Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content ACHILLES_Top_Genes CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut AKR7A3 22977 broad.mit.edu 37 1 19612764 19612764 + Missense_Mutation SNP C C T TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr1:19612764C>T uc001bbv.1 - 2 394 c.317G>A c.(316-318)CGA>CAA p.R106Q NM_012067 NP_036199 O95154 ARK73_HUMAN aldo-keto reductase family 7, member A3 106 cellular aldehyde metabolic process cytosol aldo-keto reductase (NADP) activity|electron carrier activity 0 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) GAGGTCCACTCGGGGACACTG 0.592 NA 15 77 0 0 0.020292 0 0 SPOCD1 90853 broad.mit.edu 37 1 32263879 32263879 + Missense_Mutation SNP G G T TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr1:32263879G>T uc001bts.1 - 9 2132 c.2074C>A c.(2074-2076)CTG>ATG p.L692M SPOCD1_uc001btt.2_Translation_Start_Site|SPOCD1_uc001btu.2_Missense_Mutation_p.L692M|SPOCD1_uc001btv.2_Missense_Mutation_p.L185M|SPOCD1_uc001btw.1_Missense_Mutation_p.L36M NM_144569 NP_653170 Q6ZMY3 SPOC1_HUMAN SPOC domain containing 1 692 TFIIS central. transcription, DNA-dependent ovary(5)|breast(1) 6 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199) STAD - Stomach adenocarcinoma(196;0.18) ATCCGCACCAGGTCGTAGGGG 0.612 NA 16 80 2.31682e-05 2.6916e-05 0.003163 1 0 MCOLN3 55283 broad.mit.edu 37 1 85487776 85487776 + Missense_Mutation SNP C C T TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr1:85487776C>T uc001dkp.2 - 11 1390 c.1297G>A c.(1297-1299)GTG>ATG p.V433M MCOLN3_uc001dko.2_Missense_Mutation_p.V52M|MCOLN3_uc001dkq.2_Missense_Mutation_p.V377M NM_018298 NP_060768 Q8TDD5 MCLN3_HUMAN mucolipin 3 433 Helical; (Potential). integral to membrane ion channel activity skin(1) 1 all cancers(265;0.00957)|Epithelial(280;0.0254) GGCCCCAGCACGATCCATCCA 0.448 NA 6 76 0 0 0.001984 0 0 HIST2H2AB 317772 broad.mit.edu 37 1 149859288 149859288 + Missense_Mutation SNP G G C TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr1:149859288G>C uc001ete.2 - 1 179 c.179C>G c.(178-180)ACC>AGC p.T60S HIST2H2BE_uc001etc.2_5'Flank NM_175065 NP_778235 Q8IUE6 H2A2B_HUMAN histone cluster 2, H2ab 60 nucleosome assembly nucleosome|nucleus DNA binding ovary(1)|breast(1) 2 Breast(34;0.0124)|all_hematologic(923;0.127) STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221) AATTTCCGCGGTCAGGTACTC 0.662 NA 12 83 0 0 0.013537 0 0 KLHL20 27252 broad.mit.edu 37 1 173735414 173735414 + Silent SNP C C T TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr1:173735414C>T uc001gjc.2 + 8 1460 c.1281C>T c.(1279-1281)CTC>CTT p.L427L KLHL20_uc010pmr.1_Silent_p.L238L|KLHL20_uc009wwf.2_Silent_p.L409L NM_014458 NP_055273 Q9Y2M5 KLH20_HUMAN kelch-like 20 427 Kelch 3. cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body actin binding|interferon-gamma binding|ubiquitin-protein ligase activity ovary(1) 1 TGTCTTGCCTCAACATTGTTG 0.383 GBM(159;862 2695 6559 23041) NA 9 145 0 0 0.004482 0 0 GPR52 9293 broad.mit.edu 37 1 174417353 174417353 + Missense_Mutation SNP G G C TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr1:174417353G>C uc001gka.1 + 1 142 c.104G>C c.(103-105)AGT>ACT p.S35T RABGAP1L_uc001gjw.2_Intron|RABGAP1L_uc001gjx.2_Intron|RABGAP1L_uc001gjy.2_Intron|RABGAP1L_uc001gjz.2_Intron NM_005684 NP_005675 Q9Y2T5 GPR52_HUMAN G protein-coupled receptor 52 35 Extracellular (Potential). integral to plasma membrane G-protein coupled receptor activity skin(1) 1 GGCCACTACAGTGTGGTGGAT 0.463 Ovarian(92;924 1390 1930 16467 40583) NA 10 57 0 0 0.006214 0 0 FAM5C 339479 broad.mit.edu 37 1 190068056 190068056 + Missense_Mutation SNP T T A TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr1:190068056T>A uc001gse.1 - 8 1625 c.1393A>T c.(1393-1395)ACC>TCC p.T465S FAM5C_uc010pot.1_Missense_Mutation_p.T363S NM_199051 NP_950252 Q76B58 FAM5C_HUMAN family with sequence similarity 5, member C 465 extracellular region lung(2)|ovary(1)|kidney(1)|skin(1) 5 Prostate(682;0.198) ATGTAGCCGGTGTTGCAGGTG 0.607 NA 9 124 0 0 0.008291 0 0 FAIM3 9214 broad.mit.edu 37 1 207085276 207085276 + Missense_Mutation SNP C C T TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr1:207085276C>T uc001hey.2 - 4 688 c.509G>A c.(508-510)GGC>GAC p.G170D FAIM3_uc010prz.1_Missense_Mutation_p.G58D|FAIM3_uc010psa.1_Missense_Mutation_p.G79D|FAIM3_uc010psb.1_Missense_Mutation_p.G170D NM_005449 NP_005440 O60667 FAIM3_HUMAN Fas apoptotic inhibitory molecule 3 isoform a 170 Extracellular (Potential). anti-apoptosis|cellular defense response integral to membrane central_nervous_system(1) 1 Breast(84;0.201) AGGGACCTTGCCCCTTTGAGC 0.438 NA OREG0014185 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 51 0 0 0.009096 0 0 PPP2R5A 5525 broad.mit.edu 37 1 212521742 212521742 + Missense_Mutation SNP G G C TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr1:212521742G>C uc001hjb.2 + 7 1350 c.776G>C c.(775-777)GGC>GCC p.G259A PPP2R5A_uc010ptd.1_Missense_Mutation_p.G200A NM_006243 NP_006234 Q15172 2A5A_HUMAN protein phosphatase 2, regulatory subunit B 259 negative regulation of establishment of protein localization in plasma membrane|negative regulation of lipid kinase activity|positive regulation of protein dephosphorylation|signal transduction chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex kinase binding|protein phosphatase type 2A regulator activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155) ATTATCAATGGCTTTGCATTG 0.373 NA 3 70 0 0 0.009096 0 0 NLRP3 114548 broad.mit.edu 37 1 247588806 247588806 + Missense_Mutation SNP G G C TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr1:247588806G>C uc001icr.2 + 5 2199 c.2061G>C c.(2059-2061)ATG>ATC p.M687I NLRP3_uc001ics.2_Missense_Mutation_p.M687I|NLRP3_uc001icu.2_Missense_Mutation_p.M687I|NLRP3_uc001icw.2_Missense_Mutation_p.M687I|NLRP3_uc001icv.2_Missense_Mutation_p.M687I|NLRP3_uc010pyw.1_Missense_Mutation_p.M685I|NLRP3_uc001ict.1_Missense_Mutation_p.M685I NM_001079821 NP_001073289 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 isoform a 687 detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1) 26 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) TCCATAACATGCCCAAGGAGG 0.512 NA 6 70 0 0 0.001168 0 0 OR2M7 391196 broad.mit.edu 37 1 248487204 248487204 + Missense_Mutation SNP G G C TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr1:248487204G>C uc010pzk.1 - 1 667 c.667C>G c.(667-669)CTG>GTG p.L223V NM_001004691 NP_001004691 Q8NG81 OR2M7_HUMAN olfactory receptor, family 2, subfamily M, 223 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) ATGACAGCCAGAATAACTCGA 0.423 NA 5 409 0 0 0.001168 0 0 OR2T11 127077 broad.mit.edu 37 1 248790051 248790051 + Silent SNP G G A TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr1:248790051G>A uc001ier.1 - 1 379 c.379C>T c.(379-381)CTG>TTG p.L127L NM_001001964 NP_001001964 Q8NH01 O2T11_HUMAN olfactory receptor, family 2, subfamily T, 127 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity lung(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GGGTATCTCAGAGGGTTACAG 0.547 NA 5 83 0 0 0.014758 0 0 MYST4 23522 broad.mit.edu 37 10 76788256 76788256 + Missense_Mutation SNP A A G TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr10:76788256A>G uc001jwn.1 + 18 4167 c.3674A>G c.(3673-3675)AAT>AGT p.N1225S MYST4_uc001jwo.1_Missense_Mutation_p.N933S|MYST4_uc001jwp.1_Missense_Mutation_p.N1042S NM_012330 NP_036462 Q8WYB5 MYST4_HUMAN MYST histone acetyltransferase (monocytic 1225 histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1) 16 all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964) GACAATATGAATGATGATTCA 0.373 NA T CREBBP AML 7 122 0 0 0.006214 0 0 KCNMA1 3778 broad.mit.edu 37 10 78674704 78674704 + Silent SNP G G A TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr10:78674704G>A uc001jxn.2 - 24 3183 c.3006C>T c.(3004-3006)ATC>ATT p.I1002I KCNMA1_uc001jxj.2_Silent_p.I948I|KCNMA1_uc001jxk.1_Silent_p.I620I|KCNMA1_uc009xrt.1_Silent_p.I793I|KCNMA1_uc001jxl.1_Silent_p.I627I|KCNMA1_uc001jxo.2_Silent_p.I985I|KCNMA1_uc001jxm.2_Silent_p.I944I|KCNMA1_uc001jxq.2_Silent_p.I947I NM_001161352 NP_001154824 Q12791 KCMA1_HUMAN large conductance calcium-activated potassium 1002 Cytoplasmic (Potential). cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity pancreas(2)|ovary(1) 3 all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198) OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183) Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021) CTAGTTCAGTGATGATGGGGA 0.473 NA 10 233 0 0 0.020292 0 0 SORCS1 114815 broad.mit.edu 37 10 108366980 108366980 + Missense_Mutation SNP G G T TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr10:108366980G>T uc001kym.2 - 23 3117 c.3109C>A c.(3109-3111)CTA>ATA p.L1037I SORCS1_uc001kyl.2_Missense_Mutation_p.L1037I|SORCS1_uc009xxs.2_Missense_Mutation_p.L1037I|SORCS1_uc001kyn.1_Missense_Mutation_p.L1037I|SORCS1_uc001kyo.2_Missense_Mutation_p.L1037I NM_052918 NP_443150 Q8WY21 SORC1_HUMAN SORCS receptor 1 isoform a 1037 Lumenal (Potential). integral to membrane neuropeptide receptor activity|protein binding breast(1)|central_nervous_system(1) 2 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) TGATAGGGTAGGACAAAGAGT 0.562 NA 10 70 4.3838e-07 5.24728e-07 0.016723 1 0 PNLIP 5406 broad.mit.edu 37 10 118306827 118306827 + Missense_Mutation SNP G G A TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr10:118306827G>A uc001lcm.2 + 3 111 c.68G>A c.(67-69)AGA>AAA p.R23K NM_000936 NP_000927 P16233 LIPP_HUMAN pancreatic lipase precursor 23 lipid catabolic process|retinoid metabolic process|steroid metabolic process extracellular region retinyl-palmitate esterase activity|triglyceride lipase activity ovary(1)|central_nervous_system(1)|skin(1) 3 all cancers(201;0.0131) Bentiromide(DB00522)|Orlistat(DB01083) TGCTACGAAAGACTCGGCTGC 0.428 NA 7 82 0 0 0.00308 0 0 BAG3 9531 broad.mit.edu 37 10 121431869 121431869 + Missense_Mutation SNP G G T TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr10:121431869G>T uc001lem.2 + 3 916 c.610G>T c.(610-612)GGG>TGG p.G204W BAG3_uc001lel.2_Missense_Mutation_p.G204W NM_004281 NP_004272 O95817 BAG3_HUMAN BCL2-associated athanogene 3 204 anti-apoptosis|apoptosis|protein folding cytosol ovary(2) 2 Lung NSC(174;0.109)|all_lung(145;0.142) all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148) GCTCCCGCGGGGGTACATCTC 0.647 NA 13 68 4.36969e-10 5.39384e-10 0.016723 1 0 DPYSL4 10570 broad.mit.edu 37 10 134006229 134006229 + Missense_Mutation SNP C C G TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr10:134006229C>G uc009ybb.2 + 3 350 c.196C>G c.(196-198)CTT>GTT p.L66V NM_006426 NP_006417 O14531 DPYL4_HUMAN dihydropyrimidinase-like 4 66 axon guidance|pyrimidine base catabolic process cytosol hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides central_nervous_system(2) 2 all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19) OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206) CCTGATGGTCCTTCCTGGTGG 0.582 NA 3 64 0 0 0.004672 0 0 ADAM8 101 broad.mit.edu 37 10 135084565 135084565 + Missense_Mutation SNP C C A TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr10:135084565C>A uc010qva.1 - 13 1318 c.1267G>T c.(1267-1269)GCT>TCT p.A423S ADAM8_uc010quz.1_Missense_Mutation_p.A462S|ADAM8_uc009ybi.2_Missense_Mutation_p.A462S P78325 ADAM8_HUMAN SubName: Full=cDNA FLJ50704, highly similar to ADAM 8 (EC 3.4.24.-) (A disintegrinand metalloproteinase domain 8); 423 integrin-mediated signaling pathway|proteolysis metalloendopeptidase activity large_intestine(2)|central_nervous_system(1) 3 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05) AGCTCACCAGCCGGCTTCACC 0.657 NA 7 33 8.12818e-05 9.23923e-05 0.001984 1 0 RAG1 5896 broad.mit.edu 37 11 36597424 36597424 + Missense_Mutation SNP C C T TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr11:36597424C>T uc001mwu.3 + 2 2694 c.2570C>T c.(2569-2571)GCC>GTC p.A857V RAG1_uc001mwt.2_RNA NM_000448 NP_000439 P15918 RAG1_HUMAN recombination activating gene 1 857 histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination nucleus endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1) 5 all_lung(20;0.226) all_hematologic(20;0.107) GGCAACTTTGCCAGGAAGCTC 0.498 Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363) NA Familial_Hemophagocytic_Lymphohistiocytosis 4 84 0 0 0.009096 0 0 CD5 921 broad.mit.edu 37 11 60885646 60885646 + Splice_Site SNP G G C TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr11:60885646G>C uc009ynk.2 + 3 198 c.95_splice c.e3-1 p.D32_splice NM_014207 NP_055022 P06127 CD5_HUMAN CD5 molecule precursor cell proliferation|cell recognition integral to plasma membrane scavenger receptor activity ovary(1) 1 all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05) BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528) CTGACCCCCAGATTTCCAGGC 0.637 NA 5 94 0 0 0.001168 0 0 PLCB3 5331 broad.mit.edu 37 11 64021894 64021894 + Missense_Mutation SNP C C T TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr11:64021894C>T uc001nzb.2 + 2 107 c.107C>T c.(106-108)TCC>TTC p.S36F PLCB3_uc009ypg.1_Missense_Mutation_p.S36F|PLCB3_uc009yph.1_Intron|PLCB3_uc009ypi.2_Missense_Mutation_p.S36F NM_000932 NP_000923 Q01970 PLCB3_HUMAN phospholipase C beta 3 36 intracellular signal transduction|lipid catabolic process|synaptic transmission cytosol calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(1)|pancreas(1) 2 CAGGAGACCTCCAGTCGGAAC 0.652 NA 14 157 0 0 0.00499 0 0 CDC42BPG 55561 broad.mit.edu 37 11 64603314 64603314 + Missense_Mutation SNP G G C TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr11:64603314G>C uc001obs.3 - 14 1678 c.1678C>G c.(1678-1680)CAG>GAG p.Q560E NM_017525 NP_059995 Q6DT37 MRCKG_HUMAN CDC42 binding protein kinase gamma (DMPK-like) 560 Potential. actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|centrosome ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity lung(3)|central_nervous_system(1) 4 GAGGACACCTGGGCCTCCAGC 0.657 NA 4 7 0 0 0.014758 0 0 ODZ4 26011 broad.mit.edu 37 11 78413335 78413335 + Silent SNP G G T TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr11:78413335G>T uc001ozl.3 - 28 4786 c.4323C>A c.(4321-4323)GTC>GTA p.V1441V ODZ4_uc009yvb.1_Silent_p.V25V NM_001098816 NP_001092286 Q6N022 TEN4_HUMAN odz, odd Oz/ten-m homolog 4 1441 Extracellular (Potential).|NHL 4. signal transduction integral to membrane ovary(2)|pancreas(2) 4 GCCTCCCGGCGACAATGCGCA 0.567 NA 11 90 4.68919e-08 5.69917e-08 0.008291 1 0 NAALAD2 10003 broad.mit.edu 37 11 89883707 89883707 + Missense_Mutation SNP G G C TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr11:89883707G>C uc001pdf.3 + 5 650 c.541G>C c.(541-543)GAG>CAG p.E181Q NAALAD2_uc009yvx.2_Missense_Mutation_p.E181Q|NAALAD2_uc009yvy.2_Missense_Mutation_p.E181Q|NAALAD2_uc001pdd.2_Missense_Mutation_p.E181Q|NAALAD2_uc001pde.2_Missense_Mutation_p.E181Q NM_005467 NP_005458 Q9Y3Q0 NALD2_HUMAN N-acetylated alpha-linked acidic dipeptidase 2 181 Extracellular (Potential). proteolysis integral to membrane carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity pancreas(1)|skin(1) 2 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556) ACTAGAAAGAGAGATGGGCAT 0.318 NA 4 72 0 0 0.014758 0 0 C11orf1 64776 broad.mit.edu 37 11 111750308 111750308 + Silent SNP C C T TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr11:111750308C>T uc001pmd.2 + 1 361 c.24C>T c.(22-24)TGC>TGT p.C8C ALG9_uc010rwo.1_5'Flank|FDXACB1_uc009yyi.2_5'Flank|FDXACB1_uc001pmc.3_5'Flank|C11orf1_uc001pme.2_5'Flank NM_022761 NP_073598 Q9H5F2 CK001_HUMAN hypothetical protein LOC64776 8 nucleus 0 all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|Medulloblastoma(222;0.0228)|all_neural(223;0.0281) all cancers(92;6.28e-09)|Epithelial(105;4.11e-08)|OV - Ovarian serous cystadenocarcinoma(223;1.52e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06) AGTGTCTCTGCTGCTCAAAAT 0.348 NA 47 348 0 0 0.01441 0 0 C2CD2L 9854 broad.mit.edu 37 11 118984675 118984675 + Missense_Mutation SNP C C T TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr11:118984675C>T uc001pvo.2 + 12 1959 c.1600C>T c.(1600-1602)CTC>TTC p.L534F C2CD2L_uc001pvn.2_Missense_Mutation_p.L535F NM_014807 NP_055622 O14523 C2C2L_HUMAN transmembrane protein 24 534 integral to membrane 0 GCGCAGCACTCTCATCATCTC 0.587 NA 3 47 0 0 0.004672 0 0 A2ML1 144568 broad.mit.edu 37 12 9013866 9013866 + Missense_Mutation SNP C C A TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr12:9013866C>A uc001quz.3 + 28 3573 c.3475C>A c.(3475-3477)CAG>AAG p.Q1159K A2ML1_uc001qva.1_Missense_Mutation_p.Q739K|A2ML1_uc010sgm.1_Missense_Mutation_p.Q659K NM_144670 NP_653271 A8K2U0 A2ML1_HUMAN alpha-2-macroglobulin-like 1 precursor 1003 extracellular space endopeptidase inhibitor activity ovary(2)|skin(1) 3 TCTCCTTAAACAGTTAGATCA 0.438 NA 14 129 1.52009e-12 1.90615e-12 0.003163 1 0 RPL13AP20 387841 broad.mit.edu 37 12 13028751 13028751 + Missense_Mutation SNP G G C TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr12:13028751G>C uc010sho.1 + 1 341 c.319G>C c.(319-321)GGC>CGC p.G107R NR_003932 SubName: Full=Ribosomal protein L13a variant; Flags: Fragment; 0 GGTGTTTGACGGCATCCCACC 0.612 NA 3 21 0 0 0.004672 0 0 KRT3 3850 broad.mit.edu 37 12 53185017 53185017 + Missense_Mutation SNP C C T rs60410063 TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr12:53185017C>T uc001say.2 - 7 1574 c.1508G>A c.(1507-1509)CGC>CAC p.R503H NM_057088 NP_476429 P12035 K2C3_HUMAN keratin 3 503 Rod.|Coil 2. epithelial cell differentiation|intermediate filament cytoskeleton organization keratin filament structural molecule activity 0 CAGCAGCTTGCGGTAGGTGGC 0.607 NA 4 118 0 0 0.014758 0 0 PDE1B 5153 broad.mit.edu 37 12 54968993 54968993 + Missense_Mutation SNP C C G TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr12:54968993C>G uc001sgd.1 + 11 1342 c.1176C>G c.(1174-1176)TTC>TTG p.F392L PDE1B_uc010soz.1_Missense_Mutation_p.F255L|PDE1B_uc010spa.1_Missense_Mutation_p.F351L|PDE1B_uc001sgf.2_Missense_Mutation_p.F255L|PDE1B_uc001sge.2_Missense_Mutation_p.F372L|PDE1B_uc009znq.2_Missense_Mutation_p.F188L NM_000924 NP_000915 Q01064 PDE1B_HUMAN phosphodiesterase 1B isoform 1 392 Catalytic (By similarity). activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation cytosol|nucleus 3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding upper_aerodigestive_tract(1)|ovary(1) 2 TGGAGGAATTCTTCCGTCAGG 0.577 NA 3 102 0 0 0.009096 0 0 SRGAP1 57522 broad.mit.edu 37 12 64472704 64472704 + Silent SNP G G A TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr12:64472704G>A uc010ssp.1 + 9 1187 c.1131G>A c.(1129-1131)AAG>AAA p.K377K SRGAP1_uc001srt.2_Silent_p.K377K|SRGAP1_uc001srv.2_Silent_p.K337K NM_020762 NP_065813 Q7Z6B7 SRGP1_HUMAN SLIT-ROBO Rho GTPase activating protein 1 377 Potential. axon guidance cytosol ovary(2)|central_nervous_system(2) 4 GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225) GBM - Glioblastoma multiforme(28;0.0608) CCCAGGTTAAGAAAACGACTG 0.299 NA 3 44 0 0 0.004672 0 0 WIF1 11197 broad.mit.edu 37 12 65445189 65445189 + Silent SNP C C T rs148339341 TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr12:65445189C>T uc001ssk.2 - 10 1225 c.1080G>A c.(1078-1080)ACG>ACA p.T360T NM_007191 NP_009122 Q9Y5W5 WIF1_HUMAN WNT inhibitory factor 1 precursor 360 multicellular organismal development|Wnt receptor signaling pathway extracellular region protein tyrosine kinase activity ovary(2)|lung(1)|skin(1) 4 LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975) GBM - Glioblastoma multiforme(28;0.0231) TAAGTGAAGGCGTGTGCTGCC 0.493 Esophageal Squamous(148;1595 1816 48559 49439 49664) NA T HMGA2 pleomorphic salivary gland adenoma 10 52 0 0 0.008291 0 0 UHRF1BP1L 23074 broad.mit.edu 37 12 100453666 100453666 + Nonsense_Mutation SNP C C A TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr12:100453666C>A uc001tgq.2 - 13 1934 c.1705G>T c.(1705-1707)GAG>TAG p.E569* UHRF1BP1L_uc001tgp.2_Nonsense_Mutation_p.E219* NM_015054 NP_055869 A0JNW5 UH1BL_HUMAN UHRF1 (ICBP90) binding protein 1-like isoform a 569 ovary(2) 2 TCAACATGCTCGTCAGATTTT 0.308 NA 4 63 1.23904e-05 1.45014e-05 0.014758 1 0 ANAPC7 51434 broad.mit.edu 37 12 110813919 110813919 + Missense_Mutation SNP G G A TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr12:110813919G>A uc001tqo.2 - 10 1563 c.1562C>T c.(1561-1563)GCT>GTT p.A521V ANAPC7_uc001tqp.3_Missense_Mutation_p.A521V NM_016238 NP_057322 Q9UJX3 APC7_HUMAN anaphase-promoting complex subunit 7 isoform a 521 TPR 7. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm protein phosphatase binding 0 CTCATTGACAGCTACAAGGAA 0.493 NA 3 68 0 0 0.004672 0 0 RNF6 6049 broad.mit.edu 37 13 26789520 26789520 + Missense_Mutation SNP C C G TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr13:26789520C>G uc001uqo.2 - 5 790 c.499G>C c.(499-501)GAA>CAA p.E167Q RNF6_uc001uqn.1_Intron|RNF6_uc010aak.2_Missense_Mutation_p.E167Q|RNF6_uc001uqp.2_Missense_Mutation_p.E167Q|RNF6_uc001uqq.2_Missense_Mutation_p.E167Q|RNF6_uc010tdk.1_Intron NM_183044 NP_898865 Q9Y252 RNF6_HUMAN ring finger protein 6 167 negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process axon|cytoplasm|PML body androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|skin(1) 2 Colorectal(5;0.000442) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245) GTATAATCTTCTCCATGAATT 0.403 NA 14 110 0 0 0.016723 0 0 MYO16 23026 broad.mit.edu 37 13 109707855 109707855 + Nonsense_Mutation SNP C C T TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr13:109707855C>T uc001vqt.1 + 27 3307 c.3181C>T c.(3181-3183)CAG>TAG p.Q1061* MYO16_uc010agk.1_Nonsense_Mutation_p.Q1083*|MYO16_uc001vqu.1_Nonsense_Mutation_p.Q861*|MYO16_uc010tjh.1_Nonsense_Mutation_p.Q573* NM_015011 NP_055826 Q9Y6X6 MYO16_HUMAN myosin heavy chain Myr 8 1061 Myosin head-like 2. cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1) 10 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) CGTGTCTGCTCAGCTACAATA 0.418 NA 8 121 0 0 0.006214 0 0 MTHFD1 4522 broad.mit.edu 37 14 64911421 64911421 + Missense_Mutation SNP G G A TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr14:64911421G>A uc001xhb.2 + 22 2534 c.2147G>A c.(2146-2148)GGA>GAA p.G716E MTHFD1_uc010aqf.2_Missense_Mutation_p.G772E NM_005956 NP_005947 P11586 C1TC_HUMAN methylenetetrahydrofolate dehydrogenase 1 716 Formyltetrahydrofolate synthetase. folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process cytosol|mitochondrion ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|methylenetetrahydrofolate dehydrogenase|protein binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488) NADH(DB00157)|Tetrahydrofolic acid(DB00116) GTCACTGCTGGACTGCCTCTT 0.443 Colon(18;220 581 13419 18191 31512)|GBM(126;343 1658 28700 44425 52519) NA 4 88 0 0 0.014758 0 0 C14orf145 145508 broad.mit.edu 37 14 81251329 81251329 + Silent SNP C C A TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr14:81251329C>A uc001xux.2 - 14 2292 c.2121G>T c.(2119-2121)GTG>GTT p.V707V C14orf145_uc010asz.1_RNA NM_152446 NP_689659 Q6ZU80 CE128_HUMAN hypothetical protein LOC145508 707 Potential. centriole|spindle pole 0 BRCA - Breast invasive adenocarcinoma(234;0.0586) GTTTTGTTTTCACACTCTGCA 0.433 NA 44 173 2.59497e-14 3.30649e-14 0.007835 1 0 GABRG3 2567 broad.mit.edu 37 15 27772717 27772717 + Missense_Mutation SNP C C T TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr15:27772717C>T uc001zbg.1 + 8 1170 c.1004C>T c.(1003-1005)GCC>GTC p.A335V NM_033223 NP_150092 Q99928 GBRG3_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 335 Helical; (Probable). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity 0 all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235) all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261) ATGGAGTATGCCACCCTCAAC 0.547 NSCLC(114;800 1656 7410 37729 45293) NA 3 25 0 0 0.004672 0 0 FMN1 342184 broad.mit.edu 37 15 33359007 33359007 + Missense_Mutation SNP C C T TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr15:33359007C>T uc001zhf.3 - 1 1079 c.1079G>A c.(1078-1080)GGA>GAA p.G360E FMN1_uc001zhg.2_Missense_Mutation_p.G360E NM_001103184 NP_001096654 Q68DA7 FMN1_HUMAN formin 1 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment actin cytoskeleton organization actin cytoskeleton|adherens junction|cytoplasm|nucleus actin binding ovary(1) 1 all_lung(180;1.14e-07) all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262) AGGGTCTGCTCCCTTCGGTTC 0.567 NA 9 118 0 0 0.006214 0 0 SLTM 79811 broad.mit.edu 37 15 59192058 59192058 + Missense_Mutation SNP T T C TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr15:59192058T>C uc002afp.2 - 7 756 c.668A>G c.(667-669)CAC>CGC p.H223R SLTM_uc002afo.2_Missense_Mutation_p.H205R|SLTM_uc002afq.2_Intron|SLTM_uc010bgd.2_Intron|SLTM_uc002afr.1_Missense_Mutation_p.H122R NM_024755 NP_079031 Q9NWH9 SLTM_HUMAN modulator of estrogen induced transcription 223 Glu-rich. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding ovary(1) 1 ATGAGCTGTGTGATCAGCCTC 0.453 NA 4 88 0 0 0.009096 0 0 PKD1 5310 broad.mit.edu 37 16 2160594 2160594 + Missense_Mutation SNP A A C TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr16:2160594A>C uc002cos.1 - 15 4783 c.4574T>G c.(4573-4575)GTT>GGT p.V1525G PKD1_uc002cot.1_Missense_Mutation_p.V1525G NM_001009944 NP_001009944 P98161 PKD1_HUMAN polycystin 1 isoform 1 precursor 1525 Extracellular (Potential).|PKD 10. calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding central_nervous_system(2)|skin(1) 3 GGCCACCCTAACGGTGAAGTC 0.677 NA 14 33 0 0 0.020292 0 0 RRN3P1 730092 broad.mit.edu 37 16 21817457 21817457 + Silent SNP G G A rs150520281 by1000genomes TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr16:21817457G>A uc010vbl.1 - 7 603 c.106C>T c.(106-108)CTG>TTG p.L36L uc002diq.3_Intron NR_003370 SubName: Full=Putative uncharacterized protein ENSP00000219758; 0 CTTACATCCAGCTTGAGTAGT 0.254 NA 3 18 0 0 0.009096 0 0 IL21R 50615 broad.mit.edu 37 16 27454340 27454340 + Missense_Mutation SNP C C A TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr16:27454340C>A uc002doq.1 + 5 643 c.410C>A c.(409-411)TCC>TAC p.S137Y IL21R_uc002dor.1_Missense_Mutation_p.S137Y|IL21R_uc002dos.1_Missense_Mutation_p.S137Y NM_181078 NP_851564 Q9HBE5 IL21R_HUMAN interleukin 21 receptor precursor 137 Extracellular (Potential).|Fibronectin type-III. natural killer cell activation integral to membrane interleukin-21 receptor activity ovary(2)|lung(1)|breast(1) 4 TATAATATCTCCTGGCGCTCA 0.522 NA T BCL6 NHL 13 128 0.000219431 0.000245888 0.020292 1 0 TP53 7157 broad.mit.edu 37 17 7578382 7578382 + Nonsense_Mutation SNP G G C TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr17:7578382G>C uc002gim.2 - 5 742 c.548C>G c.(547-549)TCA>TGA p.S183* TP53_uc002gig.1_Nonsense_Mutation_p.S183*|TP53_uc002gih.2_Nonsense_Mutation_p.S183*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.S51*|TP53_uc010cng.1_Nonsense_Mutation_p.S51*|TP53_uc002gii.1_Nonsense_Mutation_p.S51*|TP53_uc010cnh.1_Nonsense_Mutation_p.S183*|TP53_uc010cni.1_Nonsense_Mutation_p.S183*|TP53_uc002gij.2_Nonsense_Mutation_p.S183*|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Nonsense_Mutation_p.S90*|TP53_uc002gio.2_Nonsense_Mutation_p.S51*|TP53_uc010vug.1_Nonsense_Mutation_p.S144* NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 183 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). S -> P (in sporadic cancers; somatic mutation).|S -> L (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.S183*(21)|p.0?(7)|p.R174fs*24(3)|p.S183P(3)|p.?(2)|p.S183L(2)|p.V173fs*59(2)|p.K164_P219del(1)|p.E180_S183del(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R81fs*24(1)|p.R42fs*24(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) ATCGCTATCTGAGCAGCGCTC 0.647 Pancreas(47;798 1329 9957 10801) 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-Fraumensyndrome|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) 4 49 0 0 0.009096 0 0 TP53 7157 broad.mit.edu 37 17 7578406 7578406 + Missense_Mutation SNP C C T rs28934578 TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr17:7578406C>T uc002gim.2 - 5 718 c.524G>A c.(523-525)CGC>CAC p.R175H TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.2_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H|TP53_uc010vug.1_Missense_Mutation_p.R136H NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 175 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (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.R175H(729)|p.R175L(19)|p.R175C(12)|p.R175G(11)|p.0?(7)|p.R175P(5)|p.R175S(5)|p.R43H(5)|p.R82H(5)|p.R175R(4)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.R175fs*5(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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) GTGGGGGCAGCGCCTCACAAC 0.652 Pancreas(47;798 1329 9957 10801) R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(HCC1395_BREAST)|R175H(KLE_ENDOMETRIUM)|R175H(NCIH196_LUNG)|R175H(AU565_BREAST)|R175H(TYKNU_OVARY)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(SKUT1_SOFT_TISSUE)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(LS123_LARGE_INTESTINE)|R175H(SKBR3_BREAST)|R175H(RKN_OVARY)|R175H(HUCCT1_BILIARY_TRACT) 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-Fraumensyndrome|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) 7 69 0 0 0.004482 0 0 TEKT3 64518 broad.mit.edu 37 17 15207417 15207417 + Missense_Mutation SNP G G A rs148345040 byFrequency TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr17:15207417G>A uc002gon.2 - 9 1496 c.1309C>T c.(1309-1311)CGC>TGC p.R437C NM_031898 NP_114104 Q9BXF9 TEKT3_HUMAN tektin 3 437 Potential. microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule ovary(2) 2 UCEC - Uterine corpus endometrioid carcinoma (92;0.0877) TCCCTCAGGCGCTGCTGCAGG 0.542 NA 6 53 0 0 0.00308 0 0 SMCR8 140775 broad.mit.edu 37 17 18219416 18219416 + Missense_Mutation SNP G G A TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr17:18219416G>A uc002gsy.3 + 1 823 c.313G>A c.(313-315)GGC>AGC p.G105S NM_144775 NP_658988 Q8TEV9 SMCR8_HUMAN Smith-Magenis syndrome chromosome region, 105 central_nervous_system(1) 1 TTCCTTCGTGGGCCATCCTCC 0.517 NA 28 171 0 0 0.00632 0 0 KRT23 25984 broad.mit.edu 37 17 39092763 39092763 + Silent SNP A A G TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr17:39092763A>G uc002hvm.1 - 2 682 c.93T>C c.(91-93)GCT>GCC p.A31A KRT23_uc010wfl.1_Intron|KRT23_uc010cxf.1_Intron|KRT23_uc010cxg.2_Silent_p.A31A|KRT23_uc002hvn.1_Silent_p.A31A NM_015515 NP_056330 Q9C075 K1C23_HUMAN keratin 23 31 Head. intermediate filament structural molecule activity ovary(1) 1 Breast(137;0.000301)|Ovarian(249;0.15) GGACGGTGGGAGCCCTGGGGA 0.692 NA 5 43 0 0 0.014758 0 0 MED13 9969 broad.mit.edu 37 17 60039133 60039133 + Missense_Mutation SNP G G A TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr17:60039133G>A uc002izo.2 - 22 5149 c.5072C>T c.(5071-5073)CCT>CTT p.P1691L NM_005121 NP_005112 Q9UHV7 MED13_HUMAN mediator complex subunit 13 1691 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding large_intestine(1)|ovary(1) 2 GTACTGACAAGGAATAATCTA 0.373 NA 9 122 0 0 0.004482 0 0 ACE 1636 broad.mit.edu 37 17 61559918 61559918 + Missense_Mutation SNP C C G TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr17:61559918C>G uc002jau.1 + 8 1232 c.1210C>G c.(1210-1212)CTG>GTG p.L404V ACE_uc010wpi.1_Missense_Mutation_p.L404V|ACE_uc010ddu.1_Missense_Mutation_p.L221V|ACE_uc002jav.1_5'Flank|ACE_uc010ddv.1_5'Flank|ACE_uc010wpj.1_5'Flank|ACE_uc002jaw.1_5'Flank|ACE_uc010wpk.1_5'Flank NM_000789 NP_000780 P12821 ACE_HUMAN angiotensin I converting enzyme 1 isoform 1 404 Extracellular (Potential).|Peptidase M2 1. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding ovary(2)|upper_aerodigestive_tract(1)|pancreas(1) 4 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) GTACAAGGATCTGCCCGTCTC 0.597 NA 7 97 0 0 0.00308 0 0 DSG2 1829 broad.mit.edu 37 18 29104409 29104409 + Splice_Site SNP A A G TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr18:29104409A>G uc002kwu.3 + 7 879 c.691_splice c.e7-2 p.E231_splice NM_001943 NP_001934 Q14126 DSG2_HUMAN desmoglein 2 preproprotein cellular component disassembly involved in apoptosis|homophilic cell adhesion desmosome|integral to membrane calcium ion binding central_nervous_system(5)|ovary(2)|breast(1)|skin(1) 9 OV - Ovarian serous cystadenocarcinoma(10;0.0068) ATTGCTCTGCAGGAACACAGC 0.398 NA 8 31 0 0 0.00308 0 0 TNPO2 30000 broad.mit.edu 37 19 12813730 12813730 + Missense_Mutation SNP C C T TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr19:12813730C>T uc002muo.2 - 20 2397 c.2212G>A c.(2212-2214)GCA>ACA p.A738T TNPO2_uc002mup.2_Missense_Mutation_p.A830T|TNPO2_uc002muq.2_Missense_Mutation_p.A738T|TNPO2_uc002mur.2_Missense_Mutation_p.A738T NM_001136196 NP_001129668 O14787 TNPO2_HUMAN transportin 2 (importin 3, karyopherin beta 2b) 738 HEAT 12. intracellular protein transport cytoplasm|nucleus nuclear localization sequence binding|protein binding|protein transporter activity ovary(1) 1 TGCATCTCTGCCCCTGGGGGA 0.612 NA 27 140 0 0 0.005443 0 0 LPHN1 22859 broad.mit.edu 37 19 14262269 14262269 + Missense_Mutation SNP C C T TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr19:14262269C>T uc010xnn.1 - 24 4137 c.3841G>A c.(3841-3843)GAG>AAG p.E1281K LPHN1_uc010xno.1_Missense_Mutation_p.E1276K|uc002myf.2_Intron NM_001008701 NP_001008701 O94910 LPHN1_HUMAN latrophilin 1 isoform 1 precursor 1281 Cytoplasmic (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding ovary(2)|lung(2)|central_nervous_system(1) 5 ATCATCTTCTCAAAGGCCGCC 0.652 NA 5 36 0 0 0.014758 0 0 RFXANK 8625 broad.mit.edu 37 19 19312474 19312474 + Silent SNP G G A TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr19:19312474G>A uc002nls.2 + 10 1234 c.729G>A c.(727-729)GAG>GAA p.E243E RFXANK_uc002nlt.2_Silent_p.E220E|RFXANK_uc002nlu.2_Silent_p.E221E|RFXANK_uc002nlv.2_Silent_p.E243E|RFXANK_uc002nlw.2_Silent_p.E242E|NR2C2AP_uc010xqq.1_Intron|NR2C2AP_uc002nlx.2_3'UTR|NR2C2AP_uc002nly.2_3'UTR NM_003721 NP_003712 O14593 RFXK_HUMAN regulatory factor X-associated 243 ANK 5. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity ovary(2) 2 Epithelial(12;0.00228) AGGTGATCGAGAACCACATCC 0.597 NA 6 111 0 0 0.001168 0 0 IL29 282618 broad.mit.edu 37 19 39789087 39789087 + Silent SNP G G A TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr19:39789087G>A uc002okv.2 + 5 631 c.534G>A c.(532-534)ACG>ACA p.T178T NM_172140 NP_742152 Q8IU54 IL29_HUMAN interleukin 29 precursor 178 defense response to virus|negative regulation of cell proliferation|negative regulation of interleukin-13 production|negative regulation of interleukin-5 production|negative regulation of memory T cell differentiation|negative regulation of transcription, DNA-dependent|negative regulation of type 2 immune response|positive regulation of immune response|positive regulation of interferon-gamma production|positive regulation of MHC class I biosynthetic process|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of STAT protein extracellular space|interleukin-28 receptor complex cytokine activity|interleukin-28 receptor binding 0 all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335) GCCTCCTCACGCGAGACCTCA 0.602 NA 5 121 0 0 0.014758 0 0 ZNF428 126299 broad.mit.edu 37 19 44112203 44112203 + Missense_Mutation SNP C C T TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr19:44112203C>T uc002oxa.2 - 3 568 c.133G>A c.(133-135)GAA>AAA p.E45K SRRM5_uc002oxb.2_Intron NM_182498 NP_872304 Q96B54 ZN428_HUMAN zinc finger protein 428 45 Glu-rich. intracellular zinc ion binding 0 Prostate(69;0.0153) tcatcttcttcctcttcGGAG 0.483 NA 13 39 0 0 0.016723 0 0 ZNF226 7769 broad.mit.edu 37 19 44681620 44681620 + Silent SNP C C T TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr19:44681620C>T uc002oyp.2 + 6 2349 c.2205C>T c.(2203-2205)GTC>GTT p.V735V ZNF226_uc002oyq.2_Silent_p.V618V|ZNF226_uc002oyr.2_Silent_p.V618V|ZNF226_uc010ejg.2_3'UTR|ZNF226_uc002oys.2_Silent_p.V735V|ZNF226_uc002oyt.2_Silent_p.V735V NM_001032373 NP_001027545 Q9NYT6 ZN226_HUMAN zinc finger protein 226 isoform a 735 C2H2-type 18. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.0352)|all_neural(266;0.202) GTGGTAAAGTCTTCAGTCGGT 0.448 Pancreas(115;581 1665 13228 19278 50070) NA 13 142 0 0 0.016723 0 0 KCNA7 3743 broad.mit.edu 37 19 49575293 49575293 + Missense_Mutation SNP C C T TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr19:49575293C>T uc002pmg.2 - 1 906 c.550G>A c.(550-552)GGC>AGC p.G184S NM_031886 NP_114092 Q96RP8 KCNA7_HUMAN potassium voltage-gated channel, shaker-related 184 voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(1) 1 all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441) CTCACCGGGCCGGCTGCGGCT 0.706 Colon(74;686 1235 3793 23366 48562) NA 7 5 0 0 0.00308 0 0 ZNF473 25888 broad.mit.edu 37 19 50548237 50548237 + Silent SNP A A T rs142027756 TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr19:50548237A>T uc002prn.2 + 5 774 c.537A>T c.(535-537)ACA>ACT p.T179T ZNF473_uc002prm.2_Silent_p.T179T|ZNF473_uc010ybo.1_Silent_p.T167T NM_001006656 NP_001006657 Q8WTR7 ZN473_HUMAN zinc finger protein 473 179 histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription Cajal body DNA binding|protein binding|zinc ion binding ovary(1)|central_nervous_system(1) 2 all_neural(266;0.0459)|Ovarian(192;0.0728) GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058) AGACCCTCACACCAGCTAAGT 0.458 NA 13 69 0 0 0.003163 0 0 NLRP5 126206 broad.mit.edu 37 19 56539579 56539579 + Silent SNP G G C TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr19:56539579G>C uc002qmj.2 + 7 1980 c.1980G>C c.(1978-1980)GGG>GGC p.G660G NLRP5_uc002qmi.2_Silent_p.G641G NM_153447 NP_703148 P59047 NALP5_HUMAN NACHT, LRR and PYD containing protein 5 660 mitochondrion|nucleolus ATP binding ovary(3)|skin(2)|kidney(1)|central_nervous_system(1) 7 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) TTCCCCTGGGGGTGAAGCAGA 0.577 NA 11 89 0 0 0.013537 0 0 ZNF304 57343 broad.mit.edu 37 19 57869098 57869098 + Missense_Mutation SNP G G C TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr19:57869098G>C uc010ygw.1 + 3 2249 c.1861G>C c.(1861-1863)GGG>CGG p.G621R ZNF304_uc010etw.2_Missense_Mutation_p.G668R|ZNF304_uc010etx.2_Missense_Mutation_p.G579R NM_020657 NP_065708 Q9HCX3 ZN304_HUMAN zinc finger protein 304 621 C2H2-type 16. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265) CAGCGAATGTGGGAAAGCCTA 0.502 NA 23 114 0 0 0.012319 0 0 DNMT3A 1788 broad.mit.edu 37 2 25470495 25470495 + Missense_Mutation SNP A A C TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr2:25470495A>C uc002rgc.2 - 8 1236 c.979T>G c.(979-981)TGG>GGG p.W327G DNMT3A_uc002rgd.2_Missense_Mutation_p.W327G|DNMT3A_uc010eyi.2_RNA|DNMT3A_uc002rgb.2_Missense_Mutation_p.W138G NM_022552 NP_072046 Q9Y6K1 DNM3A_HUMAN DNA cytosine methyltransferase 3 alpha isoform 327 Interaction with DNMT1 and DNMT3B.|PWWP. regulation of gene expression by genetic imprinting cytoplasm|euchromatin|nuclear matrix DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding haematopoietic_and_lymphoid_tissue(133)|lung(4)|ovary(3) 140 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CACATGACCCAGCGGGTGCCT 0.622 NA Mis|F|N|S AML 16 53 0 0 0.00499 0 0 DNAH6 1768 broad.mit.edu 37 2 84804447 84804447 + Missense_Mutation SNP G G C TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr2:84804447G>C uc010fgb.2 + 13 2128 c.1991G>C c.(1990-1992)AGA>ACA p.R664T DNAH6_uc002soo.2_Missense_Mutation_p.R243T|DNAH6_uc002sop.2_Missense_Mutation_p.R243T NM_001370 NP_001361 Q9C0G6 DYH6_HUMAN dynein, axonemal, heavy polypeptide 6 664 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity central_nervous_system(1) 1 GTAGCGCTCAGACCCACCAGA 0.343 NA 12 40 0 0 0.016723 0 0 DDX11L2 84771 broad.mit.edu 37 2 114357557 114357557 + Nonstop_Mutation SNP A A G rs115341812 by1000genomes TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr2:114357557A>G uc010yxx.1 - 3 709 c.382T>C c.(382-384)TAG>CAG p.*128Q SubName: Full=DEAD/H box polypeptide 11 like 2; 0 GCCTACTTCTAGTGAAACTGG 0.567 NA 3 25 0 0 0.004672 0 0 GLI2 2736 broad.mit.edu 37 2 121708991 121708991 + Missense_Mutation SNP T T A TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr2:121708991T>A uc010flp.2 + 3 457 c.427T>A c.(427-429)TCT>ACT p.S143T GLI2_uc010yyu.1_Missense_Mutation_p.S143T|GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.3_Intron|GLI2_uc002tmu.3_Intron|GLI2_uc002tmv.1_Intron|GLI2_uc010flo.1_Missense_Mutation_p.S18T|GLI2_uc002tmw.1_Missense_Mutation_p.S143T NM_005270 NP_005261 P10070 GLI2_HUMAN GLI-Kruppel family member GLI2 143 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1) 13 Renal(3;0.0496) Prostate(154;0.0623) CTCCATGATCTCTGCAGCCAG 0.677 NA 11 42 0 0 0.008291 0 0 LRP1B 53353 broad.mit.edu 37 2 141526893 141526893 + Missense_Mutation SNP A A G TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr2:141526893A>G uc002tvj.1 - 35 6619 c.5647T>C c.(5647-5649)TAC>CAC p.Y1883H NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 1883 Extracellular (Potential). protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TGAACAGAGTACATAAGAAAT 0.383 Colon(99;50 2074 2507 20106) NA TSP Lung(27;0.18) 11 32 0 0 0.016723 0 0 CDCA7 83879 broad.mit.edu 37 2 174229553 174229553 + Missense_Mutation SNP C C T TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr2:174229553C>T uc002uid.1 + 5 624 c.493C>T c.(493-495)CCG>TCG p.P165S CDCA7_uc002uic.1_Missense_Mutation_p.P244S|CDCA7_uc010zej.1_Missense_Mutation_p.P200S|CDCA7_uc010zek.1_Missense_Mutation_p.P123S NM_145810 NP_665809 Q9BWT1 CDCA7_HUMAN cell division cycle associated 7 isoform 2 165 Arg-rich. regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.116) GCGTACATTCCCGGGTGTTGC 0.498 NA 16 65 0 0 0.007413 0 0 TTN 7273 broad.mit.edu 37 2 179446303 179446303 + Missense_Mutation SNP C C G TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr2:179446303C>G uc010zfg.1 - 265 59212 c.58988G>C c.(58987-58989)CGT>CCT p.R19663P uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R13358P|TTN_uc010zfi.1_Missense_Mutation_p.R13291P|TTN_uc010zfj.1_Missense_Mutation_p.R13166P NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 20590 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) GGCATACACACGGAATTGATA 0.453 NA 13 52 0 0 0.016723 0 0 ABCA12 26154 broad.mit.edu 37 2 215884116 215884116 + Missense_Mutation SNP G G C TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr2:215884116G>C uc002vew.2 - 13 1821 c.1601C>G c.(1600-1602)CCG>CGG p.P534R ABCA12_uc002vev.2_Missense_Mutation_p.P216R|ABCA12_uc010zjn.1_5'UTR NM_173076 NP_775099 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A, member 12 534 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 11 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) TTCTATGATCGGTATTAACTG 0.358 Ovarian(66;664 1488 5121 34295) NA 12 59 0 0 0.013537 0 0 GMEB2 26205 broad.mit.edu 37 20 62234350 62234350 + Missense_Mutation SNP C C G TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr20:62234350C>G uc002yfp.1 - 3 804 c.325G>C c.(325-327)GTG>CTG p.V109L GMEB2_uc002yfo.1_Missense_Mutation_p.V31L|GMEB2_uc002yfq.1_Missense_Mutation_p.V109L NM_012384 NP_036516 Q9UKD1 GMEB2_HUMAN glucocorticoid modulatory element binding 109 SAND. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|metal ion binding 0 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114) CCGGGACACACAAACTTCCTC 0.547 NA 4 116 0 0 0.014758 0 0 ZGPAT 84619 broad.mit.edu 37 20 62364617 62364617 + Nonsense_Mutation SNP C C T TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr20:62364617C>T uc002ygk.2 + 3 809 c.631C>T c.(631-633)CAG>TAG p.Q211* ZGPAT_uc002ygi.2_Nonsense_Mutation_p.Q211*|ZGPAT_uc002ygj.2_Nonsense_Mutation_p.Q211*|ZGPAT_uc010gkk.1_Intron|ZGPAT_uc010gkl.1_Nonsense_Mutation_p.Q211*|ZGPAT_uc002ygm.2_Nonsense_Mutation_p.Q211*|ZGPAT_uc002ygn.3_RNA|LIME1_uc011abi.1_5'Flank NM_032527 NP_115916 Q8N5A5 ZGPAT_HUMAN zinc finger, CCCH-type with G patch domain 211 negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09) GCGCCCCTTCCAGGACCCAGA 0.667 NA 4 45 0 0 0.014758 0 0 NRIP1 8204 broad.mit.edu 37 21 16338607 16338607 + Missense_Mutation SNP T T C TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr21:16338607T>C uc002yjx.2 - 4 2505 c.1907A>G c.(1906-1908)CAA>CGA p.Q636R NM_003489 NP_003480 P48552 NRIP1_HUMAN nuclear receptor interacting protein 1 636 Repression domain 2. androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity 0 Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24) CATTCCACATTGTGCTAAATT 0.428 NA 8 130 0 0 0.004482 0 0 GTPBP1 9567 broad.mit.edu 37 22 39112766 39112766 + Missense_Mutation SNP C C T TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr22:39112766C>T uc003awg.2 + 4 749 c.595C>T c.(595-597)CAC>TAC p.H199Y NM_004286 NP_004277 O00178 GTPB1_HUMAN GTP binding protein 1 199 immune response|positive regulation of mRNA catabolic process|signal transduction cytoplasmic exosome (RNase complex)|cytosol GTP binding|GTPase activity ovary(1) 1 Melanoma(58;0.04) ACTCTTCCGCCACAAACATGA 0.562 NA 12 58 0 0 0.016723 0 0 TUBGCP6 85378 broad.mit.edu 37 22 50660468 50660468 + Missense_Mutation SNP C C A rs143355923 TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr22:50660468C>A uc003bkb.1 - 15 2985 c.2473G>T c.(2473-2475)GTG>TTG p.V825L TUBGCP6_uc003bka.1_5'Flank|TUBGCP6_uc010har.1_Missense_Mutation_p.V817L|TUBGCP6_uc010has.1_RNA|TUBGCP6_uc010hat.1_Missense_Mutation_p.V21L NM_020461 NP_065194 Q96RT7 GCP6_HUMAN tubulin, gamma complex associated protein 6 825 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding ovary(2)|central_nervous_system(2) 4 all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21) TGGGGGTGCACGCTCAAGAGG 0.607 NA 10 63 3.27435e-08 4.01045e-08 0.020292 1 0 LIMD1 8994 broad.mit.edu 37 3 45637520 45637520 + Silent SNP C C G TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr3:45637520C>G uc003coq.2 + 1 1198 c.1149C>G c.(1147-1149)CTC>CTG p.L383L NM_014240 NP_055055 Q9UGP4 LIMD1_HUMAN LIM domains containing 1 383 cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex protein binding|zinc ion binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315) GTCCCAAGCTCAGCCCCACCA 0.617 NA 4 27 0 0 0.009096 0 0 ROBO1 6091 broad.mit.edu 37 3 78649390 78649390 + Missense_Mutation SNP C C T TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr3:78649390C>T uc003dqe.2 - 30 5022 c.4814G>A c.(4813-4815)AGC>AAC p.S1605N ROBO1_uc003dqb.2_Missense_Mutation_p.S1566N|ROBO1_uc003dqc.2_Missense_Mutation_p.S1505N|ROBO1_uc003dqd.2_Missense_Mutation_p.S1560N|ROBO1_uc010hoh.2_Missense_Mutation_p.S797N NM_002941 NP_002932 Q9Y6N7 ROBO1_HUMAN roundabout 1 isoform a 1605 Cytoplasmic (Potential). activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding large_intestine(2) 2 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) TGACATTGAGCTTGAGGAACT 0.378 NA 8 81 0 0 0.004482 0 0 TOMM70A 9868 broad.mit.edu 37 3 100093992 100093992 + Missense_Mutation SNP C C T TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr3:100093992C>T uc003dtw.2 - 7 1529 c.1097G>A c.(1096-1098)CGA>CAA p.R366Q NM_014820 NP_055635 O94826 TOM70_HUMAN translocase of outer mitochondrial membrane 70 366 Cytoplasmic (Potential). protein targeting to mitochondrion integral to membrane|mitochondrial outer membrane translocase complex protein binding|protein transmembrane transporter activity ovary(1) 1 AGCATTTGCTCGAAGCTATAT 0.353 NA 7 142 0 0 0.001984 0 0 PLSCR2 57047 broad.mit.edu 37 3 146166994 146166994 + Missense_Mutation SNP A A G TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr3:146166994A>G uc003evv.1 - 7 977 c.644T>C c.(643-645)ATT>ACT p.I215T PLSCR2_uc003evw.1_Missense_Mutation_p.I284T NM_020359 NP_065092 Q9NRY7 PLS2_HUMAN phospholipid scramblase 2 215 Helical; (Potential). phospholipid scrambling integral to membrane|plasma membrane calcium ion binding|phospholipid scramblase activity 0 TAGACTTACAATGAGGAAACA 0.353 NA 8 93 0 0 0.004482 0 0 PLSCR2 57047 broad.mit.edu 37 3 146167007 146167007 + Missense_Mutation SNP C C G TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr3:146167007C>G uc003evv.1 - 7 964 c.631G>C c.(631-633)GCC>CCC p.A211P PLSCR2_uc003evw.1_Missense_Mutation_p.A280P NM_020359 NP_065092 Q9NRY7 PLS2_HUMAN phospholipid scramblase 2 211 Helical; (Potential). phospholipid scrambling integral to membrane|plasma membrane calcium ion binding|phospholipid scramblase activity 0 AGGAAACAGGCACCAATCATC 0.368 NA 11 106 0 0 0.008291 0 0 PHC3 80012 broad.mit.edu 37 3 169840403 169840403 + Missense_Mutation SNP A A C TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr3:169840403A>C uc010hws.1 - 9 1946 c.1882T>G c.(1882-1884)TTG>GTG p.L628V PHC3_uc003fgl.2_Missense_Mutation_p.L640V|PHC3_uc011bpq.1_Missense_Mutation_p.L587V NM_024947 NP_079223 Q8NDX5 PHC3_HUMAN polyhomeotic like 3 628 Pro-rich. multicellular organismal development PcG protein complex DNA binding|zinc ion binding ovary(1)|central_nervous_system(1) 2 all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655) TCAGAAGTCAAATCTTCTCCT 0.388 NA 15 80 0 0 0.006122 0 0 TTC14 151613 broad.mit.edu 37 3 180327734 180327734 + Missense_Mutation SNP G G A TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr3:180327734G>A uc003fkk.2 + 12 1849 c.1717G>A c.(1717-1719)GAG>AAG p.E573K TTC14_uc003fkl.2_3'UTR|TTC14_uc003fkm.2_Missense_Mutation_p.E573K NM_133462 NP_597719 Q96N46 TTC14_HUMAN tetratricopeptide repeat domain 14 isoform a 573 RNA binding ovary(1) 1 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) ACAGATAAAAGAGAAAGATAG 0.373 NA 31 265 0 0 0.015359 0 0 POLR2H 5437 broad.mit.edu 37 3 184081293 184081293 + Silent SNP C C T TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr3:184081293C>T uc003fok.1 + 1 100 c.13C>T c.(13-15)CTG>TTG p.L5L CLCN2_uc003foi.2_5'Flank|CLCN2_uc010hya.1_5'Flank|CLCN2_uc011brl.1_5'Flank|CLCN2_uc011brm.1_5'Flank|CLCN2_uc011brn.1_5'Flank|POLR2H_uc003foj.1_RNA NM_006232 NP_006223 P52434 RPAB3_HUMAN RNA polymerase II, polypeptide H 5 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex|nucleolus DNA-directed RNA polymerase activity|protein binding|zinc ion binding 0 all_cancers(143;6.66e-11)|Ovarian(172;0.0339) Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GGCGGGCATCCTGTTTGAGGA 0.572 NA OREG0015950 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 91 0 0 0.003163 0 0 ACOX3 8310 broad.mit.edu 37 4 8407736 8407736 + Missense_Mutation SNP C C T TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr4:8407736C>T uc010idk.2 - 7 867 c.722G>A c.(721-723)GGA>GAA p.G241E ACOX3_uc003glc.3_Missense_Mutation_p.G241E|ACOX3_uc003gld.3_Missense_Mutation_p.G241E|ACOX3_uc003gle.1_Missense_Mutation_p.G146E NM_003501 NP_003492 O15254 ACOX3_HUMAN acyl-Coenzyme A oxidase 3 isoform a 241 bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase peroxisomal matrix acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity central_nervous_system(1) 1 AACCATCACTCCAGGCATGGG 0.498 NA 32 280 0 0 0.019004 0 0 GRXCR1 389207 broad.mit.edu 37 4 42895466 42895466 + Silent SNP G G A TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr4:42895466G>A uc003gwt.2 + 1 183 c.183G>A c.(181-183)CAG>CAA p.Q61Q NM_001080476 NP_001073945 A8MXD5 GRCR1_HUMAN glutaredoxin, cysteine rich 1 61 cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development kinocilium|stereocilium electron carrier activity|protein disulfide oxidoreductase activity ovary(1) 1 CCGATGGACAGCAGAATGGCC 0.483 NA 5 284 0 0 0.014758 0 0 LRRC66 339977 broad.mit.edu 37 4 52860582 52860582 + Missense_Mutation SNP G G T TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr4:52860582G>T uc003gzi.2 - 4 2619 c.2606C>A c.(2605-2607)GCT>GAT p.A869D NM_001024611 NP_001019782 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 869 integral to membrane ovary(1)|central_nervous_system(1)|skin(1) 3 ATGGAAGGCAGCCTTATCAGG 0.373 NA 4 57 1.23904e-05 1.45014e-05 0.014758 1 0 TMPRSS11D 9407 broad.mit.edu 37 4 68691511 68691511 + Missense_Mutation SNP C C T TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr4:68691511C>T uc003hdq.2 - 9 1099 c.1034G>A c.(1033-1035)GGA>GAA p.G345E LOC550112_uc003hdl.3_Intron|TMPRSS11D_uc003hdp.2_Missense_Mutation_p.G126E|TMPRSS11D_uc011caj.1_Missense_Mutation_p.G228E NM_004262 NP_004253 O60235 TM11D_HUMAN transmembrane protease, serine 11D 345 Peptidase S1.|Extracellular (Potential). proteolysis|respiratory gaseous exchange extracellular region|integral to plasma membrane serine-type endopeptidase activity ovary(1) 1 CAAGATGGCTCCATTATAACT 0.438 NA 4 70 0 0 0.009096 0 0 AGXT2L1 64850 broad.mit.edu 37 4 109665008 109665008 + Missense_Mutation SNP T T A TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr4:109665008T>A uc003hzc.2 - 12 1489 c.1308A>T c.(1306-1308)TTA>TTT p.L436F AGXT2L1_uc010imc.2_Missense_Mutation_p.L430F|AGXT2L1_uc011cfm.1_Missense_Mutation_p.L396F|AGXT2L1_uc011cfn.1_Missense_Mutation_p.L363F|AGXT2L1_uc011cfo.1_Missense_Mutation_p.L378F NM_031279 NP_112569 Q8TBG4 AT2L1_HUMAN alanine-glyoxylate aminotransferase 2-like 1 436 cellular amino acid metabolic process mitochondrion alanine-glyoxylate transaminase activity|pyridoxal phosphate binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(123;0.000281) TAGCTTCTTCTAAAACTGAAT 0.338 NA 6 57 0 0 0.001984 0 0 ZNF827 152485 broad.mit.edu 37 4 146791527 146791527 + Silent SNP G G A TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr4:146791527G>A uc003ikn.2 - 5 1899 c.1851C>T c.(1849-1851)TTC>TTT p.F617F ZNF827_uc003ikm.2_Silent_p.F617F|ZNF827_uc010iox.2_Silent_p.F267F NM_178835 NP_849157 Q17R98 ZN827_HUMAN zinc finger protein 827 617 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_hematologic(180;0.151) ATTCCGGGCTGAACACATAGC 0.522 NA 7 104 0 0 0.004482 0 0 ARHGAP10 79658 broad.mit.edu 37 4 148796218 148796218 + Missense_Mutation SNP T T C TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr4:148796218T>C uc003ilf.2 + 8 749 c.749T>C c.(748-750)ATG>ACG p.M250T NM_024605 NP_078881 A1A4S6 RHG10_HUMAN Rho GTPase activating protein 10 250 BAR. apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction cytosol|perinuclear region of cytoplasm|plasma membrane cytoskeletal adaptor activity|SH3 domain binding skin(2)|pancreas(1)|lung(1) 4 all_hematologic(180;0.151) Renal(17;0.0166) GBM - Glioblastoma multiforme(119;0.0423) GAAGAGCTCATGAACAAAATC 0.418 NA 3 31 0 0 0.004672 0 0 FRG1 2483 broad.mit.edu 37 4 190878596 190878596 + Missense_Mutation SNP G G A TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr4:190878596G>A uc003izs.2 + 6 667 c.476G>A c.(475-477)TGC>TAC p.C159Y NM_004477 NP_004468 Q14331 FRG1_HUMAN FSHD region gene 1 159 rRNA processing Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus 0 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161) TTTATTAGATGCAATGAAGCA 0.368 NA 3 21 0 0 0.014758 0 0 PARP8 79668 broad.mit.edu 37 5 50111358 50111358 + Silent SNP G G A TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr5:50111358G>A uc003jon.3 + 16 1850 c.1668G>A c.(1666-1668)CAG>CAA p.Q556Q PARP8_uc011cpz.1_Silent_p.Q448Q|PARP8_uc003joo.2_Silent_p.Q556Q|PARP8_uc003jop.2_Silent_p.Q556Q NM_024615 NP_078891 Q8N3A8 PARP8_HUMAN poly (ADP-ribose) polymerase family, member 8 556 intracellular NAD+ ADP-ribosyltransferase activity lung(3)|large_intestine(1)|ovary(1) 5 Lung NSC(810;0.0305)|Breast(144;0.222) CTGGAGCTCAGGTAGTAACAC 0.378 NA 3 37 0 0 0.004672 0 0 ACSL6 23305 broad.mit.edu 37 5 131309043 131309043 + Silent SNP G G A TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr5:131309043G>A uc010jdo.1 - 12 1127 c.1044C>T c.(1042-1044)ATC>ATT p.I348I ACSL6_uc003kvv.1_RNA|ACSL6_uc003kvx.1_Silent_p.I373I|ACSL6_uc003kvy.1_Silent_p.I373I|ACSL6_uc003kwb.2_Silent_p.I338I|ACSL6_uc003kvz.1_Silent_p.I273I|ACSL6_uc003kwa.1_Silent_p.I359I|ACSL6_uc003kvw.1_5'UTR|ACSL6_uc010jdn.1_Silent_p.I363I|ACSL6_uc010jdp.1_RNA NM_015256 NP_056071 Q9UKU0 ACSL6_HUMAN acyl-CoA synthetase long-chain family member 6 348 Cytoplasmic (Potential). fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane ATP binding|long-chain fatty acid-CoA ligase activity upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) AGAGAAGGCGGATATCTCCCT 0.547 NA 6 35 0 0 0.001984 0 0 PCDHA6 56142 broad.mit.edu 37 5 140208743 140208743 + Missense_Mutation SNP C C T TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr5:140208743C>T uc003lho.2 + 1 1094 c.1067C>T c.(1066-1068)TCC>TTC p.S356F PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Missense_Mutation_p.S356F|PCDHA6_uc011dab.1_Missense_Mutation_p.S356F NM_018909 NP_061732 Q9UN73 PCDA6_HUMAN protocadherin alpha 6 isoform 1 precursor 356 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding haematopoietic_and_lymphoid_tissue(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACTTCCTTATCCTTGCCTGTA 0.498 NA 9 150 0 0 0.020292 0 0 HIST1H1E 3008 broad.mit.edu 37 6 26156807 26156807 + Silent SNP G G A TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr6:26156807G>A uc003ngq.2 + 1 249 c.189G>A c.(187-189)AAG>AAA p.K63K HIST1H2BD_uc003ngr.2_5'Flank|HIST1H2BD_uc003ngs.2_5'Flank NM_005321 NP_005312 P10412 H14_HUMAN histone cluster 1, H1e 63 H15. nucleosome assembly nucleosome|nucleus DNA binding|protein binding large_intestine(1)|ovary(1) 2 CCGCTCTCAAGAAAGCGCTGG 0.617 NA 7 59 0 0 0.001984 0 0 C6orf136 221545 broad.mit.edu 37 6 30619243 30619243 + Missense_Mutation SNP G G A TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr6:30619243G>A uc003nqw.3 + 4 957 c.764G>A c.(763-765)CGG>CAG p.R255Q C6orf136_uc003nqx.3_Missense_Mutation_p.R436Q|C6orf136_uc011dmn.1_Missense_Mutation_p.R121Q NM_001109938 NP_001103408 Q5SQH8 CF136_HUMAN hypothetical protein LOC221545 isoform 1 255 0 GAGCATTACCGGTAAGAGAGA 0.368 NA 4 198 0 0 0.009096 0 0 GSTA1 2938 broad.mit.edu 37 6 52657701 52657701 + Missense_Mutation SNP C C T TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr6:52657701C>T uc003paz.2 - 6 611 c.499G>A c.(499-501)GTC>ATC p.V167I NM_145740 NP_665683 P08263 GSTA1_HUMAN glutathione S-transferase alpha 1 167 GST C-terminal. glutathione metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity ovary(1) 1 Lung NSC(77;0.118) Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143) AGCTCCTCGACGTAGTAGAGA 0.532 NA 13 211 0 0 0.013537 0 0 C6orf204 387119 broad.mit.edu 37 6 118887202 118887202 + Missense_Mutation SNP C C A TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr6:118887202C>A uc003pxz.1 - 3 1098 c.510G>T c.(508-510)CAG>CAT p.Q170H C6orf204_uc003pya.1_Missense_Mutation_p.Q173H|C6orf204_uc003pyb.2_Missense_Mutation_p.Q170H|C6orf204_uc011ebj.1_Missense_Mutation_p.Q68H|C6orf204_uc003pyc.2_Missense_Mutation_p.Q173H|C6orf204_uc011ebl.1_Missense_Mutation_p.Q68H NM_001042475 NP_001035940 Q5SZL2 CF204_HUMAN chromosome 6 open reading frame 204 isoform a 170 centrosome breast(1) 1 all_cancers(87;0.0814)|all_epithelial(87;0.115) GBM - Glioblastoma multiforme(226;0.0114)|all cancers(137;0.035)|OV - Ovarian serous cystadenocarcinoma(136;0.0618) CAGTGCCACCCTGGCCACAGT 0.507 NA 10 77 3.86212e-05 4.42185e-05 0.008291 1 0 NCOA7 135112 broad.mit.edu 37 6 126249904 126249904 + Missense_Mutation SNP G G C TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr6:126249904G>C uc010kes.2 + 18 3265 c.2816G>C c.(2815-2817)TGG>TCG p.W939S NCOA7_uc003qae.3_Missense_Mutation_p.W939S|NCOA7_uc003qah.2_Missense_Mutation_p.W928S|NCOA7_uc003qai.2_Missense_Mutation_p.W939S|NCOA7_uc010ket.2_Missense_Mutation_p.W824S|NCOA7_uc003qak.2_Missense_Mutation_p.W216S NM_181782 NP_861447 Q8NI08 NCOA7_HUMAN nuclear receptor coactivator 7 isoform 1 939 TLD. cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding lung(2)|ovary(1) 3 UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237) CTGGAGGTGTGGGCATTTGAT 0.418 NA 17 64 0 0 0.006122 0 0 GRM1 2911 broad.mit.edu 37 6 146755808 146755808 + Missense_Mutation SNP C C T TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr6:146755808C>T uc010khw.1 + 9 3931 c.3461C>T c.(3460-3462)TCG>TTG p.S1154L GRM1_uc010khv.1_3'UTR|GRM1_uc003qll.2_3'UTR|GRM1_uc011edz.1_3'UTR|GRM1_uc011eea.1_3'UTR NM_000838 NP_000829 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 isoform alpha 1154 Ser-rich.|Cytoplasmic (Potential). synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2) 19 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) TTCCGCGACTCGGTGGCCTCG 0.657 NA 8 61 0 0 0.004482 0 0 AKAP12 9590 broad.mit.edu 37 6 151670666 151670666 + Silent SNP C C A TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr6:151670666C>A uc011eep.1 + 4 1380 c.1140C>A c.(1138-1140)CCC>CCA p.P380P AKAP12_uc003qoe.2_Silent_p.P380P|AKAP12_uc003qof.2_Silent_p.P282P|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Silent_p.P275P NM_005100 NP_005091 Q02952 AKA12_HUMAN A kinase (PRKA) anchor protein 12 isoform 1 380 Involved in PKC-binding (Probable). G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting cell cortex|cytoskeleton|plasma membrane adenylate cyclase binding|protein kinase A binding large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1) 8 Ovarian(120;0.125) BRCA - Breast invasive adenocarcinoma(37;0.175) OV - Ovarian serous cystadenocarcinoma(155;2.98e-11) TTGAGCTGCCCTCAGAGGAGC 0.552 Melanoma(141;1616 1805 10049 24534 51979) NA 4 57 0.000602214 0.000660763 0.014758 1 0 CCR6 1235 broad.mit.edu 37 6 167550481 167550481 + Missense_Mutation SNP G G C TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr6:167550481G>C uc003qvl.2 + 13 3239 c.763G>C c.(763-765)GTA>CTA p.V255L CCR6_uc010kkm.2_Missense_Mutation_p.V255L|CCR6_uc003qvn.3_Missense_Mutation_p.V255L|CCR6_uc003qvm.3_Missense_Mutation_p.V255L NM_031409 NP_113597 P51684 CCR6_HUMAN chemokine (C-C motif) receptor 6 255 Helical; Name=6; (Potential). cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response integral to plasma membrane C-C chemokine receptor activity ovary(1) 1 Breast(66;1.53e-05)|Ovarian(120;0.0606) OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507) AGCCATCCGTGTAATCATAGC 0.418 NA 5 71 0 0 0.014758 0 0 TXNDC3 51314 broad.mit.edu 37 7 37916489 37916489 + Missense_Mutation SNP G G A TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr7:37916489G>A uc003tfn.2 + 12 1246 c.874G>A c.(874-876)GAT>AAT p.D292N NM_016616 NP_057700 Q8N427 TXND3_HUMAN thioredoxin domain containing 3 292 cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process cytoplasm|microtubule cytoskeleton ATP binding|nucleoside diphosphate kinase activity ovary(1)|breast(1)|central_nervous_system(1) 3 CATTGAAGAGGATGCAGCTAA 0.323 Ovarian(108;903 1537 27096 29907 47400) NA Kartagener_syndrome 3 36 0 0 0.004672 0 0 EGFR 1956 broad.mit.edu 37 7 55241708 55241708 + Missense_Mutation SNP G G C rs121913428 TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr7:55241708G>C uc003tqk.2 + 18 2402 c.2156G>C c.(2155-2157)GGC>GCC p.G719A EGFR_uc010kzg.1_Missense_Mutation_p.G674A|EGFR_uc011kco.1_Missense_Mutation_p.G666A NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 719 Cytoplasmic (Potential).|Protein kinase.|ATP. G -> A (found in a lung cancer sample).|G -> D (found in a lung cancer sample).|G -> S (found in a lung cancer sample; somatic mutation; strongly increased kinase activity). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.G719S(61)|p.G719A(52)|p.G719C(31)|p.G719?(9)|p.G719D(6)|p.G719V(1)|p.G719fs*29(1) lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) AAAGTGCTGGGCTCCGGTGCG 0.582 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 25 60 0 0 0.01892 0 0 EGFR 1956 broad.mit.edu 37 7 55249005 55249005 + Missense_Mutation SNP G G T rs146024686 TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr7:55249005G>T uc003tqk.2 + 20 2549 c.2303G>T c.(2302-2304)AGC>ATC p.S768I EGFR_uc010kzg.1_Missense_Mutation_p.S723I|EGFR_uc011kco.1_Missense_Mutation_p.S715I|uc003tqo.2_RNA NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 768 Cytoplasmic (Potential).|Protein kinase. activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.S768I(53)|p.S768_V769insAWT(1)|p.S768N(1)|p.S752_V769del(1)|p.S768_V769insVAS(1)|p.S768C(1)|p.S768_V769>IL(1)|p.A767_S768insTLA(1) lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) GTGATGGCCAGCGTGGACAAC 0.637 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 36 105 1.58521e-26 2.03628e-26 0.005524 1 0 GTF2IRD1 9569 broad.mit.edu 37 7 73973268 73973268 + Missense_Mutation SNP G G A TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr7:73973268G>A uc003uaq.2 + 21 2623 c.2230G>A c.(2230-2232)GAG>AAG p.E744K GTF2IRD1_uc010lbq.2_Missense_Mutation_p.E761K|GTF2IRD1_uc003uap.2_Missense_Mutation_p.E729K|GTF2IRD1_uc003uar.1_Missense_Mutation_p.E729K NM_016328 NP_057412 Q9UHL9 GT2D1_HUMAN GTF2I repeat domain containing 1 isoform 1 744 GTF2I-like 4. nucleus DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity ovary(4) 4 CGTGATCATCGAGGGGCTGCC 0.597 NA 4 60 0 0 0.009096 0 0 ABCB4 5244 broad.mit.edu 37 7 87041236 87041236 + Missense_Mutation SNP C C G TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr7:87041236C>G uc003uiv.1 - 23 2973 c.2897G>C c.(2896-2898)GGA>GCA p.G966A ABCB4_uc003uiw.1_Missense_Mutation_p.G966A|ABCB4_uc003uix.1_Intron NM_018849 NP_061337 P21439 MDR3_HUMAN ATP-binding cassette, subfamily B, member 4 966 Extracellular (By similarity).|ABC transmembrane type-1 2. cellular lipid metabolic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|xenobiotic-transporting ATPase activity ovary(4)|skin(1)|pancreas(1) 6 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) GCGCATATGTCCATTCACAAT 0.318 NA 3 32 0 0 0.004672 0 0 PRSS1 5644 broad.mit.edu 37 7 142459867 142459867 + Missense_Mutation SNP C C A rs149770610 TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr7:142459867C>A uc003wak.2 + 3 460 c.443C>A c.(442-444)GCG>GAG p.A148E uc011krr.1_Intron|uc003vzp.2_Intron|uc011ksh.1_Intron|uc011ksi.1_Intron|uc003vzw.1_Intron|uc010loj.1_Intron|uc003wad.2_Intron|uc003wag.1_Intron|TRY6_uc011ksn.1_Intron|PRSS1_uc003wam.2_Missense_Mutation_p.A88E NM_002769 NP_002760 P07477 TRY1_HUMAN protease, serine, 1 preproprotein 148 Peptidase S1. digestion|proteolysis extracellular space metal ion binding|protein binding|serine-type endopeptidase activity large_intestine(1)|central_nervous_system(1) 2 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) GGCAACACTGCGAGCTCTGGC 0.577 NA Hereditary_Pancreatitis 4 106 0.00024832 0.0002763 0.009096 1 0 SLC7A2 6542 broad.mit.edu 37 8 17421114 17421114 + Silent SNP T T C TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr8:17421114T>C uc011kyc.1 + 11 1843 c.1674T>C c.(1672-1674)GTT>GTC p.V558V SLC7A2_uc011kyd.1_Silent_p.V597V|SLC7A2_uc011kye.1_Silent_p.V598V|SLC7A2_uc011kyf.1_Silent_p.V558V NM_001008539 NP_001008539 P52569 CTR2_HUMAN solute carrier family 7, member 2 isoform 2 558 Helical; (Potential). cellular amino acid metabolic process|ion transport cytoplasm|integral to plasma membrane|membrane fraction basic amino acid transmembrane transporter activity ovary(2)|skin(1) 3 Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216) L-Lysine(DB00123)|L-Ornithine(DB00129) CCCCTCAGGTTCCATTCTTAC 0.393 NA 6 117 0 0 0.001168 0 0 ZBTB10 65986 broad.mit.edu 37 8 81426206 81426206 + Missense_Mutation SNP G G T TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr8:81426206G>T uc003ybx.3 + 3 2521 c.1923G>T c.(1921-1923)TTG>TTT p.L641F ZBTB10_uc003ybv.3_Missense_Mutation_p.L349F|ZBTB10_uc003ybw.3_Missense_Mutation_p.L641F|ZBTB10_uc010lzt.2_Missense_Mutation_p.L639F NM_001105539 NP_001099009 Q96DT7 ZBT10_HUMAN zinc finger and BTB domain containing 10 isoform 641 transcription, DNA-dependent nucleus DNA binding|zinc ion binding lung(1) 1 all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06) BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296) CAAATTTATTGGCTGAAGCTG 0.398 NA 7 37 0.000157383 0.000177618 0.00308 1 0 CA1 759 broad.mit.edu 37 8 86242016 86242016 + Missense_Mutation SNP C C G TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr8:86242016C>G uc003ydh.2 - 8 771 c.571G>C c.(571-573)GAT>CAT p.D191H CA13_uc003ydf.1_Intron|CA1_uc010mae.1_Missense_Mutation_p.D191H|CA1_uc003ydi.2_Missense_Mutation_p.D191H NM_001738 NP_001729 P00915 CAH1_HUMAN carbonic anhydrase I 191 one-carbon metabolic process Golgi apparatus carbonate dehydratase activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 all_lung(136;4.89e-06) Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dichlorphenamide(DB01144)|Ethinamate(DB01031)|Ethoxzolamide(DB00311)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Levetiracetam(DB01202)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Verapamil(DB00661)|Zonisamide(DB00909) GTCCAGAAATCCAGGGATGAA 0.448 NA 3 14 0 0 0.004672 0 0 SLC26A7 115111 broad.mit.edu 37 8 92374658 92374658 + Silent SNP C C T rs144974209 TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr8:92374658C>T uc003yex.2 + 13 1670 c.1392C>T c.(1390-1392)ACC>ACT p.T464T SLC26A7_uc003yey.2_RNA|SLC26A7_uc003yez.2_Silent_p.T464T|SLC26A7_uc003yfa.2_Silent_p.T464T NM_052832 NP_439897 Q8TE54 S26A7_HUMAN solute carrier family 26, member 7 isoform a 464 Helical; (Potential). basolateral plasma membrane|integral to membrane|recycling endosome membrane anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(11;0.00802) TTGTTTGTACCATAGCTATAG 0.393 NA 6 148 0 0 0.001984 0 0 TG 7038 broad.mit.edu 37 8 134042186 134042186 + Missense_Mutation SNP G G A rs144905796 byFrequency TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr8:134042186G>A uc003ytw.2 + 41 7198 c.7157G>A c.(7156-7158)CGT>CAT p.R2386H TG_uc010mdw.2_Missense_Mutation_p.R1145H|TG_uc011ljb.1_Missense_Mutation_p.R755H|TG_uc011ljc.1_Missense_Mutation_p.R519H NM_003235 NP_003226 P01266 THYG_HUMAN thyroglobulin precursor 2386 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1) 15 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) GCAGCAGACCGTGGCGGGGCT 0.642 NA 5 60 0 0 0.001168 0 0 TEX10 54881 broad.mit.edu 37 9 103108428 103108428 + Missense_Mutation SNP C C T TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr9:103108428C>T uc004bas.2 - 4 1278 c.1063G>A c.(1063-1065)GTT>ATT p.V355I TEX10_uc011lvf.1_Missense_Mutation_p.V194I|TEX10_uc011lvg.1_Missense_Mutation_p.V358I|TEX10_uc011lvh.1_Missense_Mutation_p.V290I|TEX10_uc004bat.2_Missense_Mutation_p.V355I NM_017746 NP_060216 Q9NXF1 TEX10_HUMAN testis expressed 10 isoform 1 355 integral to membrane|MLL1 complex|nuclear membrane|nucleolus binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(62;0.0527) OV - Ovarian serous cystadenocarcinoma(323;0.157) TGCTGCATAACCTGTAGAGGT 0.378 NA 19 39 0 0 0.007413 0 0 C9orf125 84302 broad.mit.edu 37 9 104238192 104238192 + Missense_Mutation SNP G G A TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr9:104238192G>A uc004bbm.2 - 2 1505 c.1183C>T c.(1183-1185)CGG>TGG p.R395W uc004bbl.1_5'Flank NM_032342 NP_115718 Q9BRR3 CI125_HUMAN hypothetical protein LOC84302 395 integral to membrane 0 Acute lymphoblastic leukemia(62;0.0527) AAGTTGTACCGGAGACTGGAG 0.488 NA 28 114 0 0 0.015359 0 0 TLR4 7099 broad.mit.edu 37 9 120476638 120476638 + Missense_Mutation SNP C C A TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr9:120476638C>A uc004bjz.2 + 3 2523 c.2232C>A c.(2230-2232)AGC>AGA p.S744R TLR4_uc004bka.2_Missense_Mutation_p.S704R|TLR4_uc004bkb.2_Missense_Mutation_p.S544R NM_138554 NP_612564 O00206 TLR4_HUMAN toll-like receptor 4 precursor 744 Cytoplasmic (Potential).|TIR. activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity lung(10)|ovary(4)|breast(1)|skin(1) 16 TCATCCAGAGCCGCTGGTGTA 0.488 NA 29 45 5.60225e-13 7.08124e-13 0.009535 1 0 ODF2 4957 broad.mit.edu 37 9 131219701 131219701 + Missense_Mutation SNP C C T TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr9:131219701C>T uc011mbd.1 + 2 328 c.17C>T c.(16-18)TCA>TTA p.S6L ODF2_uc011maz.1_Intron|ODF2_uc011mba.1_Intron|ODF2_uc010myb.2_Intron|ODF2_uc011mbb.1_Intron|ODF2_uc011mbc.1_Intron|ODF2_uc004bva.2_Intron|ODF2_uc004bvb.2_5'UTR|ODF2_uc011mbe.1_Intron|ODF2_uc004bvc.2_Intron|ODF2_uc010myc.2_Intron|ODF2_uc011mbf.1_Intron|ODF2_uc004bvd.3_Missense_Mutation_p.S6L|ODF2_uc004bve.2_Missense_Mutation_p.S6L NM_002540 NP_002531 Q5BJF6 ODFP2_HUMAN outer dense fiber of sperm tails 2 isoform 1 6 cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis centriole|cilium|cytosol|microtubule|spindle pole protein binding|structural molecule activity ovary(1) 1 GCCTCATCCTCAGGCGGCTCC 0.657 NA 6 117 0 0 0.004482 0 0 ODF2 4957 broad.mit.edu 37 9 131223324 131223324 + Missense_Mutation SNP G G T TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr9:131223324G>T uc011mbd.1 + 4 538 c.227G>T c.(226-228)CGG>CTG p.R76L ODF2_uc011maz.1_Missense_Mutation_p.R76L|ODF2_uc011mba.1_5'UTR|ODF2_uc010myb.2_Intron|ODF2_uc011mbb.1_Intron|ODF2_uc011mbc.1_Intron|ODF2_uc004bva.2_Missense_Mutation_p.R29L|ODF2_uc004bvb.2_Intron|ODF2_uc011mbe.1_Missense_Mutation_p.R71L|ODF2_uc004bvc.2_Intron|ODF2_uc010myc.2_Missense_Mutation_p.R76L|ODF2_uc011mbf.1_Intron|ODF2_uc004bvd.3_Missense_Mutation_p.R76L|ODF2_uc004bve.2_Intron NM_002540 NP_002531 Q5BJF6 ODFP2_HUMAN outer dense fiber of sperm tails 2 isoform 1 76 cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis centriole|cilium|cytosol|microtubule|spindle pole protein binding|structural molecule activity ovary(1) 1 TCATCTGCCCGGCCTGTGGGA 0.572 NA 16 28 6.31663e-08 7.61853e-08 0.003163 1 0 GPR34 2857 broad.mit.edu 37 X 41555240 41555240 + Missense_Mutation SNP C C G TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chrX:41555240C>G uc004dfp.3 + 3 638 c.354C>G c.(352-354)AAC>AAG p.N118K CASK_uc004dfl.3_Intron|CASK_uc004dfm.3_Intron|CASK_uc004dfn.3_Intron|GPR34_uc004dfq.3_Missense_Mutation_p.N118K|GPR34_uc010nhg.2_Missense_Mutation_p.N118K|GPR34_uc004dfr.3_Missense_Mutation_p.N118K NM_001097579 NP_001091048 Q9UPC5 GPR34_HUMAN G protein-coupled receptor 34 118 Extracellular (Potential). integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled ovary(1) 1 TTAACCAAAACAAGTGGACAC 0.368 NA 9 212 0 0 0.006214 0 0 RP2 6102 broad.mit.edu 37 X 46713257 46713257 + Nonsense_Mutation SNP G G A TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chrX:46713257G>A uc004dgw.3 + 2 638 c.449G>A c.(448-450)TGG>TAG p.W150* NM_006915 NP_008846 O75695 XRP2_HUMAN XRP2 protein 150 C-CAP/cofactor C-like. cell morphogenesis|CTP biosynthetic process|GTP biosynthetic process|protein folding|UTP biosynthetic process|visual perception cytoplasm|plasma membrane ATP binding|GTP binding|GTPase activator activity|nucleoside diphosphate kinase activity|unfolded protein binding 0 TGTTTTCAATGGTACTATCCT 0.388 NA 6 76 0 0 0.001168 0 0 HUWE1 10075 broad.mit.edu 37 X 53672299 53672299 + Missense_Mutation SNP C C G TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chrX:53672299C>G uc004dsp.2 - 7 870 c.468G>C c.(466-468)AGG>AGC p.R156S NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1 156 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity ovary(8)|large_intestine(4)|breast(4)|kidney(1) 17 GCAGCGGGGTCCTCTTGTCAG 0.473 NA 4 82 0 0 0.009096 0 0 TEX11 56159 broad.mit.edu 37 X 69960640 69960640 + Missense_Mutation SNP C C T TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chrX:69960640C>T uc004dyl.2 - 12 961 c.799G>A c.(799-801)GTT>ATT p.V267I TEX11_uc004dym.2_Missense_Mutation_p.V252I NM_001003811 NP_001003811 Q8IYF3 TEX11_HUMAN testis expressed sequence 11 isoform 1 267 protein binding ovary(3)|breast(1)|skin(1) 5 Renal(35;0.156) AGCCGTAGAACTTTAGCCTGT 0.383 NA 3 30 0 0 0.004672 0 0 ATRX 546 broad.mit.edu 37 X 76937732 76937732 + Missense_Mutation SNP C C T TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chrX:76937732C>T uc004ecp.3 - 9 3248 c.3016G>A c.(3016-3018)GAA>AAA p.E1006K ATRX_uc004ecq.3_Missense_Mutation_p.E968K|ATRX_uc004eco.3_Missense_Mutation_p.E791K|ATRX_uc004ecr.2_Missense_Mutation_p.E938K|ATRX_uc010nlx.1_Missense_Mutation_p.E977K|ATRX_uc010nly.1_Missense_Mutation_p.E951K NM_000489 NP_000480 P46100 ATRX_HUMAN transcriptional regulator ATRX isoform 1 1006 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) TACTGTTGTTCCATTTTAATT 0.338 NA Mis|F|N Pancreatic neuroendocrine tumors ATR-X (alpha thalassemia/mental retardation) syndrome 5 154 0 0 0.001984 0 0 DACH2 117154 broad.mit.edu 37 X 86067912 86067912 + Missense_Mutation SNP C C A TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chrX:86067912C>A uc004eew.2 + 8 1464 c.1294C>A c.(1294-1296)CTG>ATG p.L432M DACH2_uc004eex.2_Missense_Mutation_p.L419M|DACH2_uc010nmq.2_Missense_Mutation_p.L298M|DACH2_uc011mra.1_Missense_Mutation_p.L265M|DACH2_uc010nmr.2_Missense_Mutation_p.L213M|DACH2_uc004eey.2_Missense_Mutation_p.L115M|DACH2_uc004eez.2_Missense_Mutation_p.L115M NM_053281 NP_444511 Q96NX9 DACH2_HUMAN dachshund 2 isoform a 432 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|nucleotide binding ovary(4)|pancreas(1) 5 CAAGATACAGCTGACTCCTGG 0.448 NA 3 26 0.000602214 0.000660763 0.014758 1 0 DACH2 117154 broad.mit.edu 37 X 86069769 86069769 + Missense_Mutation SNP G G T rs143491219 TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chrX:86069769G>T uc004eew.2 + 10 1786 c.1616G>T c.(1615-1617)CGC>CTC p.R539L DACH2_uc004eex.2_Missense_Mutation_p.R526L|DACH2_uc010nmq.2_Missense_Mutation_p.R405L|DACH2_uc011mra.1_Missense_Mutation_p.R372L|DACH2_uc010nmr.2_Missense_Mutation_p.R320L|DACH2_uc004eey.2_Missense_Mutation_p.R232L|DACH2_uc004eez.2_Missense_Mutation_p.R222L NM_053281 NP_444511 Q96NX9 DACH2_HUMAN dachshund 2 isoform a 539 Potential. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|nucleotide binding ovary(4)|pancreas(1) 5 GAATCAAAGCGCCGGGAGCAA 0.438 NA 5 56 5.9392e-07 7.05559e-07 0.001168 1 0 COL4A5 1287 broad.mit.edu 37 X 107802324 107802324 + Missense_Mutation SNP C C T TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chrX:107802324C>T uc004enz.1 + 3 374 c.172C>T c.(172-174)CAC>TAC p.H58Y COL4A5_uc011mso.1_Missense_Mutation_p.H58Y NM_033380 NP_203699 P29400 CO4A5_HUMAN type IV collagen alpha 5 isoform 2 precursor 58 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding ovary(3)|central_nervous_system(1) 4 TTTGGAAGGACACCCAGGATT 0.468 NA Alport_syndrome_with_Diffuse_Leiomyomatosis 5 164 0 0 0.014758 0 0 NKAP 79576 broad.mit.edu 37 X 119064115 119064115 + Missense_Mutation SNP G G C TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chrX:119064115G>C uc004esh.2 - 8 1104 c.937C>G c.(937-939)CTG>GTG p.L313V NKAP_uc004esg.2_Missense_Mutation_p.L200V NM_024528 NP_078804 Q8N5F7 NKAP_HUMAN NFKB activating protein 313 Necessary for interaction with HDAC3 and transcriptional repression. negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent cytoplasm|nucleus chromatin binding|protein binding ovary(2) 2 CCAGGTAACAGAGCATGGCCA 0.378 NA 4 100 0 0 0.009096 0 0 CT47B1 643311 broad.mit.edu 37 X 120008753 120008753 + Missense_Mutation SNP C C T TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chrX:120008753C>T uc011muc.1 - 1 1027 c.772G>A c.(772-774)GAG>AAG p.E258K NM_001145718 NP_001139190 P0C2W7 CT47B_HUMAN cancer/testis antigen family 147, member B1 258 0 CCCTTACCCTCGGGGGCCACG 0.542 NA 9 252 0 0 0.004482 0 0 SLITRK4 139065 broad.mit.edu 37 X 142717050 142717050 + Missense_Mutation SNP T T A TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chrX:142717050T>A uc004fbx.2 - 2 2251 c.1875A>T c.(1873-1875)TTA>TTT p.L625F SLITRK4_uc004fby.2_Missense_Mutation_p.L625F NM_173078 NP_775101 Q8IW52 SLIK4_HUMAN slit and trk like 4 protein precursor 625 Helical; (Potential). integral to membrane upper_aerodigestive_tract(1)|large_intestine(1) 2 Acute lymphoblastic leukemia(192;6.56e-05) TGAGGACCACTAAGATACTTA 0.483 NA 15 95 0 0 0.020292 0 0 LDHA 3939 broad.mit.edu 37 11 18427087 18427087 + Frame_Shift_Del DEL A A - TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr11:18427087delA uc001mok.3 + 7 1074 c.802delA c.(802-804)AGGfs p.R268fs LDHA_uc010rdc.1_Frame_Shift_Del_p.R210fs|LDHA_uc009yhn.2_Frame_Shift_Del_p.R267fs|LDHA_uc009yho.2_Frame_Shift_Del_p.R95fs|LDHA_uc001mol.3_Intron|LDHA_uc010rdd.1_Frame_Shift_Del_p.R297fs NM_005566 NP_005557 P00338 LDHA_HUMAN lactate dehydrogenase A isoform 1 268 glycolysis|pyruvate metabolic process cytosol L-lactate dehydrogenase activity|protein binding central_nervous_system(3) 3 NADH(DB00157) GAAGAATCTTAGGCGGGTGCA 0.413 NA 11 127 --- --- --- --- NA NA NA NA NA CDKN2A 1029 broad.mit.edu 37 9 21974763 21974763 + Frame_Shift_Del DEL G G - TCGA-50-6595-01A-12D-1855-08 TCGA-50-6595-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9913e506-fc98-467d-8601-89595d0475e8 fd324b71-23d4-4083-ae48-1d4151970714 g.chr9:21974763delG uc003zpk.2 - 1 276 c.64delC c.(64-66)CGGfs p.R22fs MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_Frame_Shift_Del_p.R22fs|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Intron NM_000077 NP_000068 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 1 22 ANK 1. cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding p.0?(1112)|p.?(23)|p.R22P(1)|p.R22fs*14(1)|p.S12fs*20(1) haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1) 3678 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) ACCCGACCCCGGGCCGCGGCC 0.736 17 Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 12 56 --- --- --- --- NA NA NA NA NA