Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox isArtifactMode oxoGCut PER3 8863 broad.mit.edu 37 1 7870006 7870006 + Silent SNP G G T rs139242507 TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bb1e4188-130c-4206-8671-d7ce3eb8ee74 bdfb06d0-6d6f-4acd-8520-fade65e20d95 g.chr1:7870006G>T uc001aoo.2 + 11 1468 c.1293G>T c.(1291-1293)TCG>TCT p.S431S PER3_uc009vmg.1_Silent_p.S432S|PER3_uc009vmh.1_Silent_p.S432S|PER3_uc001aop.2_Silent_p.S432S|PER3_uc010nzw.1_Silent_p.S113S NM_016831 NP_058515 P56645 PER3_HUMAN period 3 431 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity ovary(1)|pancreas(1)|skin(1) 3 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649) GCAGCGGGTCGCAGGAGCAGC 0.592 NA 11 34 9.7e-10 2.03e-09 1 0 PRAMEF12 390999 broad.mit.edu 37 1 12837316 12837316 + Silent SNP G G A TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bb1e4188-130c-4206-8671-d7ce3eb8ee74 bdfb06d0-6d6f-4acd-8520-fade65e20d95 g.chr1:12837316G>A uc001aui.2 + 3 1053 c.1026G>A c.(1024-1026)CTG>CTA p.L342L NM_001080830 NP_001074299 O95522 PRA12_HUMAN PRAME family member 12 342 ovary(3) 3 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TCTCAGTTCTGCTGGAGCAAG 0.587 NA 16 55 0 0 0 0 PRAMEF1 65121 broad.mit.edu 37 1 12855677 12855677 + Silent SNP C C G rs142654121 TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bb1e4188-130c-4206-8671-d7ce3eb8ee74 bdfb06d0-6d6f-4acd-8520-fade65e20d95 g.chr1:12855677C>G uc001auj.1 + 4 1060 c.957C>G c.(955-957)CTC>CTG p.L319L NM_023013 NP_075389 O95521 PRAM1_HUMAN PRAME family member 1 319 LRR 1. 0 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) ACCCAAGCCTCGGTTACCTAA 0.493 NA 23 110 0 0 0 0 MAGI3 260425 broad.mit.edu 37 1 114184803 114184803 + Missense_Mutation SNP C C T TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bb1e4188-130c-4206-8671-d7ce3eb8ee74 bdfb06d0-6d6f-4acd-8520-fade65e20d95 g.chr1:114184803C>T uc001edk.2 + 10 1812 c.1631C>T c.(1630-1632)TCG>TTG p.S544L MAGI3_uc001edh.3_Missense_Mutation_p.S569L|MAGI3_uc001edi.3_Missense_Mutation_p.S544L|MAGI3_uc010owm.1_Missense_Mutation_p.S569L|MAGI3_uc001edj.2_Missense_Mutation_p.S265L NM_001142782 NP_001136254 Q5TCQ9 MAGI3_HUMAN membrane-associated guanylate kinase-related 3 569 apoptosis|interspecies interaction between organisms|intracellular signal transduction nucleus|tight junction ATP binding|guanylate kinase activity|protein binding lung(3)|ovary(2)|central_nervous_system(1) 6 Lung SC(450;0.184) all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) AATGGAAAATCGGGACACACT 0.493 NA 28 79 0 0 0 0 HMGCS2 3158 broad.mit.edu 37 1 120296002 120296002 + Missense_Mutation SNP C C A TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bb1e4188-130c-4206-8671-d7ce3eb8ee74 bdfb06d0-6d6f-4acd-8520-fade65e20d95 g.chr1:120296002C>A uc001eid.2 - 7 1246 c.1195G>T c.(1195-1197)GCC>TCC p.A399S HMGCS2_uc010oxj.1_Missense_Mutation_p.A357S|HMGCS2_uc001eie.2_Missense_Mutation_p.A307S NM_005518 NP_005509 P54868 HMCS2_HUMAN hydroxymethylglutaryl-CoA synthase 2 isoform 1 399 acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process mitochondrial matrix hydroxymethylglutaryl-CoA synthase activity ovary(2) 2 all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219) all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124) Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595) AGTTCTTGGGCAGAGTGGCTG 0.348 NA 9 23 1.34e-11 2.81e-11 1 0 THEM4 117145 broad.mit.edu 37 1 151867562 151867562 + Missense_Mutation SNP C C T TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bb1e4188-130c-4206-8671-d7ce3eb8ee74 bdfb06d0-6d6f-4acd-8520-fade65e20d95 g.chr1:151867562C>T uc001ezj.1 - 2 387 c.208G>A c.(208-210)GAC>AAC p.D70N THEM4_uc001ezk.1_RNA NM_053055 NP_444283 Q5T1C6 THEM4_HUMAN thioesterase superfamily member 4 70 insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling cytosol|ruffle membrane 0 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) CAGGAGCCGTCTTCACATTTC 0.433 NA 4 89 0 0 0 0 TCHHL1 126637 broad.mit.edu 37 1 152058810 152058810 + Missense_Mutation SNP C C T TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bb1e4188-130c-4206-8671-d7ce3eb8ee74 bdfb06d0-6d6f-4acd-8520-fade65e20d95 g.chr1:152058810C>T uc001ezo.1 - 3 1413 c.1348G>A c.(1348-1350)GAA>AAA p.E450K NM_001008536 NP_001008536 Q5QJ38 TCHL1_HUMAN trichohyalin-like 1 450 calcium ion binding ovary(1)|skin(1) 2 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) TCTCCTCCTTCTGAGCTTAGA 0.448 NA 18 192 0 0 0 0 CCDC19 25790 broad.mit.edu 37 1 159857775 159857775 + Silent SNP G G T TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bb1e4188-130c-4206-8671-d7ce3eb8ee74 bdfb06d0-6d6f-4acd-8520-fade65e20d95 g.chr1:159857775G>T uc001fui.2 - 5 462 c.444C>A c.(442-444)ATC>ATA p.I148I CCDC19_uc009wtb.2_RNA|CCDC19_uc001fuj.2_RNA|CCDC19_uc001fuk.2_Silent_p.I63I|CCDC19_uc001ful.2_Silent_p.I63I|CCDC19_uc009wtc.1_Silent_p.I148I NM_012337 NP_036469 Q9UL16 CCD19_HUMAN nasopharyngeal epithelium specific protein 1 148 mitochondrion|soluble fraction ovary(1) 1 all_hematologic(112;0.0597) BRCA - Breast invasive adenocarcinoma(70;0.151) TCTGTTTCATGATCTTCTTTC 0.542 NA 29 54 1.56e-20 3.33e-20 1 0 SELE 6401 broad.mit.edu 37 1 169701064 169701064 + Silent SNP G G A TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bb1e4188-130c-4206-8671-d7ce3eb8ee74 bdfb06d0-6d6f-4acd-8520-fade65e20d95 g.chr1:169701064G>A uc001ggm.3 - 4 598 c.441C>T c.(439-441)TCC>TCT p.S147S C1orf112_uc001ggj.2_Intron NM_000450 NP_000441 P16581 LYAM2_HUMAN selectin E precursor 147 EGF-like.|Extracellular (Potential). actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity ovary(3)|skin(2) 5 all_hematologic(923;0.208) GGCCACTGCAGGATGTATTGG 0.438 NA 11 20 0 0 0 0 RABGAP1L 9910 broad.mit.edu 37 1 174606603 174606603 + Missense_Mutation SNP G G A TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bb1e4188-130c-4206-8671-d7ce3eb8ee74 bdfb06d0-6d6f-4acd-8520-fade65e20d95 g.chr1:174606603G>A uc001gjx.2 + 14 1996 c.1801G>A c.(1801-1803)GAA>AAA p.E601K NM_014857 NP_055672 Q5R372 RBG1L_HUMAN RAB GTPase activating protein 1-like isoform A 601 Rab-GAP TBC. regulation of protein localization early endosome|Golgi apparatus|nucleus Rab GTPase activator activity ovary(2)|lung(1)|kidney(1) 4 AGATGGTCAAGAATCGCTCTA 0.358 NA 16 57 0 0 0 0 PRG4 10216 broad.mit.edu 37 1 186273956 186273956 + Missense_Mutation SNP C C G TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bb1e4188-130c-4206-8671-d7ce3eb8ee74 bdfb06d0-6d6f-4acd-8520-fade65e20d95 g.chr1:186273956C>G uc001gru.3 + 6 551 c.500C>G c.(499-501)TCC>TGC p.S167C PRG4_uc001grt.3_Missense_Mutation_p.S126C|PRG4_uc009wyl.2_Intron|PRG4_uc009wym.2_Intron|PRG4_uc010poo.1_RNA NM_005807 NP_005798 Q92954 PRG4_HUMAN proteoglycan 4 isoform A 167 Ser-rich. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity skin(1) 1 CAAGAGtcctcctcctcctcc 0.259 NA 4 40 0 0 0 0 CDC73 79577 broad.mit.edu 37 1 193104562 193104562 + Missense_Mutation SNP G G A TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bb1e4188-130c-4206-8671-d7ce3eb8ee74 bdfb06d0-6d6f-4acd-8520-fade65e20d95 g.chr1:193104562G>A uc001gtb.2 + 4 592 c.349G>A c.(349-351)GGT>AGT p.G117S MIR1278_hsa-mir-1278|MI0006425_5'Flank NM_024529 NP_078805 Q6P1J9 CDC73_HUMAN parafibromin 117 cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent Cdc73/Paf1 complex protein binding parathyroid(46)|ovary(1)|breast(1)|pancreas(1) 49 CTTAGAAATAGGTCTTCAGCG 0.333 NA Hyperparathyroidism_Familial_Isolated|Hyperparathyroidism-Jaw_Tumor_Syndrome 23 42 0 0 0 0 ASPM 259266 broad.mit.edu 37 1 197115445 197115445 + Silent SNP G G C TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bb1e4188-130c-4206-8671-d7ce3eb8ee74 bdfb06d0-6d6f-4acd-8520-fade65e20d95 g.chr1:197115445G>C uc001gtu.2 - 1 380 c.123C>G c.(121-123)CTC>CTG p.L41L ASPM_uc001gtv.2_Silent_p.L41L|ASPM_uc001gtw.3_5'UTR NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN asp (abnormal spindle)-like, microcephaly 41 mitosis cytoplasm|nucleus calmodulin binding ovary(4)|central_nervous_system(2) 6 AGAAGTGGCTGAGAGACAGGA 0.373 NA 10 50 0 0 0 0 OR2M3 127062 broad.mit.edu 37 1 248366902 248366902 + Missense_Mutation SNP T T C TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bb1e4188-130c-4206-8671-d7ce3eb8ee74 bdfb06d0-6d6f-4acd-8520-fade65e20d95 g.chr1:248366902T>C uc010pzg.1 + 1 533 c.533T>C c.(532-534)TTC>TCC p.F178S NM_001004689 NP_001004689 Q8NG83 OR2M3_HUMAN olfactory receptor, family 2, subfamily M, 178 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) GCCCACTTCTTCTGTGACTTC 0.423 NA 38 182 0 0 0 0 OR2M7 391196 broad.mit.edu 37 1 248487479 248487479 + Missense_Mutation SNP C C G TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bb1e4188-130c-4206-8671-d7ce3eb8ee74 bdfb06d0-6d6f-4acd-8520-fade65e20d95 g.chr1:248487479C>G uc010pzk.1 - 1 392 c.392G>C c.(391-393)AGA>ACA p.R131T NM_001004691 NP_001004691 Q8NG81 OR2M7_HUMAN olfactory receptor, family 2, subfamily M, 131 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) ATTGGTGTATCTTAGAGGGTG 0.438 NA 8 241 0 0 0 0 FBXO18 84893 broad.mit.edu 37 10 5948405 5948405 + Missense_Mutation SNP G G A TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bb1e4188-130c-4206-8671-d7ce3eb8ee74 bdfb06d0-6d6f-4acd-8520-fade65e20d95 g.chr10:5948405G>A uc001iis.2 + 3 658 c.563G>A c.(562-564)GGT>GAT p.G188D FBXO18_uc001iir.2_Missense_Mutation_p.G114D|FBXO18_uc009xig.2_Missense_Mutation_p.G114D|FBXO18_uc001iit.2_Missense_Mutation_p.G239D NM_178150 NP_835363 Q8NFZ0 FBX18_HUMAN F-box only protein, helicase, 18 isoform 2 188 DNA repair nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(2)|skin(1) 3 GGGGACGTGGGTCCTGATCCC 0.448 NA 5 19 0 0 0 0 APBB1IP 54518 broad.mit.edu 37 10 26785285 26785285 + Missense_Mutation SNP A A T TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bb1e4188-130c-4206-8671-d7ce3eb8ee74 bdfb06d0-6d6f-4acd-8520-fade65e20d95 g.chr10:26785285A>T uc001iss.2 + 4 446 c.125A>T c.(124-126)GAA>GTA p.E42V APBB1IP_uc001isr.2_Missense_Mutation_p.E42V|APBB1IP_uc009xks.1_Missense_Mutation_p.E42V NM_019043 NP_061916 Q7Z5R6 AB1IP_HUMAN amyloid beta (A4) precursor protein-binding, 42 blood coagulation|signal transduction cytoskeleton|cytosol|focal adhesion|lamellipodium lung(4)|skin(2)|central_nervous_system(1) 7 CCCAGAGCTGAATTTAACTAC 0.343 NA 18 56 0 0 0 0 PARD3 56288 broad.mit.edu 37 10 34408630 34408630 + Silent SNP C C T TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bb1e4188-130c-4206-8671-d7ce3eb8ee74 bdfb06d0-6d6f-4acd-8520-fade65e20d95 g.chr10:34408630C>T uc010qej.1 - 24 3588 c.3588G>A c.(3586-3588)TCG>TCA p.S1196S PARD3_uc010qek.1_Silent_p.S1193S|PARD3_uc010qel.1_Silent_p.S1159S|PARD3_uc010qem.1_Silent_p.S1180S|PARD3_uc010qen.1_Silent_p.S1150S|PARD3_uc010qeo.1_Silent_p.S1113S|PARD3_uc010qep.1_Silent_p.S1106S|PARD3_uc010qeq.1_Silent_p.S1084S NM_019619 NP_062565 Q8TEW0 PARD3_HUMAN partitioning-defective protein 3 homolog 1196 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding ovary(1) 1 Breast(68;0.0707) CCACGGACACCGAGTGTCGCC 0.617 NA 5 11 0 0 0 0 JMJD1C 221037 broad.mit.edu 37 10 64974590 64974590 + Missense_Mutation SNP G G C TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bb1e4188-130c-4206-8671-d7ce3eb8ee74 bdfb06d0-6d6f-4acd-8520-fade65e20d95 g.chr10:64974590G>C uc001jmn.2 - 8 1637 c.1337C>G c.(1336-1338)GCA>GGA p.A446G JMJD1C_uc001jml.2_Missense_Mutation_p.A227G|JMJD1C_uc001jmm.2_Missense_Mutation_p.A158G|JMJD1C_uc010qiq.1_Missense_Mutation_p.A264G|JMJD1C_uc009xpi.2_Missense_Mutation_p.A264G|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc001jmp.1_Missense_Mutation_p.A158G NM_032776 NP_116165 Q15652 JHD2C_HUMAN jumonji domain containing 1C isoform a 446 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding ovary(4)|breast(1)|central_nervous_system(1) 6 Prostate(12;0.0119)|all_hematologic(501;0.191) CCGCTTCTCTGCTTCTTCATG 0.388 NA 29 42 0 0 0 0 CTNNA3 29119 broad.mit.edu 37 10 67726429 67726429 + Missense_Mutation SNP T T A TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bb1e4188-130c-4206-8671-d7ce3eb8ee74 bdfb06d0-6d6f-4acd-8520-fade65e20d95 g.chr10:67726429T>A uc009xpn.1 - 17 2464 c.2341A>T c.(2341-2343)ATC>TTC p.I781F CTNNA3_uc001jmw.2_Missense_Mutation_p.I781F NM_001127384 NP_001120856 Q9UI47 CTNA3_HUMAN catenin, alpha 3 781 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1) 8 TGACTGCAGATTTTCAGTTGG 0.428 NA 14 46 0 0 0 0 GRID1 2894 broad.mit.edu 37 10 87614310 87614310 + Silent SNP G G C TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bb1e4188-130c-4206-8671-d7ce3eb8ee74 bdfb06d0-6d6f-4acd-8520-fade65e20d95 g.chr10:87614310G>C uc001kdl.1 - 8 1277 c.1176C>G c.(1174-1176)GTC>GTG p.V392V GRID1_uc009xsu.1_RNA NM_017551 NP_060021 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 392 Extracellular (Potential). cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1) 10 L-Glutamic Acid(DB00142) TTTCAAACTGGACATAGGGAT 0.498 NA Multiple Myeloma(13;0.14) 10 34 0 0 0 0 WAPAL 23063 broad.mit.edu 37 10 88259533 88259533 + Silent SNP C C T TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bb1e4188-130c-4206-8671-d7ce3eb8ee74 bdfb06d0-6d6f-4acd-8520-fade65e20d95 g.chr10:88259533C>T uc001kdo.2 - 3 1909 c.1467G>A c.(1465-1467)CAG>CAA p.Q489Q WAPAL_uc001kdn.2_Silent_p.Q532Q|WAPAL_uc009xsw.2_Silent_p.Q489Q NM_015045 NP_055860 Q7Z5K2 WAPL_HUMAN wings apart-like homolog 489 Mediates interaction with the cohesin complex. cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin chromatin|cohesin complex|cytoplasm protein binding ovary(1) 1 CTGGGGGAGGCTGCAAGGAGG 0.358 NA 18 63 0 0 0 0 HPS6 79803 broad.mit.edu 37 10 103826369 103826369 + Missense_Mutation SNP G G A TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bb1e4188-130c-4206-8671-d7ce3eb8ee74 bdfb06d0-6d6f-4acd-8520-fade65e20d95 g.chr10:103826369G>A uc001kuj.2 + 1 1223 c.1138G>A c.(1138-1140)GCC>ACC p.A380T NM_024747 NP_079023 Q86YV9 HPS6_HUMAN Hermansky-Pudlak syndrome-6 380 cytosol|early endosome membrane|endoplasmic reticulum|microsome 0 Colorectal(252;0.122) Epithelial(162;5.93e-08)|all cancers(201;1.03e-06) TCTGCTTTCAGCCTTGGGTCT 0.582 NA Hermansky-Pudlak_syndrome 5 39 0 0 0 0 TAF5 6877 broad.mit.edu 37 10 105133180 105133180 + Missense_Mutation SNP G G A TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bb1e4188-130c-4206-8671-d7ce3eb8ee74 bdfb06d0-6d6f-4acd-8520-fade65e20d95 g.chr10:105133180G>A uc001kwv.2 + 2 648 c.625G>A c.(625-627)GGA>AGA p.G209R TAF5_uc010qqq.1_Missense_Mutation_p.G209R NM_006951 NP_008882 Q15542 TAF5_HUMAN TBP-associated factor 5 209 histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding ovary(2) 2 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198) CAACCAACAAGGAGATCCCAC 0.413 NA 8 87 0 0 0 0 APBB1 322 broad.mit.edu 37 11 6425033 6425033 + Silent SNP G G A TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bb1e4188-130c-4206-8671-d7ce3eb8ee74 bdfb06d0-6d6f-4acd-8520-fade65e20d95 g.chr11:6425033G>A uc001mdb.1 - 3 841 c.741C>T c.(739-741)AAC>AAT p.N247N APBB1_uc001mcz.1_5'Flank|APBB1_uc001mdd.3_Silent_p.N27N|APBB1_uc001mda.2_Intron|APBB1_uc001mdc.1_Silent_p.N247N|APBB1_uc010rab.1_5'Flank|APBB1_uc010rac.1_5'Flank|APBB1_uc010rad.1_5'Flank|APBB1_uc010rae.1_Silent_p.N12N|APBB1_uc010raf.1_Translation_Start_Site|APBB1_uc009yfa.2_Translation_Start_Site|APBB1_uc009yey.2_Translation_Start_Site|APBB1_uc010rag.1_Translation_Start_Site|APBB1_uc009yfb.2_Translation_Start_Site|APBB1_uc001mde.2_Translation_Start_Site|APBB1_uc010rah.1_Translation_Start_Site NM_001164 NP_001155 O00213 APBB1_HUMAN amyloid beta A4 precursor protein-binding, 247 apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding breast(2) 2 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194) TCTCGAAGGCGTTGGGGTTCC 0.617 NA 17 14 0 0 0 0 DCHS1 8642 broad.mit.edu 37 11 6646039 6646039 + Missense_Mutation SNP G G A rs141901540 TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bb1e4188-130c-4206-8671-d7ce3eb8ee74 bdfb06d0-6d6f-4acd-8520-fade65e20d95 g.chr11:6646039G>A uc001mem.1 - 20 7617 c.7207C>T c.(7207-7209)CGG>TGG p.R2403W NM_003737 NP_003728 Q96JQ0 PCD16_HUMAN dachsous 1 precursor 2403 Cadherin 23.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|large_intestine(1)|pancreas(1) 5 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCTGAGTCCCGATCAGTGGCA 0.557 NA 6 9 0 0 0 0 GALNT8 26290 broad.mit.edu 37 12 4855415 4855415 + Silent SNP T T C TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bb1e4188-130c-4206-8671-d7ce3eb8ee74 bdfb06d0-6d6f-4acd-8520-fade65e20d95 g.chr12:4855415T>C uc001qne.1 + 6 1256 c.1164T>C c.(1162-1164)CTT>CTC p.L388L NM_017417 NP_059113 Q9NY28 GALT8_HUMAN polypeptide N-acetylgalactosaminyltransferase 8 388 Lumenal (Potential).|Catalytic subdomain B. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(2)|pancreas(1)|skin(1) 4 ACGTGGAGCTTAGCCTGAGGG 0.498 NA 4 45 0 0 0 0 CD163L1 283316 broad.mit.edu 37 12 7559320 7559320 + Missense_Mutation SNP C C T TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bb1e4188-130c-4206-8671-d7ce3eb8ee74 bdfb06d0-6d6f-4acd-8520-fade65e20d95 g.chr12:7559320C>T uc001qsy.2 - 5 921 c.895G>A c.(895-897)GTA>ATA p.V299I CD163L1_uc010sge.1_Missense_Mutation_p.V309I NM_174941 NP_777601 Q9NR16 C163B_HUMAN scavenger receptor cysteine-rich type 1 299 SRCR 3.|Extracellular (Potential). extracellular region|integral to membrane|plasma membrane scavenger receptor activity ovary(8)|skin(2)|central_nervous_system(1) 11 TGCTTGCATACGACATCAGCT 0.522 NA 22 55 0 0 0 0 BRAP 8315 broad.mit.edu 37 12 112082288 112082288 + Silent SNP T T C TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bb1e4188-130c-4206-8671-d7ce3eb8ee74 bdfb06d0-6d6f-4acd-8520-fade65e20d95 g.chr12:112082288T>C uc001tsn.3 - 12 1688 c.1494A>G c.(1492-1494)CGA>CGG p.R498R BRAP_uc010syh.1_Silent_p.R319R|BRAP_uc009zvv.2_Silent_p.R468R NM_006768 NP_006759 Q7Z569 BRAP_HUMAN BRCA1 associated protein 498 Potential. MAPKKK cascade|negative regulation of signal transduction|Ras protein signal transduction cytoplasm|ubiquitin ligase complex identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding lung(1) 1 CTTGGTTGGCTCGCAAACACT 0.483 NA 20 78 0 0 0 0 RPLP0 6175 broad.mit.edu 37 12 120636708 120636708 + Missense_Mutation SNP G G C TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bb1e4188-130c-4206-8671-d7ce3eb8ee74 bdfb06d0-6d6f-4acd-8520-fade65e20d95 g.chr12:120636708G>C uc001txp.2 - 5 651 c.414C>G c.(412-414)TTC>TTG p.F138L RPLP0_uc001txq.2_Missense_Mutation_p.F138L|RPLP0_uc001txr.2_Missense_Mutation_p.F138L|uc001txs.1_5'Flank NM_053275 NP_444505 P05388 RLA0_HUMAN ribosomal protein P0 138 endocrine pancreas development|interspecies interaction between organisms|ribosome biogenesis|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleus protein binding|RNA binding|structural constituent of ribosome ovary(1) 1 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CTAAAGCCTGGAAAAAGGAGG 0.567 NA 6 18 0 0 0 0 SBNO1 55206 broad.mit.edu 37 12 123812541 123812541 + Missense_Mutation SNP A A C TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bb1e4188-130c-4206-8671-d7ce3eb8ee74 bdfb06d0-6d6f-4acd-8520-fade65e20d95 g.chr12:123812541A>C uc010tap.1 - 10 1330 c.1330T>G c.(1330-1332)TTA>GTA p.L444V SBNO1_uc010tao.1_Missense_Mutation_p.L443V|SBNO1_uc010taq.1_Intron|SBNO1_uc001uet.2_Missense_Mutation_p.L444V|SBNO1_uc001ueu.2_Missense_Mutation_p.L443V|SBNO1_uc001uev.2_Missense_Mutation_p.L442V|SBNO1_uc009zxy.1_Missense_Mutation_p.L409V NM_018183 NP_060653 A3KN83 SBNO1_HUMAN sno, strawberry notch homolog 1 444 ATP binding|DNA binding|hydrolase activity breast(5)|skin(2)|ovary(1)|kidney(1) 9 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197) ACAGGACATAAGTTTTTGGCT 0.368 NA 14 70 0 0 0 0 MTUS2 23281 broad.mit.edu 37 13 29599504 29599504 + Silent SNP C C T TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bb1e4188-130c-4206-8671-d7ce3eb8ee74 bdfb06d0-6d6f-4acd-8520-fade65e20d95 g.chr13:29599504C>T uc001usl.3 + 1 757 c.699C>T c.(697-699)CAC>CAT p.H233H NM_001033602 NP_001028774 Q5JR59 MTUS2_HUMAN hypothetical protein LOC23281 isoform a 223 cytoplasm|microtubule microtubule binding|protein homodimerization activity 0 TGCCAGACCACGCTGTCCCGG 0.587 NA 6 9 0 0 0 0 MYO16 23026 broad.mit.edu 37 13 109318469 109318469 + Silent SNP C C T TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bb1e4188-130c-4206-8671-d7ce3eb8ee74 bdfb06d0-6d6f-4acd-8520-fade65e20d95 g.chr13:109318469C>T uc001vqt.1 + 2 324 c.198C>T c.(196-198)GAC>GAT p.D66D MYO16_uc010agk.1_Silent_p.D88D NM_015011 NP_055826 Q9Y6X6 MYO16_HUMAN myosin heavy chain Myr 8 66 ANK 1. 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) TGCTACAGGACGCGATTATCC 0.428 NA 4 16 0 0 0 0 MMP14 4323 broad.mit.edu 37 14 23313687 23313687 + Missense_Mutation SNP G G C TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bb1e4188-130c-4206-8671-d7ce3eb8ee74 bdfb06d0-6d6f-4acd-8520-fade65e20d95 g.chr14:23313687G>C uc001whc.2 + 7 1353 c.1119G>C c.(1117-1119)GAG>GAC p.E373D NM_004995 NP_004986 P50281 MMP14_HUMAN matrix metalloproteinase 14 preproprotein 373 Hemopexin-like 2.|Extracellular (Potential). extracellular matrix|integral to plasma membrane|melanosome calcium ion binding|metalloendopeptidase activity|zinc ion binding 0 all_cancers(95;9.47e-05) GBM - Glioblastoma multiforme(265;0.00551) CTGCCTACGAGAGGAAGGATG 0.537 NA 15 170 0 0 0 0 HECTD1 25831 broad.mit.edu 37 14 31619322 31619322 + Missense_Mutation SNP C C T TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bb1e4188-130c-4206-8671-d7ce3eb8ee74 bdfb06d0-6d6f-4acd-8520-fade65e20d95 g.chr14:31619322C>T uc001wrc.1 - 13 2527 c.2038G>A c.(2038-2040)GAT>AAT p.D680N HECTD1_uc001wrd.1_Missense_Mutation_p.D195N NM_015382 NP_056197 Q9ULT8 HECD1_HUMAN HECT domain containing 1 680 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular metal ion binding|protein binding|ubiquitin-protein ligase activity ovary(3)|large_intestine(1)|lung(1) 5 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) GCTGCTGCATCACTCCAAATA 0.418 NA 19 147 0 0 0 0 BAZ1A 11177 broad.mit.edu 37 14 35343736 35343736 + Missense_Mutation SNP G G C TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bb1e4188-130c-4206-8671-d7ce3eb8ee74 bdfb06d0-6d6f-4acd-8520-fade65e20d95 g.chr14:35343736G>C uc001wsk.2 - 2 643 c.75C>G c.(73-75)TTC>TTG p.F25L BAZ1A_uc001wsl.2_Missense_Mutation_p.F25L|BAZ1A_uc001wsm.1_Missense_Mutation_p.F25L NM_013448 NP_038476 Q9NRL2 BAZ1A_HUMAN bromodomain adjacent to zinc finger domain, 1A 25 WAC.|Required for association with the CHRAC1/POLE3 complex.|Required for interaction with NCOR1. chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent ACF complex zinc ion binding lung(2)|central_nervous_system(2)|ovary(1)|breast(1)|skin(1) 7 Breast(36;0.0388)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175) GBM - Glioblastoma multiforme(112;0.0659) CTTTACAGTAGAAAACTTCCT 0.667 NA 4 58 0 0 0 0 MDGA2 161357 broad.mit.edu 37 14 47530684 47530684 + Missense_Mutation SNP T T A TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bb1e4188-130c-4206-8671-d7ce3eb8ee74 bdfb06d0-6d6f-4acd-8520-fade65e20d95 g.chr14:47530684T>A uc001wwj.3 - 7 1282 c.1086A>T c.(1084-1086)GAA>GAT p.E362D MDGA2_uc001wwi.3_Missense_Mutation_p.E133D|MDGA2_uc010ani.2_Translation_Start_Site NM_001113498 NP_001106970 Q7Z553 MDGA2_HUMAN MAM domain containing 1 isoform 1 362 Ig-like 4. spinal cord motor neuron differentiation anchored to membrane|plasma membrane ovary(4)|large_intestine(1)|pancreas(1) 6 AAGGAACAGCTTCTACTTGGC 0.403 NA 40 64 0 0 0 0 DUOX1 53905 broad.mit.edu 37 15 45437213 45437213 + Missense_Mutation SNP G G T TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bb1e4188-130c-4206-8671-d7ce3eb8ee74 bdfb06d0-6d6f-4acd-8520-fade65e20d95 g.chr15:45437213G>T uc001zus.1 + 19 2603 c.2257G>T c.(2257-2259)GCA>TCA p.A753S DUOX1_uc001zut.1_Missense_Mutation_p.A753S|DUOX1_uc010bee.1_Missense_Mutation_p.A133S|DUOX1_uc001zuu.2_5'Flank NM_017434 NP_059130 Q9NRD9 DUOX1_HUMAN dual oxidase 1 precursor 753 Cytoplasmic (Potential). cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity ovary(5)|skin(2)|breast(1) 8 all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717) GCTGATGAGAGCAGCTGTGAC 0.592 NA 7 61 5.18e-06 1.05e-05 1 0 BLM 641 broad.mit.edu 37 15 91312807 91312807 + Missense_Mutation SNP G G C TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bb1e4188-130c-4206-8671-d7ce3eb8ee74 bdfb06d0-6d6f-4acd-8520-fade65e20d95 g.chr15:91312807G>C uc002bpr.2 + 12 2643 c.2546G>C c.(2545-2547)AGA>ACA p.R849T BLM_uc010uqh.1_Missense_Mutation_p.R849T|BLM_uc010uqi.1_Missense_Mutation_p.R474T|BLM_uc010bnx.2_Missense_Mutation_p.R849T|BLM_uc002bps.1_Missense_Mutation_p.R411T NM_000057 NP_000048 P54132 BLM_HUMAN Bloom syndrome protein 849 Helicase ATP-binding. double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray cytoplasm|lateral element|nuclear matrix|nucleolus|PML body ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding ovary(3)|skin(2)|breast(1) 6 Lung NSC(78;0.0875)|all_lung(78;0.109) Lung(145;0.189) AAGATTCTCAGACCTCAGGTG 0.517 NA Mis|N|F leukemia|lymphoma|skin squamous cell |other cancers Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Bloom_syndrome 4 27 0 0 0 0 MSLN 10232 broad.mit.edu 37 16 816458 816458 + Missense_Mutation SNP G G C TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bb1e4188-130c-4206-8671-d7ce3eb8ee74 bdfb06d0-6d6f-4acd-8520-fade65e20d95 g.chr16:816458G>C uc002cjw.1 + 12 1249 c.1198G>C c.(1198-1200)GAA>CAA p.E400Q MSLN_uc002cjt.1_Missense_Mutation_p.E400Q|MSLN_uc002cju.1_Missense_Mutation_p.E400Q|MSLN_uc010brd.1_Missense_Mutation_p.E399Q|MSLN_uc002cjv.1_Missense_Mutation_p.E400Q|MSLN_uc002cjx.1_Missense_Mutation_p.E400Q|MSLN_uc002cjy.1_Missense_Mutation_p.E65Q NM_013404 NP_037536 Q13421 MSLN_HUMAN mesothelin isoform 2 preproprotein 400 cell adhesion anchored to membrane|extracellular region|Golgi apparatus|plasma membrane pancreas(1) 1 Hepatocellular(780;0.00335) GGCTTTGCTTGAAGTCAACAA 0.572 NA 10 62 0 0 0 0 SETD6 79918 broad.mit.edu 37 16 58550236 58550236 + Silent SNP C C T TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bb1e4188-130c-4206-8671-d7ce3eb8ee74 bdfb06d0-6d6f-4acd-8520-fade65e20d95 g.chr16:58550236C>T uc002ens.2 + 3 524 c.465C>T c.(463-465)CAC>CAT p.H155H SETD6_uc010cdl.2_Silent_p.H155H|SETD6_uc002enr.2_Silent_p.H131H|SETD6_uc010cdm.2_RNA|SETD6_uc010vij.1_Silent_p.H79H NM_001160305 NP_001153777 Q8TBK2 SETD6_HUMAN SET domain containing 6 isoform a 155 SET. negative regulation of NF-kappaB transcription factor activity|peptidyl-lysine monomethylation|regulation of inflammatory response nucleus NF-kappaB binding|protein-lysine N-methyltransferase activity ovary(1) 1 GCTTGGAGCACCCGATGTTCT 0.672 NA 5 34 0 0 0 0 FTSJD1 55783 broad.mit.edu 37 16 71318560 71318560 + Nonsense_Mutation SNP T T A TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bb1e4188-130c-4206-8671-d7ce3eb8ee74 bdfb06d0-6d6f-4acd-8520-fade65e20d95 g.chr16:71318560T>A uc010cga.2 - 3 1670 c.1264A>T c.(1264-1266)AAA>TAA p.K422* FTSJD1_uc002ezy.3_Nonsense_Mutation_p.K422*|FTSJD1_uc002ezz.3_Nonsense_Mutation_p.K422* NM_001099642 NP_001093112 Q8IYT2 FTSJ1_HUMAN FtsJ methyltransferase domain containing 1 422 integral to membrane methyltransferase activity|nucleic acid binding skin(1) 1 ATACTAGATTTTTTTACTAGC 0.299 NA 7 62 0 0 0 0 DHODH 1723 broad.mit.edu 37 16 72046004 72046004 + Missense_Mutation SNP C C A TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bb1e4188-130c-4206-8671-d7ce3eb8ee74 bdfb06d0-6d6f-4acd-8520-fade65e20d95 g.chr16:72046004C>A uc002fbp.2 + 2 98 c.77C>A c.(76-78)TCC>TAC p.S26Y DHODH_uc010cgk.2_RNA NM_001361 NP_001352 Q02127 PYRD_HUMAN dihydroorotate dehydrogenase precursor 26 Helical; (By similarity). 'de novo' pyrimidine base biosynthetic process|pyrimidine nucleoside biosynthetic process|UMP biosynthetic process integral to membrane|mitochondrial inner membrane dihydroorotate oxidase activity 0 Ovarian(137;0.125) Atovaquone(DB01117)|Leflunomide(DB01097) CTCTTCGCCTCCTACCTGATG 0.602 NA 16 105 1.36e-06 2.77e-06 1 0 CDT1 81620 broad.mit.edu 37 16 88873832 88873832 + Silent SNP C C G TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bb1e4188-130c-4206-8671-d7ce3eb8ee74 bdfb06d0-6d6f-4acd-8520-fade65e20d95 g.chr16:88873832C>G uc002flu.2 + 9 1473 c.1419C>G c.(1417-1419)CTC>CTG p.L473L NM_030928 NP_112190 Q9H211 CDT1_HUMAN chromatin licensing and DNA replication factor 473 DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|regulation of DNA-dependent DNA replication initiation|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle cytosol|nucleoplasm DNA binding|protein binding central_nervous_system(1) 1 BRCA - Breast invasive adenocarcinoma(80;0.0476) AGCCTGCGCTCAGCATGGAGG 0.657 NA 5 47 0 0 0 0 ALOX12 239 broad.mit.edu 37 17 6909233 6909233 + Silent SNP G G A rs114312186 byFrequency TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bb1e4188-130c-4206-8671-d7ce3eb8ee74 bdfb06d0-6d6f-4acd-8520-fade65e20d95 g.chr17:6909233G>A uc002gdx.3 + 10 1358 c.1305G>A c.(1303-1305)CAG>CAA p.Q435Q uc002gdy.1_Intron NM_000697 NP_000688 P18054 LOX12_HUMAN arachidonate 12-lipoxygenase 435 Lipoxygenase. anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation cytosol|sarcolemma arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding central_nervous_system(1) 1 CGGCAGCTCAGCTGACCTACT 0.632 NA 3 27 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7578532 7578532 + Missense_Mutation SNP A A T rs28934873 TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bb1e4188-130c-4206-8671-d7ce3eb8ee74 bdfb06d0-6d6f-4acd-8520-fade65e20d95 g.chr17:7578532A>T uc002gim.2 - 5 592 c.398T>A c.(397-399)ATG>AAG p.M133K TP53_uc002gig.1_Missense_Mutation_p.M133K|TP53_uc002gih.2_Missense_Mutation_p.M133K|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.M1K|TP53_uc010cng.1_Missense_Mutation_p.M1K|TP53_uc002gii.1_Missense_Mutation_p.M1K|TP53_uc010cnh.1_Missense_Mutation_p.M133K|TP53_uc010cni.1_Missense_Mutation_p.M133K|TP53_uc002gij.2_Missense_Mutation_p.M133K|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.M40K|TP53_uc002gio.2_Missense_Mutation_p.M1K|TP53_uc010vug.1_Missense_Mutation_p.M94K NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 133 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). KM -> NL (in a sporadic cancer; somatic mutation).|M -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> V (in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> I (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.M133K(12)|p.0?(7)|p.M133R(5)|p.M133fs*37(3)|p.M133I(3)|p.M133L(2)|p.N131fs*27(2)|p.M133T(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.Y126fs*11(1)|p.M133V(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.L130_M133delLNKM(1)|p.M133fs*16(1)|p.M133fs*13(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) TTGGCAAAACATCTTGTTGAG 0.562 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 18 12 0 0 0 0 STX8 9482 broad.mit.edu 37 17 9448488 9448488 + Splice_Site SNP C C T TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bb1e4188-130c-4206-8671-d7ce3eb8ee74 bdfb06d0-6d6f-4acd-8520-fade65e20d95 g.chr17:9448488C>T uc002glx.2 - 4 473 c.323_splice c.e4+1 p.R108_splice NM_004853 NP_004844 Q9UNK0 STX8_HUMAN syntaxin 8 transport endoplasmic reticulum|integral to plasma membrane central_nervous_system(1) 1 AAACATCCTACCTGATTAGAT 0.418 NA 5 36 0 0 0 0 DNAH9 1770 broad.mit.edu 37 17 11511572 11511572 + Missense_Mutation SNP G G A TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bb1e4188-130c-4206-8671-d7ce3eb8ee74 bdfb06d0-6d6f-4acd-8520-fade65e20d95 g.chr17:11511572G>A uc002gne.2 + 2 612 c.544G>A c.(544-546)GGA>AGA p.G182R DNAH9_uc002gnd.1_Missense_Mutation_p.G182R NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 182 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) GCAAGTGAAGGGAAAAACTTT 0.512 NA 10 118 0 0 0 0 CNP 1267 broad.mit.edu 37 17 40125676 40125676 + Missense_Mutation SNP G G A TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bb1e4188-130c-4206-8671-d7ce3eb8ee74 bdfb06d0-6d6f-4acd-8520-fade65e20d95 g.chr17:40125676G>A uc002hyl.1 + 4 1144 c.1000G>A c.(1000-1002)GGC>AGC p.G334S CNP_uc010wfz.1_Missense_Mutation_p.G211S|CNP_uc002hym.1_Missense_Mutation_p.G314S|CNP_uc010wga.1_Missense_Mutation_p.G99S|CNP_uc002hyn.1_Missense_Mutation_p.G99S NM_033133 NP_149124 P09543 CN37_HUMAN 2',3'-cyclic nucleotide 3' phosphodiesterase 334 cell killing|cyclic nucleotide catabolic process|RNA metabolic process|synaptic transmission extracellular space|melanosome 2',3'-cyclic-nucleotide 3'-phosphodiesterase activity|ATP binding|protein binding 0 all_cancers(22;2.38e-06)|all_epithelial(22;6.79e-05)|Breast(137;0.000143) UCEC - Uterine corpus endometrioid carcinoma (308;0.171) CATCACCCTCGGCTGTGCAGC 0.647 NA 7 38 0 0 0 0 NMT1 4836 broad.mit.edu 37 17 43175850 43175850 + Missense_Mutation SNP C C T TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bb1e4188-130c-4206-8671-d7ce3eb8ee74 bdfb06d0-6d6f-4acd-8520-fade65e20d95 g.chr17:43175850C>T uc002ihz.2 + 7 832 c.814C>T c.(814-816)CAC>TAC p.H272Y NMT1_uc002iia.2_RNA NM_021079 NP_066565 P30419 NMT1_HUMAN N-myristoyltransferase 1 272 activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation actin cytoskeleton|cell junction|cytosol glycylpeptide N-tetradecanoyltransferase activity 0 Prostate(33;0.155) CAGGCGGGTTCACCTGGAGGG 0.527 NA 11 100 0 0 0 0 MYO5B 4645 broad.mit.edu 37 18 47373592 47373592 + Silent SNP C C T TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bb1e4188-130c-4206-8671-d7ce3eb8ee74 bdfb06d0-6d6f-4acd-8520-fade65e20d95 g.chr18:47373592C>T uc002leb.2 - 33 4671 c.4383G>A c.(4381-4383)CGG>CGA p.R1461R MYO5B_uc002ldz.2_Silent_p.R31R|MYO5B_uc002lea.2_Silent_p.R576R NM_001080467 NP_001073936 Q9ULV0 MYO5B_HUMAN myosin VB 1461 Potential. protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity ovary(2)|skin(2)|central_nervous_system(1) 5 READ - Rectum adenocarcinoma(32;0.103) CCTTCTCTTTCCGCTGGACCG 0.572 NA 8 26 0 0 0 0 MUC16 94025 broad.mit.edu 37 19 9048921 9048921 + Missense_Mutation SNP C C T TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bb1e4188-130c-4206-8671-d7ce3eb8ee74 bdfb06d0-6d6f-4acd-8520-fade65e20d95 g.chr19:9048921C>T uc002mkp.2 - 5 32914 c.32710G>A c.(32710-32712)GAG>AAG p.E10904K NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 10906 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GGTGTGGTCTCTGGTTCACCA 0.502 NA 14 65 0 0 0 0 CHERP 10523 broad.mit.edu 37 19 16629998 16629998 + Missense_Mutation SNP C C G TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bb1e4188-130c-4206-8671-d7ce3eb8ee74 bdfb06d0-6d6f-4acd-8520-fade65e20d95 g.chr19:16629998C>G uc002nei.1 - 17 2797 c.2723G>C c.(2722-2724)CGC>CCC p.R908P MED26_uc002nee.2_RNA|C19orf44_uc002neh.1_Intron|C19orf44_uc010eai.1_Intron|CHERP_uc010xpg.1_Missense_Mutation_p.R447P NM_006387 NP_006378 Q8IWX8 CHERP_HUMAN calcium homeostasis endoplasmic reticulum 908 cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing endoplasmic reticulum|perinuclear region of cytoplasm RNA binding ovary(2) 2 GGCCTTCATGCGGGCGATGAA 0.637 NA 3 13 0 0 0 0 SPTBN4 57731 broad.mit.edu 37 19 40993612 40993612 + Missense_Mutation SNP G G A TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bb1e4188-130c-4206-8671-d7ce3eb8ee74 bdfb06d0-6d6f-4acd-8520-fade65e20d95 g.chr19:40993612G>A uc002ony.2 + 3 264 c.178G>A c.(178-180)GAA>AAA p.E60K SPTBN4_uc002onx.2_Missense_Mutation_p.E60K|SPTBN4_uc002onz.2_Missense_Mutation_p.E60K NM_020971 NP_066022 Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 isoform 60 Actin-binding. actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton ovary(3)|central_nervous_system(1)|skin(1) 5 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) AGATGAGCGGGAAGCCGTGCA 0.647 NA 8 103 0 0 0 0 PSG6 5675 broad.mit.edu 37 19 43414874 43414874 + Missense_Mutation SNP C C T TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bb1e4188-130c-4206-8671-d7ce3eb8ee74 bdfb06d0-6d6f-4acd-8520-fade65e20d95 g.chr19:43414874C>T uc002ovj.1 - 3 616 c.564G>A c.(562-564)ATG>ATA p.M188I PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Missense_Mutation_p.M195I|PSG6_uc002ovi.2_Missense_Mutation_p.M189I|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG6_uc002ove.1_5'UTR|PSG6_uc002ovf.1_Missense_Mutation_p.M188I|PSG6_uc002ovg.1_Missense_Mutation_p.M188I NM_002782 NP_002773 Q00889 PSG6_HUMAN pregnancy specific beta-1-glycoprotein 6 isoform 188 Ig-like C2-type 1. female pregnancy extracellular region ovary(1)|skin(1) 2 Prostate(69;0.00899) ACCTGTGAGTCATAGGGAGGT 0.493 NA 86 145 0 0 0 0 FTL 2512 broad.mit.edu 37 19 49468783 49468783 + Nonsense_Mutation SNP C C T TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bb1e4188-130c-4206-8671-d7ce3eb8ee74 bdfb06d0-6d6f-4acd-8520-fade65e20d95 g.chr19:49468783C>T uc002plo.2 + 1 218 c.19C>T c.(19-21)CAG>TAG p.Q7* FTL_uc002pln.1_Nonsense_Mutation_p.Q7* NM_000146 NP_000137 P02792 FRIL_HUMAN ferritin, light polypeptide 7 Ferritin-like diiron. cell death|cellular iron ion homeostasis|cellular membrane organization|iron ion transport|post-Golgi vesicle-mediated transport cytosol|intracellular ferritin complex ferric iron binding|identical protein binding|oxidoreductase activity 0 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000152)|all cancers(93;0.000435)|GBM - Glioblastoma multiforme(486;0.0171)|Epithelial(262;0.0267) Iron Dextran(DB00893) CCAGATTCGTCAGAATTATTC 0.567 NA 69 52 0 0 0 0 LILRA5 353514 broad.mit.edu 37 19 54823872 54823872 + Missense_Mutation SNP G G C TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bb1e4188-130c-4206-8671-d7ce3eb8ee74 bdfb06d0-6d6f-4acd-8520-fade65e20d95 g.chr19:54823872G>C uc002qfe.2 - 2 143 c.23C>G c.(22-24)TCT>TGT p.S8C LILRA5_uc002qff.2_Missense_Mutation_p.S8C|LILRA5_uc010yev.1_Missense_Mutation_p.S8C|LILRA5_uc010yew.1_Missense_Mutation_p.S8C|LILRA5_uc002qfh.1_Missense_Mutation_p.S8C|LILRA5_uc002qfg.1_Missense_Mutation_p.S8C NM_021250 NP_067073 A6NI73 LIRA5_HUMAN leukocyte immunoglobulin-like receptor subfamily 8 innate immune response extracellular region|integral to membrane receptor activity upper_aerodigestive_tract(1) 1 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) CAGCTGTGCAGATGGATGAGA 0.597 NA 5 40 0 0 0 0 SLC27A5 10998 broad.mit.edu 37 19 59011756 59011756 + Missense_Mutation SNP G G T TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bb1e4188-130c-4206-8671-d7ce3eb8ee74 bdfb06d0-6d6f-4acd-8520-fade65e20d95 g.chr19:59011756G>T uc002qtc.2 - 6 1528 c.1418C>A c.(1417-1419)GCG>GAG p.A473E SLC27A5_uc002qtb.2_5'Flank NM_012254 NP_036386 Q9Y2P5 S27A5_HUMAN solute carrier family 27 (fatty acid 473 Cytoplasmic (Probable). bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process endoplasmic reticulum membrane|integral to membrane ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity 0 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181) AGGCTCCGCCGCCTCCATGTC 0.627 NA 10 48 1.05e-09 2.19e-09 1 0 ANKRD36 375248 broad.mit.edu 37 2 97808556 97808556 + Silent SNP A A G TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bb1e4188-130c-4206-8671-d7ce3eb8ee74 bdfb06d0-6d6f-4acd-8520-fade65e20d95 g.chr2:97808556A>G uc010yva.1 + 8 1129 c.885A>G c.(883-885)GGA>GGG p.G295G ANKRD36_uc010yuz.1_RNA|ANKRD36_uc010fic.2_Intron|ANKRD36_uc002sxo.2_Intron|ANKRD36_uc002sxp.3_RNA NM_001164315 NP_001157787 A6QL64 AN36A_HUMAN ankyrin repeat domain 36 295 0 TAAAGGATGGACAAAAATCTG 0.318 NA 2 3 0 0 0 0 SLC9A4 389015 broad.mit.edu 37 2 103120006 103120006 + Missense_Mutation SNP G G A TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bb1e4188-130c-4206-8671-d7ce3eb8ee74 bdfb06d0-6d6f-4acd-8520-fade65e20d95 g.chr2:103120006G>A uc002tbz.3 + 3 1277 c.820G>A c.(820-822)GGG>AGG p.G274R NM_001011552 NP_001011552 Q6AI14 SL9A4_HUMAN solute carrier family 9 (sodium/hydrogen 274 Helical; Name=H/M6; (Potential). regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity skin(2)|central_nervous_system(1) 3 CATCGTTGTGGGGCTTGGAGG 0.393 NA 8 46 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179594065 179594065 + Missense_Mutation SNP A A G TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bb1e4188-130c-4206-8671-d7ce3eb8ee74 bdfb06d0-6d6f-4acd-8520-fade65e20d95 g.chr2:179594065A>G uc010zfg.1 - 61 15310 c.15086T>C c.(15085-15087)GTA>GCA p.V5029A TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.V1690A NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 5956 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) TTCATTGGATACAATGCACTG 0.433 NA 11 63 0 0 0 0 NCKAP1 10787 broad.mit.edu 37 2 183790481 183790481 + Silent SNP C C G TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bb1e4188-130c-4206-8671-d7ce3eb8ee74 bdfb06d0-6d6f-4acd-8520-fade65e20d95 g.chr2:183790481C>G uc002upc.2 - 31 3738 c.3336G>C c.(3334-3336)CTG>CTC p.L1112L NCKAP1_uc002upb.2_Silent_p.L1118L NM_013436 NP_038464 Q9Y2A7 NCKP1_HUMAN NCK-associated protein 1 isoform 1 1112 apoptosis|central nervous system development integral to membrane|lamellipodium membrane protein binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209) ATGCATTTCTCAGCAAGACAT 0.323 NA 7 78 0 0 0 0 ZNF804A 91752 broad.mit.edu 37 2 185800736 185800736 + Missense_Mutation SNP C C A TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bb1e4188-130c-4206-8671-d7ce3eb8ee74 bdfb06d0-6d6f-4acd-8520-fade65e20d95 g.chr2:185800736C>A uc002uph.2 + 4 1207 c.613C>A c.(613-615)CAG>AAG p.Q205K NM_194250 NP_919226 Q7Z570 Z804A_HUMAN zinc finger protein 804A 205 intracellular zinc ion binding ovary(6)|skin(3)|large_intestine(1)|pancreas(1) 11 GGATCAAGCCCAGGGGATTCA 0.418 NA 23 56 1.97e-08 4.05e-08 1 0 COL5A2 1290 broad.mit.edu 37 2 189898825 189898825 + Missense_Mutation SNP C C T TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bb1e4188-130c-4206-8671-d7ce3eb8ee74 bdfb06d0-6d6f-4acd-8520-fade65e20d95 g.chr2:189898825C>T uc002uqk.2 - 54 4746 c.4471G>A c.(4471-4473)GTT>ATT p.V1491I COL5A2_uc010frx.2_Missense_Mutation_p.V1067I NM_000393 NP_000384 P05997 CO5A2_HUMAN alpha 2 type V collagen preproprotein 1491 Fibrillar collagen NC1. axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) CCAATTTCAACGCCGAATTCC 0.473 NA 7 51 0 0 0 0 RAPH1 65059 broad.mit.edu 37 2 204305402 204305402 + Silent SNP C C G rs144494517 TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bb1e4188-130c-4206-8671-d7ce3eb8ee74 bdfb06d0-6d6f-4acd-8520-fade65e20d95 g.chr2:204305402C>G uc002vad.2 - 14 2736 c.2511G>C c.(2509-2511)CCG>CCC p.P837P NM_213589 NP_998754 Q70E73 RAPH1_HUMAN Ras association and pleckstrin homology domains 837 cell-matrix adhesion|signal transduction cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane ovary(3)|breast(3)|central_nervous_system(2)|lung(1)|skin(1) 10 GTAATGTTGGCGGGGGTACTG 0.582 NA 7 34 0 0 0 0 BTG3 10950 broad.mit.edu 37 21 18981460 18981460 + Missense_Mutation SNP C C A TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bb1e4188-130c-4206-8671-d7ce3eb8ee74 bdfb06d0-6d6f-4acd-8520-fade65e20d95 g.chr21:18981460C>A uc002ykk.2 - 2 263 c.3G>T c.(1-3)ATG>ATT p.M1I BTG3_uc002ykl.2_Missense_Mutation_p.M1I NM_006806 NP_006797 Q14201 BTG3_HUMAN B-cell translocation gene 3 isoform b 1 negative regulation of cell proliferation|negative regulation of mitotic cell cycle cytoplasm 0 Epithelial(23;0.000283)|all cancers(11;0.0012)|Lung(58;0.0191)|OV - Ovarian serous cystadenocarcinoma(11;0.0206)|COAD - Colon adenocarcinoma(22;0.0315)|LUSC - Lung squamous cell carcinoma(23;0.0703)|Colorectal(24;0.0971) TTTCATTCTTCATTTTTTTCC 0.348 NA 33 35 5.83e-16 1.24e-15 1 0 TRPM2 7226 broad.mit.edu 37 21 45833913 45833913 + Silent SNP C C G TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bb1e4188-130c-4206-8671-d7ce3eb8ee74 bdfb06d0-6d6f-4acd-8520-fade65e20d95 g.chr21:45833913C>G uc002zet.1 + 21 3315 c.3102C>G c.(3100-3102)CTC>CTG p.L1034L TRPM2_uc002zeu.1_Silent_p.L1034L|TRPM2_uc002zew.1_Silent_p.L1034L|TRPM2_uc010gpt.1_Silent_p.L1034L|TRPM2_uc002zex.1_Silent_p.L820L|TRPM2_uc002zey.1_Silent_p.L547L NM_003307 NP_003298 O94759 TRPM2_HUMAN transient receptor potential cation channel, 1034 Helical; (Potential). integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity ovary(1)|central_nervous_system(1)|pancreas(1) 3 TCTACCTGCTCTTCACCAACA 0.657 NA 38 299 0 0 0 0 XIRP1 165904 broad.mit.edu 37 3 39230859 39230859 + Silent SNP T T G TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bb1e4188-130c-4206-8671-d7ce3eb8ee74 bdfb06d0-6d6f-4acd-8520-fade65e20d95 g.chr3:39230859T>G uc003cjk.1 - 2 299 c.78A>C c.(76-78)CCA>CCC p.P26P XIRP1_uc003cji.2_Silent_p.P26P|XIRP1_uc003cjj.2_Intron NM_194293 NP_919269 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 26 Interaction with VASP.|Poly-Pro. actin binding ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1) 8 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) GGGCTGGGGGTGGAGGGAGGG 0.637 NA 5 7 0 0 0 0 TMEM22 80723 broad.mit.edu 37 3 136573702 136573702 + Missense_Mutation SNP C C G TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bb1e4188-130c-4206-8671-d7ce3eb8ee74 bdfb06d0-6d6f-4acd-8520-fade65e20d95 g.chr3:136573702C>G uc003erf.3 + 2 614 c.400C>G c.(400-402)CTA>GTA p.L134V TMEM22_uc003erg.3_Missense_Mutation_p.L134V|TMEM22_uc010hub.2_Missense_Mutation_p.L134V NM_001097600 NP_001091069 Q8TBE7 TMM22_HUMAN transmembrane protein 22 134 DUF6 1.|Helical; (Potential). Golgi apparatus|integral to membrane ovary(1) 1 AGTTCCATCTCTAGAACTGAT 0.428 NA 31 226 0 0 0 0 MECOM 2122 broad.mit.edu 37 3 168838959 168838959 + Silent SNP G G A TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bb1e4188-130c-4206-8671-d7ce3eb8ee74 bdfb06d0-6d6f-4acd-8520-fade65e20d95 g.chr3:168838959G>A uc003ffi.3 - 6 722 c.453C>T c.(451-453)CGC>CGT p.R151R MECOM_uc010hwk.1_Silent_p.R174R|MECOM_uc003ffj.3_Silent_p.R216R|MECOM_uc011bpi.1_Silent_p.R152R|MECOM_uc003ffn.3_Silent_p.R151R|MECOM_uc003ffk.2_Silent_p.R151R|MECOM_uc003ffl.2_Silent_p.R311R|MECOM_uc011bpj.1_Silent_p.R339R|MECOM_uc011bpk.1_Silent_p.R141R|MECOM_uc010hwn.2_Silent_p.R339R NM_005241 NP_005232 Q03112 EVI1_HUMAN MDS1 and EVI1 complex locus isoform b 151 Interaction with MAPK9, SMAD3 and probably SUV39H1.|C2H2-type 4. apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle nuclear speck DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1) 14 CATGCTGAGAGCGAATGTGCC 0.517 NA 39 22 0 0 0 0 MCF2L2 23101 broad.mit.edu 37 3 183017859 183017859 + Silent SNP G G A TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bb1e4188-130c-4206-8671-d7ce3eb8ee74 bdfb06d0-6d6f-4acd-8520-fade65e20d95 g.chr3:183017859G>A uc003fli.1 - 11 1329 c.1239C>T c.(1237-1239)ATC>ATT p.I413I MCF2L2_uc003flj.1_Silent_p.I413I|MCF2L2_uc011bqr.1_RNA|MCF2L2_uc003flp.1_3'UTR NM_015078 NP_055893 Q86YR7 MF2L2_HUMAN Rho family guanine-nucleotide exchange factor 413 Spectrin. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity ovary(2)|large_intestine(2)|breast(1) 5 all_cancers(143;1.26e-12)|Ovarian(172;0.0355) all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) TGTTTCCATTGATGAAATCGT 0.488 NA 17 104 0 0 0 0 PAK2 5062 broad.mit.edu 37 3 196529909 196529909 + Missense_Mutation SNP C C G TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bb1e4188-130c-4206-8671-d7ce3eb8ee74 bdfb06d0-6d6f-4acd-8520-fade65e20d95 g.chr3:196529909C>G uc003fwy.3 + 4 632 c.310C>G c.(310-312)CGA>GGA p.R104G NM_002577 NP_002568 Q13177 PAK2_HUMAN p21-activated kinase 2 104 GTPase-binding (By similarity).|Autoregulatory region (By similarity). axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity ovary(1)|lung(1) 2 all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00405) ACAGTGGGCTCGATTACTACA 0.378 NA 4 90 0 0 0 0 STX18 53407 broad.mit.edu 37 4 4426946 4426946 + Missense_Mutation SNP C C T TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bb1e4188-130c-4206-8671-d7ce3eb8ee74 bdfb06d0-6d6f-4acd-8520-fade65e20d95 g.chr4:4426946C>T uc003gic.2 - 8 790 c.706G>A c.(706-708)GAA>AAA p.E236K NM_016930 NP_058626 Q9P2W9 STX18_HUMAN syntaxin 18 236 Cytoplasmic (Potential). ER to Golgi vesicle-mediated transport|intracellular protein transport endoplasmic reticulum membrane|Golgi membrane|integral to membrane SNAP receptor activity 0 UCEC - Uterine corpus endometrioid carcinoma (64;0.0534) TTTTCCTGTTCAAACTGTGAG 0.448 NA 5 33 0 0 0 0 ANKRD17 26057 broad.mit.edu 37 4 73957032 73957032 + Missense_Mutation SNP G G C TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bb1e4188-130c-4206-8671-d7ce3eb8ee74 bdfb06d0-6d6f-4acd-8520-fade65e20d95 g.chr4:73957032G>C uc003hgp.2 - 29 6430 c.6313C>G c.(6313-6315)CAT>GAT p.H2105D ANKRD17_uc003hgo.2_Missense_Mutation_p.H1992D|ANKRD17_uc003hgq.2_Missense_Mutation_p.H1854D|ANKRD17_uc003hgr.2_Missense_Mutation_p.H2104D NM_032217 NP_115593 O75179 ANR17_HUMAN ankyrin repeat domain protein 17 isoform a 2105 Ser-rich. interspecies interaction between organisms cytoplasm|nucleus RNA binding ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1) 10 Breast(15;0.000295) Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) TGATTAGAATGAGCTGATGAA 0.498 NA 11 124 0 0 0 0 TACR3 6870 broad.mit.edu 37 4 104579371 104579371 + Splice_Site SNP C C T TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bb1e4188-130c-4206-8671-d7ce3eb8ee74 bdfb06d0-6d6f-4acd-8520-fade65e20d95 g.chr4:104579371C>T uc003hxe.1 - 2 880 c.737_splice c.e2+1 p.T246_splice NM_001059 NP_001050 P29371 NK3R_HUMAN tachykinin receptor 3 integral to plasma membrane tachykinin receptor activity ovary(3)|lung(2)|breast(1)|skin(1) 7 Hepatocellular(203;0.217) UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08) AATTAACTTACGTGAAATGTT 0.393 NA 16 50 0 0 0 0 PCDH10 57575 broad.mit.edu 37 4 134072862 134072862 + Missense_Mutation SNP G G A TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bb1e4188-130c-4206-8671-d7ce3eb8ee74 bdfb06d0-6d6f-4acd-8520-fade65e20d95 g.chr4:134072862G>A uc003iha.2 + 1 2393 c.1567G>A c.(1567-1569)GGC>AGC p.G523S uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.G523S NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN protocadherin 10 isoform 1 precursor 523 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(193;0.227) CTCTGAGAACGGCTACTTGTA 0.602 NA 17 68 0 0 0 0 FSTL5 56884 broad.mit.edu 37 4 163032465 163032465 + Silent SNP A A G TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bb1e4188-130c-4206-8671-d7ce3eb8ee74 bdfb06d0-6d6f-4acd-8520-fade65e20d95 g.chr4:163032465A>G uc003iqh.2 - 2 520 c.84T>C c.(82-84)TAT>TAC p.Y28Y FSTL5_uc003iqi.2_Silent_p.Y28Y|FSTL5_uc010iqv.2_Silent_p.Y28Y NM_020116 NP_064501 Q8N475 FSTL5_HUMAN follistatin-like 5 isoform a 28 extracellular region calcium ion binding ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1) 8 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) ATTTAAGGCCATATCCTCCTT 0.408 NA 14 116 0 0 0 0 FBN2 2201 broad.mit.edu 37 5 127595501 127595501 + Silent SNP C C T TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bb1e4188-130c-4206-8671-d7ce3eb8ee74 bdfb06d0-6d6f-4acd-8520-fade65e20d95 g.chr5:127595501C>T uc003kuu.2 - 65 8824 c.8385G>A c.(8383-8385)GAG>GAA p.E2795E NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 2795 bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1) 15 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) TGTCGACACTCTCTAGGCTGA 0.537 NA 11 68 0 0 0 0 PCDHA10 56139 broad.mit.edu 37 5 140237196 140237196 + Silent SNP G G A TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bb1e4188-130c-4206-8671-d7ce3eb8ee74 bdfb06d0-6d6f-4acd-8520-fade65e20d95 g.chr5:140237196G>A uc003lhx.2 + 1 1563 c.1563G>A c.(1561-1563)CCG>CCA p.P521P 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_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Silent_p.P521P|PCDHA10_uc011dad.1_Silent_p.P521P NM_018901 NP_061724 Q9Y5I2 PCDAA_HUMAN protocadherin alpha 10 isoform 1 precursor 521 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding ovary(2)|skin(2)|breast(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCTGCAGCCGCTGGACCACG 0.677 NA 9 82 0 0 0 0 PCDHGC3 5098 broad.mit.edu 37 5 140856119 140856119 + Missense_Mutation SNP G G A TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bb1e4188-130c-4206-8671-d7ce3eb8ee74 bdfb06d0-6d6f-4acd-8520-fade65e20d95 g.chr5:140856119G>A uc003lkv.1 + 1 551 c.436G>A c.(436-438)GAG>AAG p.E146K PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lku.1_Missense_Mutation_p.E146K|PCDHGC3_uc003lkw.1_Intron NM_002588 NP_002579 Q9UN70 PCDGK_HUMAN protocadherin gamma subfamily C, 3 isoform 1 146 Cadherin 2.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGAGATTAGCGAGGCCGTGGC 0.547 NA 7 44 0 0 0 0 CDHR2 54825 broad.mit.edu 37 5 176011455 176011455 + Missense_Mutation SNP G G A TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bb1e4188-130c-4206-8671-d7ce3eb8ee74 bdfb06d0-6d6f-4acd-8520-fade65e20d95 g.chr5:176011455G>A uc003mem.1 + 19 2239 c.2173G>A c.(2173-2175)GAA>AAA p.E725K CDHR2_uc003men.1_Missense_Mutation_p.E725K NM_017675 NP_060145 Q9BYE9 CDHR2_HUMAN protocadherin LKC precursor 725 Cadherin 7.|Extracellular (Potential). homophilic cell adhesion|negative regulation of cell growth apical plasma membrane|cell junction|integral to membrane calcium ion binding|protein binding ovary(2) 2 GGACCAGACGGAAGCCAACAA 0.637 NA 10 78 0 0 0 0 F12 2161 broad.mit.edu 37 5 176829658 176829658 + Missense_Mutation SNP G G A TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bb1e4188-130c-4206-8671-d7ce3eb8ee74 bdfb06d0-6d6f-4acd-8520-fade65e20d95 g.chr5:176829658G>A uc003mgo.3 - 13 1622 c.1573C>T c.(1573-1575)CCG>TCG p.P525S PFN3_uc003mgl.2_5'Flank|F12_uc011dfy.1_Silent_p.Y55Y|F12_uc003mgn.3_Silent_p.Y55Y|F12_uc010jkl.2_RNA NM_000505 NP_000496 P00748 FA12_HUMAN coagulation factor XII precursor 525 Peptidase S1. Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation extracellular space|plasma membrane serine-type endopeptidase activity 0 all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GAGAGGAACGGTACCTGCGCC 0.662 NA Hereditary_Angioedema 7 23 0 0 0 0 AGXT2L2 85007 broad.mit.edu 37 5 177649532 177649532 + Missense_Mutation SNP C C T TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bb1e4188-130c-4206-8671-d7ce3eb8ee74 bdfb06d0-6d6f-4acd-8520-fade65e20d95 g.chr5:177649532C>T uc003miz.2 - 8 1003 c.751G>A c.(751-753)GGC>AGC p.G251S AGXT2L2_uc003miy.2_Intron|AGXT2L2_uc003mjc.2_Missense_Mutation_p.G210S|AGXT2L2_uc003mja.2_RNA|AGXT2L2_uc003mjb.2_Intron|AGXT2L2_uc003mjd.1_Missense_Mutation_p.G109S NM_153373 NP_699204 Q8IUZ5 AT2L2_HUMAN alanine-glyoxylate aminotransferase 2-like 2 251 mitochondrion pyridoxal phosphate binding|transaminase activity pancreas(1) 1 all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.181)|all cancers(165;0.235) L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114) CGGCCAAAGCCAACCTGGATC 0.488 NA 12 45 0 0 0 0 GSTA1 2938 broad.mit.edu 37 6 52662432 52662432 + Missense_Mutation SNP C C T TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bb1e4188-130c-4206-8671-d7ce3eb8ee74 bdfb06d0-6d6f-4acd-8520-fade65e20d95 g.chr6:52662432C>T uc003paz.2 - 3 203 c.91G>A c.(91-93)GAA>AAA p.E31K NM_145740 NP_665683 P08263 GSTA1_HUMAN glutathione S-transferase alpha 1 31 GST N-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) AATTTCTCTTCAAACTGGAAG 0.368 NA 6 43 0 0 0 0 LAMB4 22798 broad.mit.edu 37 7 107752371 107752371 + Silent SNP G G A TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bb1e4188-130c-4206-8671-d7ce3eb8ee74 bdfb06d0-6d6f-4acd-8520-fade65e20d95 g.chr7:107752371G>A uc010ljo.1 - 4 297 c.213C>T c.(211-213)ATC>ATT p.I71I LAMB4_uc003vey.2_Silent_p.I71I NM_007356 NP_031382 A4D0S4 LAMB4_HUMAN laminin, beta 4 precursor 71 Laminin N-terminal. cell adhesion basement membrane ovary(4)|breast(2)|large_intestine(1)|skin(1) 8 TAGAGTCACAGATGAAGCATT 0.348 NA 13 86 0 0 0 0 THAP5 168451 broad.mit.edu 37 7 108204640 108204640 + Missense_Mutation SNP T T A TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bb1e4188-130c-4206-8671-d7ce3eb8ee74 bdfb06d0-6d6f-4acd-8520-fade65e20d95 g.chr7:108204640T>A uc003vfm.2 - 3 1337 c.1183A>T c.(1183-1185)ATA>TTA p.I395L THAP5_uc003vfl.2_Missense_Mutation_p.I353L NM_001130475 NP_001123947 Q7Z6K1 THAP5_HUMAN THAP domain containing 5 isoform 1 395 cell cycle|negative regulation of cell cycle nucleus DNA binding|metal ion binding|protease binding 0 TTATTCTATATCATAGTGACT 0.328 NA 14 22 0 0 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110448632 110448632 + Nonsense_Mutation SNP G G T TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bb1e4188-130c-4206-8671-d7ce3eb8ee74 bdfb06d0-6d6f-4acd-8520-fade65e20d95 g.chr8:110448632G>T uc003yne.2 + 30 3675 c.3571G>T c.(3571-3573)GAA>TAA p.E1191* NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 1191 Extracellular (Potential).|IPT/TIG 5. immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) AGTTGGAAATGAAACCTGCAA 0.358 NA HNSCC(38;0.096) 22 36 7.42e-09 1.54e-08 1 0 EIF2C2 27161 broad.mit.edu 37 8 141566084 141566084 + Missense_Mutation SNP C C T TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bb1e4188-130c-4206-8671-d7ce3eb8ee74 bdfb06d0-6d6f-4acd-8520-fade65e20d95 g.chr8:141566084C>T uc003yvn.2 - 10 1220 c.1180G>A c.(1180-1182)GTC>ATC p.V394I EIF2C2_uc010men.2_Missense_Mutation_p.V317I|EIF2C2_uc010meo.2_Missense_Mutation_p.V394I NM_012154 NP_036286 Q9UKV8 AGO2_HUMAN argonaute 2 isoform 1 394 mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|mRNA cap binding complex|nucleus|polysome|RNA-induced silencing complex endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|RNA 7-methylguanosine cap binding|siRNA binding|translation initiation factor activity 0 all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155) Breast(495;0.159) BRCA - Breast invasive adenocarcinoma(115;0.158) AATTCACGGACGTATGGATCT 0.562 NA 10 80 0 0 0 0 C9orf93 203238 broad.mit.edu 37 9 15920346 15920346 + Missense_Mutation SNP C C T TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bb1e4188-130c-4206-8671-d7ce3eb8ee74 bdfb06d0-6d6f-4acd-8520-fade65e20d95 g.chr9:15920346C>T uc003zmd.2 + 25 3994 c.3679C>T c.(3679-3681)CAT>TAT p.H1227Y C9orf93_uc003zme.2_Missense_Mutation_p.H1142Y|C9orf93_uc011lmu.1_Missense_Mutation_p.H1235Y NM_173550 NP_775821 Q6TFL3 CI093_HUMAN hypothetical protein LOC203238 1227 Potential. 0 GBM - Glioblastoma multiforme(50;4.84e-07) AATGACATCTCATCGAAGTCA 0.343 NA 11 30 0 0 0 0 PRUNE2 158471 broad.mit.edu 37 9 79321541 79321541 + Silent SNP A A G TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bb1e4188-130c-4206-8671-d7ce3eb8ee74 bdfb06d0-6d6f-4acd-8520-fade65e20d95 g.chr9:79321541A>G uc010mpk.2 - 8 5773 c.5649T>C c.(5647-5649)TAT>TAC p.Y1883Y PRUNE2_uc004akj.3_5'Flank|PRUNE2_uc010mpl.1_5'Flank NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN prune homolog 2 1883 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity 0 AAGGATTAGTATAGTGTGTTT 0.473 NA 17 14 0 0 0 0 TLE4 7091 broad.mit.edu 37 9 82334979 82334979 + Missense_Mutation SNP C C T TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bb1e4188-130c-4206-8671-d7ce3eb8ee74 bdfb06d0-6d6f-4acd-8520-fade65e20d95 g.chr9:82334979C>T uc004ald.2 + 17 2533 c.1684C>T c.(1684-1686)CGT>TGT p.R562C TLE4_uc004alc.2_Missense_Mutation_p.R537C|TLE4_uc010mpr.2_Missense_Mutation_p.R416C|TLE4_uc004ale.2_Missense_Mutation_p.R174C|TLE4_uc011lsq.1_Missense_Mutation_p.R505C|TLE4_uc010mps.2_Missense_Mutation_p.R461C|TLE4_uc004alf.2_Missense_Mutation_p.R476C NM_007005 NP_008936 O60756 BCE1_HUMAN transducin-like enhancer protein 4 Error:Variant_position_missing_in_O60756_after_alignment lung(2)|ovary(1)|breast(1)|skin(1) 5 TAACTACATCCGTTCCTGCAG 0.463 NA 8 42 0 0 0 0 CEP110 11064 broad.mit.edu 37 9 123852644 123852644 + Silent SNP G G C TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bb1e4188-130c-4206-8671-d7ce3eb8ee74 bdfb06d0-6d6f-4acd-8520-fade65e20d95 g.chr9:123852644G>C uc004bkx.1 + 2 340 c.309G>C c.(307-309)CTG>CTC p.L103L CEP110_uc004bkw.2_Silent_p.L103L NM_007018 NP_008949 Q7Z7A1 CNTRL_HUMAN centrosomal protein 110kDa 103 cell division|G2/M transition of mitotic cell cycle centrosome|cytosol protein binding 0 TAAAATCTCTGAACCTTTCAC 0.333 NA 10 98 0 0 0 0 FGD1 2245 broad.mit.edu 37 X 54497839 54497839 + Missense_Mutation SNP G G A TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bb1e4188-130c-4206-8671-d7ce3eb8ee74 bdfb06d0-6d6f-4acd-8520-fade65e20d95 g.chrX:54497839G>A uc004dtg.2 - 2 1123 c.389C>T c.(388-390)CCC>CTC p.P130L FGD1_uc011moi.1_5'Flank NM_004463 NP_004454 P98174 FGD1_HUMAN faciogenital dysplasia protein 130 Pro-rich. actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(3)|skin(2)|central_nervous_system(1) 6 AAGCCGCTGGGGACCTTCTGG 0.607 NA 4 14 0 0 0 0 GPR174 84636 broad.mit.edu 37 X 78426986 78426986 + Missense_Mutation SNP C C A TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bb1e4188-130c-4206-8671-d7ce3eb8ee74 bdfb06d0-6d6f-4acd-8520-fade65e20d95 g.chrX:78426986C>A uc004edg.1 + 1 518 c.482C>A c.(481-483)ACC>AAC p.T161N NM_032553 NP_115942 Q9BXC1 GP174_HUMAN putative purinergic receptor FKSG79 161 Extracellular (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled lung(1)|central_nervous_system(1) 2 AGTGATGATACCTCTGGCAAT 0.478 NA HNSCC(63;0.18) 18 29 9.17e-09 1.9e-08 1 0 PABPC5 140886 broad.mit.edu 37 X 90690579 90690579 + Missense_Mutation SNP G G A TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bb1e4188-130c-4206-8671-d7ce3eb8ee74 bdfb06d0-6d6f-4acd-8520-fade65e20d95 g.chrX:90690579G>A uc004efg.2 + 2 443 c.3G>A c.(1-3)ATG>ATA p.M1I PABPC5_uc004eff.1_Intron NM_080832 NP_543022 Q96DU9 PABP5_HUMAN poly(A) binding protein, cytoplasmic 5 1 cytoplasm nucleotide binding|RNA binding ovary(1)|lung(1)|pancreas(1) 3 TCAGAGAGATGGGGAGCGGGG 0.512 NA 10 6 0 0 0 0 THOC2 57187 broad.mit.edu 37 X 122767908 122767908 + Missense_Mutation SNP T T C TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bb1e4188-130c-4206-8671-d7ce3eb8ee74 bdfb06d0-6d6f-4acd-8520-fade65e20d95 g.chrX:122767908T>C uc004etu.2 - 20 2064 c.2032A>G c.(2032-2034)ATA>GTA p.I678V THOC2_uc011muh.1_Missense_Mutation_p.I603V NM_001081550 NP_001075019 Q8NI27 THOC2_HUMAN THO complex 2 678 intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing THO complex part of transcription export complex protein binding|RNA binding ovary(3) 3 TCTTTCAATATAAGCAGGTCA 0.323 NA 11 49 0 0 0 0 GPC3 2719 broad.mit.edu 37 X 132888182 132888182 + Missense_Mutation SNP C C T rs148021273 byFrequency TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bb1e4188-130c-4206-8671-d7ce3eb8ee74 bdfb06d0-6d6f-4acd-8520-fade65e20d95 g.chrX:132888182C>T uc004exe.1 - 3 549 c.359G>A c.(358-360)CGC>CAC p.R120H GPC3_uc004exd.1_5'UTR|GPC3_uc010nrn.1_Missense_Mutation_p.R120H|GPC3_uc011mvh.1_Missense_Mutation_p.R104H|GPC3_uc010nro.1_Missense_Mutation_p.R66H|GPC3_uc010nrp.1_5'UTR NM_004484 NP_004475 P51654 GPC3_HUMAN glypican 3 isoform 2 precursor 120 extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity lung(2)|prostate(1)|breast(1)|skin(1) 5 Acute lymphoblastic leukemia(192;0.000127) CTTGGCATGGCGAACAACAAT 0.363 NA T|D|Mis|N|F|S Wilms tumour Simpson-Golabi-Behmel_syndrome 7 72 0 0 0 0 PLAC1 10761 broad.mit.edu 37 X 133700419 133700419 + Missense_Mutation SNP T T C TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bb1e4188-130c-4206-8671-d7ce3eb8ee74 bdfb06d0-6d6f-4acd-8520-fade65e20d95 g.chrX:133700419T>C uc004exo.1 - 3 580 c.294A>G c.(292-294)ATA>ATG p.I98M PLAC1_uc004exp.1_Missense_Mutation_p.I98M NM_021796 NP_068568 Q9HBJ0 PLAC1_HUMAN placenta-specific 1 precursor 98 placenta development extracellular region pancreas(1) 1 Acute lymphoblastic leukemia(192;0.000127) AAGAGTAGTGTATCTCAGTGC 0.522 NA 80 22 0 0 0 0 RIPK4 54101 broad.mit.edu 37 21 43161792 43161803 + In_Frame_Del DEL GTGTGCTAGACT GTGTGCTAGACT - rs148559295 TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bb1e4188-130c-4206-8671-d7ce3eb8ee74 bdfb06d0-6d6f-4acd-8520-fade65e20d95 g.chr21:43161792_43161803delGTGTGCTAGACT uc002yzn.1 - 8 1598_1609 c.1550_1561delAGTCTAGCACAC c.(1549-1563)GAGTCTAGCACACGG>GGG p.517_521ESSTR>G NM_020639 NP_065690 P57078 RIPK4_HUMAN ankyrin repeat domain 3 517_521 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1) 7 AACAGCAGCCGTGTGCTAGACTCGTCCCCGTT 0.632 NA 12 27 --- --- --- --- NA NA NA NA PEX2 5828 broad.mit.edu 37 8 77895656 77895657 + Frame_Shift_Ins INS - - A TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq bb1e4188-130c-4206-8671-d7ce3eb8ee74 bdfb06d0-6d6f-4acd-8520-fade65e20d95 g.chr8:77895656_77895657insA uc003yax.2 - 4 1216_1217 c.758_759insT c.(757-759)ATGfs p.M253fs PEX2_uc003yay.2_Frame_Shift_Ins_p.M253fs|PEX2_uc003yaz.2_Frame_Shift_Ins_p.M253fs NM_000318 NP_000309 P28328 PEX2_HUMAN peroxin 2 253 RING-type. peroxisome organization integral to peroxisomal membrane protein binding|zinc ion binding ovary(1) 1 TGGTGTGAGGCATGGTGGGCCA 0.436 NA 51 72 --- --- --- --- NA NA NA NA