu 37 6 401655 401655 + Missense_Mutation SNP C C T TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 g.chr6:401655C>T uc003msz.3 + 7 1090 c.977C>T c.(976-978)GCG>GTG p.A326V IRF4_uc010jne.1_Missense_Mutation_p.A326V|IRF4_uc003mta.3_RNA|IRF4_uc003mtb.3_Missense_Mutation_p.A325V|IRF4_uc003mtc.1_Missense_Mutation_p.A156V NM_002460 NP_002451 Q15306 IRF4_HUMAN interferon regulatory factor 4 326 interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway cytoplasm DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding ovary(1) 1 Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702) GGGCTCTATGCGAAAAGACTG 0.602000 T IGH@ MM ORC3L 23595 broad.mit.edu 37 6 88318928 88318928 + Missense_Mutation SNP G G C TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 g.chr6:88318928G>C uc003pmh.2 + 7 738 c.694G>C c.(694-696)GAC>CAC p.D232H ORC3L_uc011dzl.1_Missense_Mutation_p.D232H|ORC3L_uc011dzm.1_Missense_Mutation_p.D232H|ORC3L_uc011dzn.1_RNA|ORC3L_uc003pmg.2_Missense_Mutation_p.D232H|ORC3L_uc003pmi.2_Missense_Mutation_p.D232H|ORC3L_uc011dzo.1_Missense_Mutation_p.D89H|ORC3L_uc011dzp.1_Missense_Mutation_p.D89H NM_012381 NP_036513 Q9UBD5 ORC3_HUMAN origin recognition complex, subunit 3 isoform 2 232 cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle nuclear origin of replication recognition complex|nucleoplasm DNA replication origin binding|protein binding 0 all_cancers(76;9.05e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000114) BRCA - Breast invasive adenocarcinoma(108;0.0469) AGTACTACAAGACTTCATAAT 0.348000 AMZ1 155185 broad.mit.edu 37 7 2740225 2740225 + Missense_Mutation SNP C C T TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 g.chr7:2740225C>T uc003smr.1 + 2 501 c.140C>T c.(139-141)GCC>GTC p.A47V AMZ1_uc003sms.1_Missense_Mutation_p.A47V|AMZ1_uc011jwa.1_5'Flank NM_133463 NP_597720 Q400G9 AMZ1_HUMAN archaelysin family metallopeptidase 1 47 metallopeptidase activity|zinc ion binding 0 Ovarian(82;0.0779) OV - Ovarian serous cystadenocarcinoma(56;5.03e-14) CTGGCCGAGGCCTACAACCCG 0.667000 PLXNA4 91584 broad.mit.edu 37 7 131883272 131883272 + Missense_Mutation SNP A A C TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 g.chr7:131883272A>C uc003vra.3 - 13 2939 c.2710T>G c.(2710-2712)TTA>GTA p.L904V NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN plexin A4 isoform 1 904 IPT/TIG 1.|Extracellular (Potential). integral to membrane|intracellular|plasma membrane ovary(1) 1 CCATCCACTAAAGGGCTGCAC 0.562000 SSPO 23145 broad.mit.edu 37 7 149498906 149498906 + Missense_Mutation SNP C C A TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 g.chr7:149498906C>A uc010lpk.2 + 51 7358 c.7358C>A c.(7357-7359)GCC>GAC p.A2453D NM_198455 NP_940857 A2VEC9 SSPO_HUMAN SCO-spondin precursor 2453 cell adhesion extracellular space peptidase inhibitor activity 0 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CCTACCATGGCCCTGCCTGGG 0.622000 PENK 5179 broad.mit.edu 37 8 57354302 57354302 + Missense_Mutation SNP C C A TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 g.chr8:57354302C>A uc003xsz.2 - 2 414 c.333G>T c.(331-333)ATG>ATT p.M111I PENK_uc003xta.3_Missense_Mutation_p.M111I NM_006211 NP_006202 P01210 PENK_HUMAN proenkephalin 111 neuropeptide signaling pathway extracellular region neuropeptide hormone activity|opioid peptide activity ovary(2)|central_nervous_system(1)|skin(1) 4 all_lung(136;0.229) Epithelial(17;0.000873)|all cancers(17;0.0069) CCATTTTCTTCATGAAGCCTC 0.488000 SULF1 23213 broad.mit.edu 37 8 70488242 70488242 + Missense_Mutation SNP G G A TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 g.chr8:70488242G>A uc010lza.1 + 6 927 c.210G>A c.(208-210)ATG>ATA p.M70I SULF1_uc003xyd.2_Missense_Mutation_p.M70I|SULF1_uc003xye.2_Missense_Mutation_p.M70I|SULF1_uc003xyf.2_Missense_Mutation_p.M70I|SULF1_uc003xyg.2_Missense_Mutation_p.M70I NM_015170 NP_055985 Q8IWU6 SULF1_HUMAN sulfatase 1 precursor 70 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1) 7 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) GAAAGATTATGGAACATGGGG 0.498000 ZNF572 137209 broad.mit.edu 37 8 125989941 125989941 + Silent SNP C C T TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 g.chr8:125989941C>T uc003yrr.2 + 3 1586 c.1431C>T c.(1429-1431)TTC>TTT p.F477F NM_152412 NP_689625 Q7Z3I7 ZN572_HUMAN zinc finger protein 572 477 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205) AGAAATGCTTCAGCAGAAGTG 0.458000 HNSCC(60;0.17) MLLT3 4300 broad.mit.edu 37 9 20346483 20346483 + Silent SNP G G A TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 g.chr9:20346483G>A uc003zoe.2 - 11 1924 c.1665C>T c.(1663-1665)GTC>GTT p.V555V MLLT3_uc011lne.1_Silent_p.V523V|MLLT3_uc011lnf.1_Silent_p.V552V NM_004529 NP_004520 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia 555 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding lung(2)|ovary(1) 3 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) GTAGTTTACGGACTGTGGTTT 0.353000 T MLL ALL TOPORS 10210 broad.mit.edu 37 9 32543727 32543727 + Missense_Mutation SNP C C G TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 g.chr9:32543727C>G uc003zrb.2 - 3 963 c.796G>C c.(796-798)GGT>CGT p.G266R TOPORS_uc003zrc.2_Missense_Mutation_p.G199R NM_005802 NP_005793 Q9NS56 TOPRS_HUMAN topoisomerase I binding, arginine/serine-rich 266 Required for DNA-binding. DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent nuclear speck|PML body antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.0018) ACTCGAGCACCAGCACGATAA 0.413000 DBC1 1620 broad.mit.edu 37 9 121929759 121929759 + Missense_Mutation SNP C C T rs151087333 TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 g.chr9:121929759C>T uc004bkc.2 - 8 2345 c.1889G>A c.(1888-1890)CGA>CAA p.R630Q NM_014618 NP_055433 O60477 DBC1_HUMAN deleted in bladder cancer 1 precursor 630 cell cycle arrest|cell death cytoplasm protein binding p.R630Q(1) skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1) 8 AGTCTCATTTCGCAGTAGGGT 0.537000 CLCN5 1184 broad.mit.edu 37 X 49834605 49834605 + Missense_Mutation SNP C C A TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 g.chrX:49834605C>A uc004dos.1 + 2 273 c.25C>A c.(25-27)CCT>ACT p.P9T CLCN5_uc004dor.1_Missense_Mutation_p.P79T|CLCN5_uc004doq.1_Missense_Mutation_p.P79T|CLCN5_uc004dot.1_Missense_Mutation_p.P9T NM_000084 NP_000075 P51795 CLCN5_HUMAN chloride channel 5 isoform b 9 Cytoplasmic (By similarity). excretion apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane antiporter activity|ATP binding ovary(2)|lung(1)|central_nervous_system(1) 4 Ovarian(276;0.236) GGAGCCAATCCCTGGTGTAGG 0.438000 MAGED1 9500 broad.mit.edu 37 X 51640687 51640687 + Missense_Mutation SNP G G A TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 g.chrX:51640687G>A uc004dpm.2 + 6 1626 c.1531G>A c.(1531-1533)GAA>AAA p.E511K MAGED1_uc004dpn.2_Missense_Mutation_p.E567K|MAGED1_uc004dpo.2_Missense_Mutation_p.E511K NM_001005332 NP_001005332 Q9Y5V3 MAGD1_HUMAN melanoma antigen family D, 1 isoform b 511 MAGE. apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent cytoplasm|plasma membrane|protein complex protein binding ovary(3) 3 Ovarian(276;0.236) TGTTTATCCAGAAATCATTGA 0.493000 Multiple Myeloma(10;0.10) ATRX 546 broad.mit.edu 37 X 76937284 76937284 + Nonsense_Mutation SNP G G C TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 g.chrX:76937284G>C uc004ecp.3 - 9 3696 c.3464C>G c.(3463-3465)TCA>TGA p.S1155* ATRX_uc004ecq.3_Nonsense_Mutation_p.S1117*|ATRX_uc004eco.3_Nonsense_Mutation_p.S940*|ATRX_uc004ecr.2_Nonsense_Mutation_p.S1087*|ATRX_uc010nlx.1_Nonsense_Mutation_p.S1126*|ATRX_uc010nly.1_Nonsense_Mutation_p.S1100* NM_000489 NP_000480 P46100 ATRX_HUMAN transcriptional regulator ATRX isoform 1 1155 Poly-Ser. DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1) 30 Phosphatidylserine(DB00144) AGCATCAGATGATGATGAGCC 0.333000 Mis|F|N Pancreatic neuroendocrine tumors ATR-X (alpha thalassemia/mental retardation) syndrome FMR1 2332 broad.mit.edu 37 X 147007065 147007065 + Missense_Mutation SNP C C G TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 g.chrX:147007065C>G uc010nst.2 + 3 301 c.112C>G c.(112-114)CCT>GCT p.P38A FMR1_uc011mwz.1_Missense_Mutation_p.P38A|FMR1_uc004fcj.2_Missense_Mutation_p.P38A|FMR1_uc004fck.3_Missense_Mutation_p.P38A|FMR1_uc004fcl.3_5'Flank NM_002024 NP_002015 Q06787 FMR1_HUMAN fragile X mental retardation 1 38 mRNA transport|negative regulation of translational initiation cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction mRNA binding|protein binding ovary(2)|pancreas(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) CAGCTGGCAGCCTGATAGGCA 0.368000 Fragile_X_syndrome RTN4RL2 349667 broad.mit.edu 37 11 57244172 57244175 + Frame_Shift_Del DEL CTGC CTGC - TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 g.chr11:57244172_57244175delCTGC uc010rjt.1 + 3 1051_1054 c.1051_1054delCTGC c.(1051-1056)CTGCCTfs p.L351fs NM_178570 NP_848665 Q86UN3 R4RL2_HUMAN reticulon 4 receptor-like 2 precursor 351_352 axon regeneration anchored to plasma membrane receptor activity 0 CTACCGAGATCTGCCTGCCGAAGA 0.632 INTS6 26512 broad.mit.edu 37 13 51956203 51956203 + Frame_Shift_Del DEL C C - TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 g.chr13:51956203delC uc001vfk.2 - 10 1851 c.1237delG c.(1237-1239)GAAfs p.E413fs INTS6_uc001vfi.2_Frame_Shift_Del_p.E97fs|INTS6_uc001vfj.2_Frame_Shift_Del_p.E400fs|INTS6_uc001vfl.2_Frame_Shift_Del_p.E235fs NM_012141 NP_036273 Q9UL03 INT6_HUMAN integrator complex subunit 6 isoform a 413 snRNA processing actin cytoskeleton|integrator complex protein binding|transmembrane receptor activity ovary(1)|lung(1) 2 Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;7.7e-08) AAATAACTTTCAAATGACTGT 0.259 PRB2 653247 broad.mit.edu 37 12 11546419 11546421 + In_Frame_Del DEL GGA GGA - TCGA-BR-8058-01A-31D-2340-08 TCGA-BR-8058-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx bd9d9fd4-0aff-4a7d-982f-d87fa38ca5b0 aee74947-0273-4f36-af55-09bc0df09fb1 g.chr12:11546418_11546420TGGA>T uc010shk.1 - 2 627_629 c.592_594TCCA>A c.(592-594)cca>A p.P198del NM_006248 NP_006239 Homo sapiens proline-rich protein BstNI subfamily 2 (PRB2), mRNA. NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1) 37 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) GTGGCTTTCCTGGAGGAGGTGGG 0.586