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 TXLNA 200081 broad.mit.edu 37 1 32658837 32658837 + Missense_Mutation SNP A A T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr1:32658837A>T uc001bui.2 + 9 1252 c.1187A>T c.(1186-1188)GAG>GTG p.E396V TXLNA_uc001buj.2_Missense_Mutation_p.E396V NM_175852 NP_787048 P40222 TXLNA_HUMAN taxilin 396 Potential. cell proliferation|exocytosis cytoplasm|extracellular region cytokine activity|high molecular weight B cell growth factor receptor binding ovary(2) 2 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) AAGTTTGAGGAGTTCCAGAAC 0.527000 JAK1 3716 broad.mit.edu 37 1 65304184 65304184 + Silent SNP G G C TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr1:65304184G>C uc001dbu.1 - 21 3180 c.2931C>G c.(2929-2931)CTC>CTG p.L977L JAK1_uc009wam.1_Silent_p.L965L|JAK1_uc009wal.1_Silent_p.L154L NM_002227 NP_002218 P23458 JAK1_HUMAN janus kinase 1 977 Protein kinase 2. interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway cytoskeleton|cytosol|endomembrane system|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity p.E966_K989del(1) haematopoietic_and_lymphoid_tissue(34)|prostate(7)|soft_tissue(6)|lung(4)|breast(3)|central_nervous_system(2)|liver(2)|large_intestine(1)|stomach(1)|ovary(1) 61 BRCA - Breast invasive adenocarcinoma(111;0.0485) GCTGCTGTTTGAGGTTTATTT 0.358000 Mis ALL ELTD1 64123 broad.mit.edu 37 1 79387436 79387436 + Missense_Mutation SNP C C G TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr1:79387436C>G uc001diq.3 - 9 1275 c.1119G>C c.(1117-1119)TGG>TGC p.W373C NM_022159 NP_071442 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain 373 GPS.|Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(1)|skin(1) 2 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) GTGAGTAATTCCAAAATGCAC 0.398000 TRIM33 51592 broad.mit.edu 37 1 114968300 114968300 + Missense_Mutation SNP T T A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr1:114968300T>A uc001eew.2 - 9 1550 c.1466A>T c.(1465-1467)AAT>ATT p.N489I TRIM33_uc010owr.1_Intron|TRIM33_uc010ows.1_Missense_Mutation_p.N97I|TRIM33_uc001eex.2_Missense_Mutation_p.N489I NM_015906 NP_056990 Q9UPN9 TRI33_HUMAN tripartite motif-containing 33 protein isoform 489 negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent nucleus co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding lung(4)|central_nervous_system(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1) 11 all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184) all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) AACTACAACATTAGGAGTATA 0.373000 T RET papillary thyroid GABPB2 126626 broad.mit.edu 37 1 151090703 151090703 + Missense_Mutation SNP A A G TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr1:151090703A>G uc001ewr.2 + 9 1649 c.1318A>G c.(1318-1320)AGA>GGA p.R440G GABPB2_uc001ews.2_Missense_Mutation_p.R400G|GABPB2_uc001ewt.2_3'UTR NM_144618 NP_653219 Q8TAK5 GABP2_HUMAN GA repeat binding protein, beta 2 440 positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus protein heterodimerization activity|transcription regulatory region DNA binding 0 all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662) GCCTCACACTAGAGTTTCCAT 0.438000 FLG 2312 broad.mit.edu 37 1 152282658 152282658 + Silent SNP G G A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr1:152282658G>A uc001ezu.1 - 3 4740 c.4704C>T c.(4702-4704)GCC>GCT p.A1568A NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 1568 Ser-rich.|Filaggrin 9. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TAGAGCTGCCGGCCCGAGTGG 0.587000 Ichthyosis CHRNB2 1141 broad.mit.edu 37 1 154544415 154544415 + Silent SNP C C T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr1:154544415C>T uc001ffg.2 + 5 1380 c.1116C>T c.(1114-1116)GGC>GGT p.G372G NM_000748 NP_000739 P17787 ACHB2_HUMAN neuronal nicotinic acetylcholine receptor beta 2 372 Cytoplasmic (Potential). B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity 0 all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) Nicotine(DB00184) AGCGCGAGGGCGCTGGAGCCC 0.716000 FCRL1 115350 broad.mit.edu 37 1 157771760 157771760 + Silent SNP C C T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr1:157771760C>T uc001frg.2 - 5 944 c.831G>A c.(829-831)GAG>GAA p.E277E FCRL1_uc001frf.2_RNA|FCRL1_uc001frh.2_Silent_p.E277E|FCRL1_uc001fri.2_Silent_p.E277E|FCRL1_uc001frj.2_RNA NM_052938 NP_443170 Q96LA6 FCRL1_HUMAN Fc receptor-like 1 isoform 1 precursor 277 Ig-like C2-type 3.|Extracellular (Potential). integral to membrane|plasma membrane receptor activity skin(4)|ovary(3) 7 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) CATTGTTGGCCTCACAGGAGT 0.567000 CD5L 922 broad.mit.edu 37 1 157804383 157804383 + Nonsense_Mutation SNP G G A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr1:157804383G>A uc001frk.3 - 4 675 c.532C>T c.(532-534)CAG>TAG p.Q178* NM_005894 NP_005885 O43866 CD5L_HUMAN CD5 molecule-like precursor 178 SRCR 2. apoptosis|cellular defense response extracellular space|membrane scavenger receptor activity ovary(1) 1 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) CATCCCAGCTGCCGGCACACC 0.592000 KIAA1614 57710 broad.mit.edu 37 1 180905367 180905367 + Missense_Mutation SNP A A T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr1:180905367A>T uc001gok.2 + 5 2389 c.2322A>T c.(2320-2322)GAA>GAT p.E774D KIAA1614_uc001gol.1_Missense_Mutation_p.E395D|KIAA1614_uc001gom.1_Intron NM_020950 NP_066001 Q5VZ46 K1614_HUMAN hypothetical protein LOC57710 774 ovary(3)|skin(1) 4 AGTCCCTGGAAATTGTCTCTC 0.617000 ZNF648 127665 broad.mit.edu 37 1 182026306 182026306 + Silent SNP C C T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr1:182026306C>T uc001goz.2 - 2 1048 c.840G>A c.(838-840)GCG>GCA p.A280A NM_001009992 NP_001009992 Q5T619 ZN648_HUMAN zinc finger protein 648 280 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 ATAGCTCGCACGCGTAGCGCT 0.726000 KCNT2 343450 broad.mit.edu 37 1 196205114 196205114 + Splice_Site SNP A A G TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr1:196205114A>G uc001gtd.1 - 27 3356 c.3296_splice c.e27+1 p.V1099_splice KCNT2_uc009wyt.1_Splice_Site|KCNT2_uc001gte.1_Splice_Site_p.V1032_splice|KCNT2_uc001gtf.1_Splice_Site_p.V1075_splice|KCNT2_uc001gtg.1_Splice_Site NM_198503 NP_940905 Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity ovary(5)|breast(1)|skin(1) 7 AGATCAACTTACACAACATCA 0.299000 PPP2R5A 5525 broad.mit.edu 37 1 212534003 212534003 + Missense_Mutation SNP G G A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr1:212534003G>A uc001hjb.2 + 13 1926 c.1352G>A c.(1351-1353)CGT>CAT p.R451H PPP2R5A_uc010ptd.1_Missense_Mutation_p.R392H NM_006243 NP_006234 Q15172 2A5A_HUMAN protein phosphatase 2, regulatory subunit B 451 R -> E (in Ref. 6; AA sequence). negative regulation of establishment of protein localization in plasma membrane|negative regulation of lipid kinase activity|positive regulation of protein dephosphorylation|signal transduction chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex kinase binding|protein phosphatase type 2A regulator activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155) GAATTGGAACGTGAAGAATTA 0.343000 FAM71A 149647 broad.mit.edu 37 1 212798999 212798999 + Silent SNP C C T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr1:212798999C>T uc001hjk.2 + 1 1184 c.780C>T c.(778-780)CCC>CCT p.P260P uc010pth.1_RNA NM_153606 NP_705834 Q8IYT1 FA71A_HUMAN hypothetical protein LOC149647 260 skin(3)|ovary(1)|central_nervous_system(1) 5 OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094) CATCCATCCCCAAAACATCTA 0.383000 OBSCN 84033 broad.mit.edu 37 1 228509263 228509263 + Silent SNP C C T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr1:228509263C>T uc009xez.1 + 55 14765 c.14721C>T c.(14719-14721)ACC>ACT p.T4907T OBSCN_uc001hsn.2_Silent_p.T4907T NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 4907 Ig-like 48. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) TTGGGGACACCGAGGCACAGG 0.612000 ACTN2 88 broad.mit.edu 37 1 236917358 236917358 + Missense_Mutation SNP C C G TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr1:236917358C>G uc001hyf.2 + 16 2155 c.1951C>G c.(1951-1953)CCC>GCC p.P651A ACTN2_uc001hyg.2_Missense_Mutation_p.P443A|ACTN2_uc009xgi.1_Missense_Mutation_p.P651A|ACTN2_uc010pxu.1_Missense_Mutation_p.P340A|ACTN2_uc001hyh.2_Missense_Mutation_p.P339A NM_001103 NP_001094 P35609 ACTN2_HUMAN actinin, alpha 2 651 Spectrin 4. focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding ovary(4)|skin(1) 5 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) TGCCATTGGGCCCTGGATCCA 0.612000 ENKUR 219670 broad.mit.edu 37 10 25279504 25279504 + Missense_Mutation SNP C C T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr10:25279504C>T uc001isg.1 - 4 647 c.482G>A c.(481-483)CGA>CAA p.R161Q ENKUR_uc001ish.1_Missense_Mutation_p.R99Q NM_145010 NP_659447 Q8TC29 ENKUR_HUMAN enkurin 161 cilium|flagellum calmodulin binding|SH3 domain binding 0 TTCCTCGTTTCGCTTACATAT 0.358000 FRMPD2 143162 broad.mit.edu 37 10 49393656 49393656 + Missense_Mutation SNP C C A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr10:49393656C>A uc001jgi.2 - 18 2406 c.2299G>T c.(2299-2301)GCT>TCT p.A767S FRMPD2_uc001jgh.2_Missense_Mutation_p.A735S|FRMPD2_uc001jgj.2_Missense_Mutation_p.A745S NM_001018071 NP_001018081 Q68DX3 FRPD2_HUMAN FERM and PDZ domain containing 2 isoform 3 767 tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding large_intestine(1) 1 Kidney(211;0.201) CCCGGTTCAGCTATAAAGCTC 0.473000 CSTF2T 23283 broad.mit.edu 37 10 53458048 53458048 + Missense_Mutation SNP C C A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr10:53458048C>A uc001jjp.2 - 1 1308 c.1262G>T c.(1261-1263)CGT>CTT p.R421L PRKG1_uc001jjm.2_Intron|PRKG1_uc001jjn.2_Intron|PRKG1_uc001jjo.2_Intron NM_015235 NP_056050 Q9H0L4 CSTFT_HUMAN cleavage stimulation factor, 3' pre-RNA, subunit 421 9 X 5 AA tandem repeats of M-E-T-R-[AG].|Gly-rich.|1-1. mRNA processing nucleus nucleotide binding|RNA binding ovary(1) 1 COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122) TTCCATGGCACGAGTCTCCAT 0.527000 TET1 80312 broad.mit.edu 37 10 70446291 70446291 + Missense_Mutation SNP G G C TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr10:70446291G>C uc001jok.3 + 11 5736 c.5231G>C c.(5230-5232)AGA>ACA p.R1744T NM_030625 NP_085128 Q8NFU7 TET1_HUMAN CXXC finger 6 1744 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding ovary(5)|lung(2)|prostate(1)|breast(1) 9 CGCAAAAAAAGAACGTGTTTC 0.493000 CDH23 64072 broad.mit.edu 37 10 73538045 73538045 + Missense_Mutation SNP C C T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr10:73538045C>T uc001jrx.3 + 38 5544 c.5167C>T c.(5167-5169)CGC>TGC p.R1723C NM_022124 NP_071407 Q9H251 CAD23_HUMAN cadherin-like 23 isoform 1 precursor 1723 Cadherin 16.|Extracellular (Potential). calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding central_nervous_system(5)|large_intestine(4)|ovary(2) 11 CTTATCCCACCGCCTCACCTC 0.612000 OIT3 170392 broad.mit.edu 37 10 74658610 74658610 + Missense_Mutation SNP G G A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr10:74658610G>A uc001jte.1 + 2 468 c.250G>A c.(250-252)GCA>ACA p.A84T OIT3_uc009xqs.1_RNA NM_152635 NP_689848 Q8WWZ8 OIT3_HUMAN oncoprotein-induced transcript 3 precursor 84 nuclear envelope calcium ion binding ovary(2) 2 Prostate(51;0.0198) TGGAACCCACGCACCTGTCTG 0.567000 PLCE1 51196 broad.mit.edu 37 10 95931103 95931103 + Silent SNP C C T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr10:95931103C>T uc001kjk.2 + 4 2293 c.1659C>T c.(1657-1659)GTC>GTT p.V553V PLCE1_uc010qnx.1_Silent_p.V553V|PLCE1_uc001kjm.2_Silent_p.V245V NM_016341 NP_057425 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 isoform 1 553 Ras-GEF. activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity ovary(2)|skin(1) 3 Colorectal(252;0.0458) TCTTGCCAGTCGACTACCTTT 0.542000 SH3PXD2A 9644 broad.mit.edu 37 10 105526894 105526894 + Missense_Mutation SNP C C A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr10:105526894C>A uc001kxj.1 - 3 327 c.187G>T c.(187-189)GGC>TGC p.G63C NM_014631 NP_055446 Q5TCZ1 SPD2A_HUMAN SH3 multiple domains 1 63 PX. cell communication|superoxide metabolic process cell junction|cell projection|cytoplasm|podosome phosphatidylinositol binding|protein binding 0 Colorectal(252;0.0815)|Breast(234;0.131) Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119) TCCTTCTGGCCACCTTCAATG 0.547000 HSPA12A 259217 broad.mit.edu 37 10 118458177 118458177 + Missense_Mutation SNP G G A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr10:118458177G>A uc001lct.2 - 5 620 c.515C>T c.(514-516)GCC>GTC p.A172V HSPA12A_uc001lcu.2_Missense_Mutation_p.A89V NM_025015 NP_079291 O43301 HS12A_HUMAN heat shock 70kDa protein 12A 172 ATP binding ovary(1) 1 all cancers(201;0.0158) GTACTGCAGGGCATAAGCAAA 0.537000 MUC2 4583 broad.mit.edu 37 11 1087573 1087573 + Silent SNP C C T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr11:1087573C>T uc001lsx.1 + 24 3351 c.3324C>T c.(3322-3324)TGC>TGT p.C1108C NM_002457 NP_002448 Q02817 MUC2_HUMAN mucin 2 precursor 1108 inner mucus layer|outer mucus layer protein binding lung(1)|breast(1) 2 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) AGGGGGCCTGCGTGTTCTGGA 0.667000 SERGEF 26297 broad.mit.edu 37 11 18010292 18010292 + Missense_Mutation SNP C C A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr11:18010292C>A uc001mnm.2 - 8 776 c.696G>T c.(694-696)GAG>GAT p.E232D SERGEF_uc009yhd.2_RNA|SERGEF_uc001mnn.2_Missense_Mutation_p.E232D|SERGEF_uc010rcz.1_Missense_Mutation_p.E118D|SERGEF_uc001mno.1_Missense_Mutation_p.E118D NM_012139 NP_036271 Q9UGK8 SRGEF_HUMAN deafness locus associated putative guanine 232 RCC1 5. negative regulation of protein secretion|signal transduction cytoplasm|nucleus protein binding|Ran guanyl-nucleotide exchange factor activity central_nervous_system(1) 1 AAACATACACCTCTCCTGCAT 0.403000 AMBRA1 55626 broad.mit.edu 37 11 46430169 46430169 + Silent SNP C C T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr11:46430169C>T uc010rgu.1 - 17 3657 c.3297G>A c.(3295-3297)GTG>GTA p.V1099V AMBRA1_uc010rgt.1_Intron|AMBRA1_uc009ylc.1_Silent_p.V1070V|AMBRA1_uc001ncu.1_Silent_p.V1009V|AMBRA1_uc001ncv.2_Silent_p.V1102V|AMBRA1_uc001ncw.2_Silent_p.V980V|AMBRA1_uc001ncx.2_Silent_p.V1039V NM_017749 NP_060219 Q9C0C7 AMRA1_HUMAN activating molecule in beclin-1-regulated 1099 autophagy|cell differentiation|nervous system development autophagic vacuole|cytoplasmic vesicle large_intestine(1)|ovary(1)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182) CCTGAGATGTCACTGAGGTGG 0.602000 OR1S1 219959 broad.mit.edu 37 11 57982414 57982414 + Silent SNP G G A rs111386724 byFrequency TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr11:57982414G>A uc010rkc.1 + 1 198 c.198G>A c.(196-198)ACG>ACA p.T66T NM_001004458 NP_001004458 Q8NH92 OR1S1_HUMAN olfactory receptor, family 1, subfamily S, 66 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1) 1 Breast(21;0.0589) GCTTGGATACGTACCTTCATA 0.443000 CNTF 1270 broad.mit.edu 37 11 58391931 58391931 + Missense_Mutation SNP C C A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr11:58391931C>A uc001nna.3 + 2 619 c.539C>A c.(538-540)TCT>TAT p.S180Y ZFP91-CNTF_uc010rkm.1_RNA NM_000614 NP_000605 P26441 CNTF_HUMAN ciliary neurotrophic factor 180 ciliary neurotrophic factor-mediated signaling pathway|growth|negative regulation of neuron apoptosis|positive regulation of tyrosine phosphorylation of Stat3 protein ciliary neurotrophic factor receptor binding|growth factor activity|interleukin-6 receptor binding ovary(1) 1 Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24) CGTTTCATTTCTTCTCATCAG 0.473000 MYO7A 4647 broad.mit.edu 37 11 76905526 76905526 + Missense_Mutation SNP C C T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr11:76905526C>T uc001oyb.2 + 32 4552 c.4280C>T c.(4279-4281)ACG>ATG p.T1427M MYO7A_uc010rsm.1_Missense_Mutation_p.T1416M|MYO7A_uc001oyc.2_Missense_Mutation_p.T1427M|MYO7A_uc009yus.1_RNA|MYO7A_uc009yut.1_Missense_Mutation_p.T638M NM_000260 NP_000251 Q13402 MYO7A_HUMAN myosin VIIA isoform 1 1427 FERM 1. actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(3)|breast(1) 4 CCCCTGAAGACGCTGGAGAAG 0.592000 GRM5 2915 broad.mit.edu 37 11 88300299 88300299 + Missense_Mutation SNP T T G TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr11:88300299T>G uc001pcq.2 - 7 2752 c.2552A>C c.(2551-2553)AAG>ACG p.K851T GRM5_uc009yvm.2_Missense_Mutation_p.K851T NM_001143831 NP_001137303 P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 isoform a 851 Cytoplasmic (Potential). activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity central_nervous_system(4)|ovary(2)|lung(2)|breast(1) 9 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) GGAGGATGACTTGCCATCCCC 0.552000 B4GALNT3 283358 broad.mit.edu 37 12 666773 666773 + Splice_Site SNP G G C TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr12:666773G>C uc001qii.1 + 16 2381 c.2381_splice c.e16-1 p.V794_splice B4GALNT3_uc001qik.1_Splice_Site_p.V343_splice NM_173593 NP_775864 Q6L9W6 B4GN3_HUMAN beta Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity ovary(1)|skin(1) 2 all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215) OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262) CCCTGGGGTAGTGAAGAACCA 0.552000 OLR1 4973 broad.mit.edu 37 12 10312524 10312524 + Silent SNP A A G TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr12:10312524A>G uc001qxo.1 - 6 891 c.777T>C c.(775-777)GCT>GCC p.A259A OLR1_uc010sgz.1_3'UTR|OLR1_uc010sha.1_3'UTR NM_002543 NP_002534 P78380 OLR1_HUMAN oxidized low density lipoprotein (lectin-like) 259 Extracellular (Potential).|C-type lectin. blood circulation|blood coagulation|inflammatory response|leukocyte migration|proteolysis extracellular region|integral to plasma membrane|membrane fraction sugar binding ovary(1) 1 TACTGAAGGCAGCTAAAATGC 0.418000 ABCC9 10060 broad.mit.edu 37 12 21997801 21997801 + Missense_Mutation SNP G G T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr12:21997801G>T uc001rfi.1 - 25 3165 c.3145C>A c.(3145-3147)CTT>ATT p.L1049I ABCC9_uc001rfh.2_Missense_Mutation_p.L1049I|ABCC9_uc001rfj.1_Missense_Mutation_p.L1013I NM_005691 NP_005682 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C, member 9 1049 Helical; Name=13; (Potential).|ABC transmembrane type-1 2. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity ovary(4)|skin(2) 6 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) ACAAGGCAAAGGAAAATGCCT 0.413000 ANO6 196527 broad.mit.edu 37 12 45797015 45797015 + Missense_Mutation SNP A A C TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr12:45797015A>C uc001roo.2 + 14 2108 c.1773A>C c.(1771-1773)AGA>AGC p.R591S ANO6_uc010sld.1_Missense_Mutation_p.R591S|ANO6_uc010sle.1_Missense_Mutation_p.R591S|ANO6_uc010slf.1_Missense_Mutation_p.R612S|ANO6_uc010slg.1_Missense_Mutation_p.R573S NM_001025356 NP_001020527 Q4KMQ2 ANO6_HUMAN anoctamin 6 isoform a 591 Extracellular (Potential). activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet chloride channel complex|plasma membrane chloride channel activity ovary(1)|kidney(1) 2 GAAAATACAGAAATGAAGAGG 0.338000 BIN2 51411 broad.mit.edu 37 12 51717838 51717838 + Missense_Mutation SNP C C T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr12:51717838C>T uc001ryg.2 - 1 101 c.49G>A c.(49-51)GTG>ATG p.V17M BIN2_uc009zlz.2_Missense_Mutation_p.V17M|BIN2_uc001ryh.2_Translation_Start_Site|BIN2_uc010sng.1_Intron NM_016293 NP_057377 Q9UBW5 BIN2_HUMAN bridging integrator 2 17 cytoplasm protein binding ovary(1) 1 TTCTTCTGCACCTGCTTGGCG 0.721000 IKZF4 64375 broad.mit.edu 37 12 56420729 56420729 + Missense_Mutation SNP G G A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr12:56420729G>A uc001sjb.1 + 5 610 c.451G>A c.(451-453)GGC>AGC p.G151S IKZF4_uc010sqa.1_Missense_Mutation_p.G104S|IKZF4_uc001sjc.1_Missense_Mutation_p.G151S|IKZF4_uc001sjd.1_Missense_Mutation_p.G49S|IKZF4_uc009zoi.1_Missense_Mutation_p.G106S|IKZF4_uc001sje.1_Missense_Mutation_p.G110S NM_022465 NP_071910 Q9H2S9 IKZF4_HUMAN zinc finger protein, subfamily 1A, 4 151 negative regulation of transcription, DNA-dependent nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123) CTCCCCTGGGGGCATCCGGCT 0.587000 RPH3A 22895 broad.mit.edu 37 12 113316957 113316957 + Missense_Mutation SNP A A G TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr12:113316957A>G uc010syl.1 + 14 1567 c.1205A>G c.(1204-1206)TAC>TGC p.Y402C RPH3A_uc001ttz.2_Missense_Mutation_p.Y402C|RPH3A_uc001tty.2_Missense_Mutation_p.Y398C|RPH3A_uc009zwe.1_Missense_Mutation_p.Y398C|RPH3A_uc010sym.1_Missense_Mutation_p.Y353C|RPH3A_uc001tua.2_Missense_Mutation_p.Y162C NM_001143854 NP_001137326 Q9Y2J0 RP3A_HUMAN rabphilin 3A homolog isoform 1 402 C2 1. intracellular protein transport cell junction|synaptic vesicle Rab GTPase binding|transporter activity|zinc ion binding ovary(3)|central_nervous_system(2)|skin(2) 7 BRCA - Breast invasive adenocarcinoma(302;0.00453) AGCCTTCTCTACGACCAGGAC 0.483000 TPTE2 93492 broad.mit.edu 37 13 20041401 20041401 + Missense_Mutation SNP A A C TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr13:20041401A>C uc001umd.2 - 8 687 c.476T>G c.(475-477)ATT>AGT p.I159S TPTE2_uc009zzk.2_Intron|TPTE2_uc009zzl.2_Intron|TPTE2_uc001ume.2_Intron|TPTE2_uc009zzm.2_Intron|TPTE2_uc010tcm.1_RNA NM_199254 NP_954863 Q6XPS3 TPTE2_HUMAN TPTE and PTEN homologous inositol lipid 159 Helical; (Potential). endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity 0 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) GTCAAAAAAAATGTAAATGAC 0.299000 SLITRK6 84189 broad.mit.edu 37 13 86369127 86369127 + Missense_Mutation SNP A A C TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr13:86369127A>C uc001vll.1 - 2 1976 c.1517T>G c.(1516-1518)CTT>CGT p.L506R SLITRK6_uc010afe.1_Intron NM_032229 NP_115605 Q9H5Y7 SLIK6_HUMAN slit and trk like 6 precursor 506 Extracellular (Potential). integral to membrane large_intestine(1)|ovary(1)|central_nervous_system(1) 3 all_neural(89;0.117)|Medulloblastoma(90;0.163) GBM - Glioblastoma multiforme(99;0.0456) TAGCAAATCAAGATCATCCAA 0.403000 COL4A1 1282 broad.mit.edu 37 13 110831620 110831620 + Missense_Mutation SNP C C A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr13:110831620C>A uc001vqw.3 - 30 2464 c.2342G>T c.(2341-2343)AGA>ATA p.R781I COL4A1_uc010agl.2_Intron NM_001845 NP_001836 P02462 CO4A1_HUMAN alpha 1 type IV collagen preproprotein 781 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1) 6 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) GAAGTTACCTCTGATCCCCTG 0.363000 RNF31 55072 broad.mit.edu 37 14 24624667 24624667 + Missense_Mutation SNP G G C TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr14:24624667G>C uc001wmn.1 + 13 2598 c.2349G>C c.(2347-2349)AAG>AAC p.K783N RNF31_uc001wml.1_Missense_Mutation_p.K632N|RNF31_uc001wmm.1_RNA|RNF31_uc010alg.1_Missense_Mutation_p.K542N|RNF31_uc001wmo.1_Missense_Mutation_p.K250N|RNF31_uc001wmp.2_RNA|RNF31_uc010alh.1_5'Flank NM_017999 NP_060469 Q96EP0 RNF31_HUMAN ring finger protein 31 783 IBR-type 1. CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway CD40 receptor complex|internal side of plasma membrane|LUBAC complex ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding large_intestine(1)|ovary(1) 2 GBM - Glioblastoma multiforme(265;0.00861) TGTTCCATAAGAAGCTGACCG 0.612000 DACT1 51339 broad.mit.edu 37 14 59112668 59112668 + Missense_Mutation SNP G G A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr14:59112668G>A uc001xdw.2 + 4 1491 c.1327G>A c.(1327-1329)GCT>ACT p.A443T DACT1_uc010trv.1_Missense_Mutation_p.A162T|DACT1_uc001xdx.2_Missense_Mutation_p.A406T|DACT1_uc010trw.1_Missense_Mutation_p.A162T NM_016651 NP_057735 Q9NYF0 DACT1_HUMAN dapper 1 isoform 1 443 multicellular organismal development|Wnt receptor signaling pathway cytoplasm|nucleus large_intestine(2)|lung(2)|ovary(1) 5 CCCCTCAGGCGCTGCCTCCGA 0.597000 FNTB 2342 broad.mit.edu 37 14 65507581 65507581 + Silent SNP C C T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr14:65507581C>T uc001xia.2 + 8 931 c.766C>T c.(766-768)CTG>TTG p.L256L FNTB_uc010tsl.1_Silent_p.L290L|FNTB_uc010tsm.1_Silent_p.L210L|MAX_uc001xic.1_Intron|FNTB_uc001xid.2_Silent_p.L12L|FNTB_uc010tso.1_Silent_p.L171L NM_002028 NP_002019 P49356 FNTB_HUMAN farnesyltransferase, CAAX box, beta 256 PFTB 3. protein farnesylation microtubule associated complex protein binding|protein farnesyltransferase activity ovary(1) 1 all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011) CTTCTGTGGCCTGGCCGCGCT 0.517000 DYNC1H1 1778 broad.mit.edu 37 14 102478443 102478443 + Missense_Mutation SNP C C A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr14:102478443C>A uc001yks.2 + 33 7014 c.6850C>A c.(6850-6852)CTG>ATG p.L2284M DYNC1H1_uc001ykt.1_5'Flank NM_001376 NP_001367 Q14204 DYHC1_HUMAN cytoplasmic dynein 1 heavy chain 1 2284 AAA 2 (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding ovary(7)|central_nervous_system(2)|pancreas(1) 10 CACACACGTGCTGAGAAAGTA 0.498000 TRPM1 4308 broad.mit.edu 37 15 31318418 31318418 + Missense_Mutation SNP C C T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr15:31318418C>T uc001zfm.2 - 26 3615 c.3487G>A c.(3487-3489)GTG>ATG p.V1163M TRPM1_uc010azy.2_Missense_Mutation_p.V1070M|TRPM1_uc001zfl.2_RNA NM_002420 NP_002411 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, 1163 Cytoplasmic (Potential). cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity ovary(2)|pancreas(1)|skin(1) 4 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) TGCTCCTGCACGCACTGCTCC 0.577000 MEIS2 4212 broad.mit.edu 37 15 37390190 37390190 + Missense_Mutation SNP G G A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr15:37390190G>A uc001zjr.2 - 2 1260 c.223C>T c.(223-225)CGG>TGG p.R75W MEIS2_uc001zjl.2_Missense_Mutation_p.R62W|MEIS2_uc010ucj.1_Missense_Mutation_p.R62W|MEIS2_uc001zjm.2_5'UTR|MEIS2_uc001zjn.2_5'UTR|MEIS2_uc001zjo.2_Missense_Mutation_p.R75W|MEIS2_uc001zjp.2_Missense_Mutation_p.R75W|MEIS2_uc001zjs.2_Missense_Mutation_p.R75W|MEIS2_uc001zju.2_Missense_Mutation_p.R62W|MEIS2_uc001zjt.2_Missense_Mutation_p.R75W NM_170675 NP_733775 O14770 MEIS2_HUMAN Meis homeobox 2 isoform c 75 negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity ovary(2) 2 all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155) all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288) TCCTTGTCCCGCTTCAAGGCG 0.632000 TTBK2 146057 broad.mit.edu 37 15 43038032 43038032 + Silent SNP G G A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr15:43038032G>A uc001zqo.2 - 15 4135 c.3696C>T c.(3694-3696)CCC>CCT p.P1232P TTBK2_uc010bcy.2_Silent_p.P1163P|uc001zqn.2_5'Flank NM_173500 NP_775771 Q6IQ55 TTBK2_HUMAN tau tubulin kinase 2 1232 cell death ATP binding|protein serine/threonine kinase activity ovary(2)|lung(2)|stomach(1)|pancreas(1)|skin(1) 7 all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;3.23e-07) TCTTCCCTTGGGGGGTTTTAG 0.542000 FBN1 2200 broad.mit.edu 37 15 48712976 48712976 + Missense_Mutation SNP C C T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr15:48712976C>T uc001zwx.1 - 63 8055 c.7727G>A c.(7726-7728)CGC>CAC p.R2576H FBN1_uc010beo.1_RNA NM_000138 NP_000129 P35555 FBN1_HUMAN fibrillin 1 precursor 2576 EGF-like 45; calcium-binding. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding ovary(2)|large_intestine(1) 3 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) ATGCTGGCAGCGGTGGTTACC 0.532000 FBN1 2200 broad.mit.edu 37 15 48738931 48738931 + Missense_Mutation SNP G G T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr15:48738931G>T uc001zwx.1 - 47 6088 c.5760C>A c.(5758-5760)TTC>TTA p.F1920L FBN1_uc010beo.1_RNA NM_000138 NP_000129 P35555 FBN1_HUMAN fibrillin 1 precursor 1920 EGF-like 32; calcium-binding. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding ovary(2)|large_intestine(1) 3 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) GAGAAAGGATGAAACCATGAT 0.408000 ACAN 176 broad.mit.edu 37 15 89384998 89384998 + Silent SNP C C A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr15:89384998C>A uc010upo.1 + 5 1031 c.657C>A c.(655-657)GGC>GGA p.G219G ACAN_uc002bmx.2_Silent_p.G219G|ACAN_uc010upp.1_Silent_p.G219G|ACAN_uc002bna.2_RNA NM_013227 NP_037359 E7EX88 E7EX88_HUMAN aggrecan isoform 2 precursor 219 cell adhesion hyaluronic acid binding|sugar binding ovary(2)|central_nervous_system(1) 3 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) CCCGGGAAGGCTGCTATGGAG 0.562000 PKD1 5310 broad.mit.edu 37 16 2161261 2161261 + Missense_Mutation SNP C C T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr16:2161261C>T uc002cos.1 - 15 4116 c.3907G>A c.(3907-3909)GCC>ACC p.A1303T PKD1_uc002cot.1_Missense_Mutation_p.A1303T NM_001009944 NP_001009944 P98161 PKD1_HUMAN polycystin 1 isoform 1 precursor 1303 PKD 8.|Extracellular (Potential). calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding central_nervous_system(2)|skin(1) 3 GGGATGCAGGCGGCGGGTTCA 0.706000 DCI 1632 broad.mit.edu 37 16 2296861 2296861 + Missense_Mutation SNP G G C rs148482178 byFrequency TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr16:2296861G>C uc002cpr.2 - 3 329 c.293C>G c.(292-294)TCG>TGG p.S98W DCI_uc002cps.2_Missense_Mutation_p.S98W NM_001919 NP_001910 P42126 ECI1_HUMAN dodecenoyl-Coenzyme A delta isomerase precursor 98 fatty acid beta-oxidation mitochondrial matrix dodecenoyl-CoA delta-isomerase activity 0 AGCACCTACCGAGGTCAGAAT 0.587000 CREBBP 1387 broad.mit.edu 37 16 3786799 3786799 + Missense_Mutation SNP A A T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr16:3786799A>T uc002cvv.2 - 27 4616 c.4412T>A c.(4411-4413)ATC>AAC p.I1471N CREBBP_uc002cvw.2_Missense_Mutation_p.I1433N NM_004380 NP_004371 Q92793 CBP_HUMAN CREB binding protein isoform a 1471 Cys/His-rich.|Interaction with TRERF1. cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1) 127 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) ACAGGCCCAGATGTGCCCTGT 0.512000 T|N|F|Mis|O MLL|MORF|RUNXBP2 ALL|AML|DLBCL|B-NHL Rubinstein-Taybi syndrome Rubinstein-Taybi_syndrome CIITA 4261 broad.mit.edu 37 16 11001447 11001447 + Missense_Mutation SNP C C T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr16:11001447C>T uc002dai.3 + 11 2231 c.2098C>T c.(2098-2100)CGG>TGG p.R700W CIITA_uc002daj.3_Missense_Mutation_p.R701W|CIITA_uc002dak.3_Intron|CIITA_uc002dag.2_Missense_Mutation_p.R700W|CIITA_uc002dah.2_Missense_Mutation_p.R652W|CIITA_uc010bup.1_Intron NM_000246 NP_000237 P33076 C2TA_HUMAN class II transactivator 700 NACHT. interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent nucleus activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding central_nervous_system(1) 1 ACACCCACCGCGGGCCGCAGA 0.627000 T FLJ27352|CD274|CD273|RALGDS|RUNDC2A|C16orf75 PMBL|Hodgkin Lymphona| DNAH3 55567 broad.mit.edu 37 16 20976432 20976433 + Missense_Mutation DNP TT TT AG TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr16:20976432_20976433TT>AG uc010vbe.1 - 53 8773_8774 c.8773_8774AA>CT c.(8773-8775)AAA>CTA p.K2925L DNAH3_uc010vbd.1_Missense_Mutation_p.K360L NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 2925 Stalk (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 18 GBM - Glioblastoma multiforme(48;0.207) CTCTGCTCTTTTCTGGTTCAGC 0.545000 KIF22 3835 broad.mit.edu 37 16 29809747 29809747 + Missense_Mutation SNP T T C TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr16:29809747T>C uc002dts.3 + 3 343 c.319T>C c.(319-321)TCA>CCA p.S107P uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|KIF22_uc010vdv.1_Missense_Mutation_p.S39P|KIF22_uc010vdw.1_Missense_Mutation_p.S39P|KIF22_uc010bzf.2_Missense_Mutation_p.S39P NM_007317 NP_015556 Q14807 KIF22_HUMAN kinesin family member 22 107 Kinesin-motor. blood coagulation|DNA repair|microtubule-based movement|mitosis cytosol|kinetochore|microtubule|nucleus ATP binding|DNA binding|microtubule motor activity|protein binding 0 CTATGCAGGTTCAGTGCAGCC 0.463000 DOC2A 8448 broad.mit.edu 37 16 30018255 30018255 + Missense_Mutation SNP C C A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr16:30018255C>A uc002dvm.2 - 8 829 c.729G>T c.(727-729)GAG>GAT p.E243D uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|DOC2A_uc002dvl.2_Missense_Mutation_p.E241D|DOC2A_uc002dvn.2_Missense_Mutation_p.E243D|DOC2A_uc010vef.1_RNA|DOC2A_uc002dvo.2_Missense_Mutation_p.E243D|DOC2A_uc002dvp.2_Missense_Mutation_p.E243D|DOC2A_uc002dvq.2_Missense_Mutation_p.E243D NM_003586 NP_003577 Q14183 DOC2A_HUMAN double C2-like domains, alpha 243 Interaction with UNC13D. nervous system development|regulation of calcium ion-dependent exocytosis cell junction|lysosome|synaptic vesicle membrane|synaptosome calcium-dependent phospholipid binding|protein binding|transporter activity ovary(2) 2 CCTGCCCCTGCTCCGCCTGCT 0.697000 THAP11 57215 broad.mit.edu 37 16 67876787 67876787 + Silent SNP G G A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr16:67876787G>A uc002euo.2 + 1 575 c.330G>A c.(328-330)CAG>CAA p.Q110Q CENPT_uc002eun.3_Intron NM_020457 NP_065190 Q96EK4 THA11_HUMAN THAP domain containing 11 110 Gln-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|identical protein binding|metal ion binding 0 Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118) aacagcagcagcagcagcaac 0.303000 THAP11 57215 broad.mit.edu 37 16 67876796 67876796 + Silent SNP A A G TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr16:67876796A>G uc002euo.2 + 1 584 c.339A>G c.(337-339)CAA>CAG p.Q113Q CENPT_uc002eun.3_Intron NM_020457 NP_065190 Q96EK4 THA11_HUMAN THAP domain containing 11 113 Gln-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|identical protein binding|metal ion binding 0 Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118) agcagcagcaacagcagcaac 0.308000 CRISPLD2 83716 broad.mit.edu 37 16 84940234 84940234 + Missense_Mutation SNP G G T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr16:84940234G>T uc010voh.1 + 15 1707 c.1480G>T c.(1480-1482)GCT>TCT p.A494S CRISPLD2_uc010vog.1_Intron|CRISPLD2_uc002fio.2_Missense_Mutation_p.A493S NM_031476 NP_113664 Q9H0B8 CRLD2_HUMAN cysteine-rich secretory protein LCCL domain 494 extracellular region|transport vesicle 0 CCGGATCTTTGCTGTCAGGCA 0.527000 TP53 7157 broad.mit.edu 37 17 7578500 7578500 + Nonsense_Mutation SNP G G A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr17:7578500G>A uc002gim.2 - 5 624 c.430C>T c.(430-432)CAG>TAG p.Q144* TP53_uc002gig.1_Nonsense_Mutation_p.Q144*|TP53_uc002gih.2_Nonsense_Mutation_p.Q144*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.Q12*|TP53_uc010cng.1_Nonsense_Mutation_p.Q12*|TP53_uc002gii.1_Nonsense_Mutation_p.Q12*|TP53_uc010cnh.1_Nonsense_Mutation_p.Q144*|TP53_uc010cni.1_Nonsense_Mutation_p.Q144*|TP53_uc002gij.2_Nonsense_Mutation_p.Q144*|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Nonsense_Mutation_p.Q51*|TP53_uc002gio.2_Nonsense_Mutation_p.Q12*|TP53_uc010vug.1_Nonsense_Mutation_p.Q105* NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 144 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). Q -> P (in sporadic cancers; somatic mutation).|Q -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).|Q -> H (in sporadic cancers; somatic mutation).|Q -> K (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.Q144*(29)|p.Q144L(8)|p.0?(7)|p.Q144H(4)|p.Q144P(4)|p.Q144R(4)|p.Q144fs*26(3)|p.Q144K(2)|p.Q144del(2)|p.Q144Q(2)|p.Q144_G154del11(1)|p.L137_W146del10(1)|p.Q144fs*32(1)|p.Q144fs*16(1)|p.P142_Q144delPVQ(1)|p.Q144fs*4(1)|p.V143_S149del(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) ACCCACAGCTGCACAGGGCAG 0.597000 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) DNAH2 146754 broad.mit.edu 37 17 7674764 7674764 + Silent SNP T T G TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr17:7674764T>G uc002giu.1 + 27 4493 c.4479T>G c.(4477-4479)GCT>GCG p.A1493A NM_020877 NP_065928 Q9P225 DYH2_HUMAN dynein heavy chain domain 3 1493 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(6)|skin(6)|central_nervous_system(1) 13 all_cancers(10;4.66e-07)|Prostate(122;0.081) ACAACAATGCTCTCCGGAGCA 0.537000 RAB11FIP4 84440 broad.mit.edu 37 17 29848243 29848243 + Missense_Mutation SNP C C T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr17:29848243C>T uc002hgn.1 + 5 852 c.623C>T c.(622-624)TCG>TTG p.S208L RAB11FIP4_uc002hgo.2_Missense_Mutation_p.S106L NM_032932 NP_116321 Q86YS3 RFIP4_HUMAN RAB11 family interacting protein 4 (class II) 208 Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization. cytokinesis|interspecies interaction between organisms|protein transport cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding skin(1) 1 all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066) TCCACCACCTCGCTCATCAGC 0.582000 KRT24 192666 broad.mit.edu 37 17 38854498 38854498 + Missense_Mutation SNP T T G TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr17:38854498T>G uc002hvd.2 - 8 1626 c.1569A>C c.(1567-1569)AAA>AAC p.K523N NM_019016 NP_061889 Q2M2I5 K1C24_HUMAN keratin 24 523 Tail. cytoplasm|intermediate filament structural molecule activity 0 Breast(137;0.00526) CTTATTTAACTTTCACCTCAG 0.388000 KLHL10 317719 broad.mit.edu 37 17 40001552 40001552 + Missense_Mutation SNP C C T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr17:40001552C>T uc010cxr.2 + 3 1001 c.859C>T c.(859-861)CGC>TGC p.R287C KLHL10_uc010wfv.1_Missense_Mutation_p.R281C|KLHL10_uc010wfw.1_Missense_Mutation_p.R199C NM_152467 NP_689680 Q6JEL2 KLH10_HUMAN kelch-like 10 287 cytoplasm ovary(1)|lung(1)|breast(1)|central_nervous_system(1) 4 Breast(137;0.000162) CACCAGACCACGCTTGCCCTA 0.512000 ITGA3 3675 broad.mit.edu 37 17 48156529 48156529 + Silent SNP G G A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr17:48156529G>A uc010dbl.2 + 20 2954 c.2490G>A c.(2488-2490)CTG>CTA p.L830L ITGA3_uc010dbm.2_Silent_p.L830L NM_002204 NP_002195 P26006 ITA3_HUMAN integrin alpha 3 isoform a precursor 830 Extracellular (Potential). blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration cell surface|integrin complex protein binding|receptor activity ovary(2)|pancreas(1) 3 GCAAGTGGCTGCTGTATCCCA 0.612000 TSPAN10 83882 broad.mit.edu 37 17 79612272 79612272 + Silent SNP C C T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr17:79612272C>T uc010die.2 + 2 381 c.291C>T c.(289-291)ATC>ATT p.I97I TSPAN10_uc002kaw.1_Silent_p.I97I|TSPAN10_uc010did.1_RNA NM_031945 NP_114151 Q9H1Z9 TSN10_HUMAN tetraspanin 10 97 Helical; (Potential). integral to membrane ovary(1) 1 all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739) CCCTGGCCATCGGGCTCTGGG 0.677000 TBCD 6904 broad.mit.edu 37 17 80726295 80726295 + Splice_Site SNP G G A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr17:80726295G>A uc002kfz.2 + 5 566 c.436_splice c.e5-1 p.A146_splice TBCD_uc002kfx.1_Splice_Site_p.A129_splice|TBCD_uc002kfy.1_Splice_Site_p.A146_splice NM_005993 NP_005984 Q9BTW9 TBCD_HUMAN beta-tubulin cofactor D 'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction beta-tubulin binding|chaperone binding|GTPase activator activity 0 Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0266)|all_epithelial(8;0.0696) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18) TAATTTTTTAGGCTTGGGAAA 0.517000 DSG3 1830 broad.mit.edu 37 18 29044178 29044178 + Silent SNP C C T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr18:29044178C>T uc002kws.2 + 9 1213 c.1104C>T c.(1102-1104)ACC>ACT p.T368T NM_001944 NP_001935 P32926 DSG3_HUMAN desmoglein 3 preproprotein 368 Cadherin 3.|Extracellular (Potential). cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding skin(4)|ovary(3)|lung(1)|central_nervous_system(1) 9 OV - Ovarian serous cystadenocarcinoma(10;0.00504) TTCAGTCAACCCCAGTCACAA 0.373000 PQLC1 80148 broad.mit.edu 37 18 77679319 77679319 + Missense_Mutation SNP C C A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr18:77679319C>A uc002lnl.2 - 5 645 c.473G>T c.(472-474)GGC>GTC p.G158V PQLC1_uc010dre.2_Missense_Mutation_p.G75V|PQLC1_uc002lnk.2_Missense_Mutation_p.G140V|PQLC1_uc010xfm.1_Intron NM_025078 NP_079354 Q8N2U9 PQLC1_HUMAN PQ loop repeat containing 1 isoform 1 158 Helical; (Potential). integral to membrane large_intestine(1)|ovary(1) 2 Esophageal squamous(42;0.0212)|Melanoma(33;0.2) OV - Ovarian serous cystadenocarcinoma(15;8.2e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0258) GGTGATGTAGCCCGCCACGCC 0.622000 KANK2 25959 broad.mit.edu 37 19 11289026 11289026 + Silent SNP G G A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr19:11289026G>A uc010dxv.2 - 8 2073 c.1515C>T c.(1513-1515)AAC>AAT p.N505N KANK2_uc002mqm.2_Silent_p.N513N|KANK2_uc002mqo.3_Silent_p.N505N|KANK2_uc002mqp.1_Silent_p.N314N NM_015493 NP_056308 Q63ZY3 KANK2_HUMAN ankyrin repeat domain 25 isoform 1 505 0 CTCACCCGCCGTTGACCCCCA 0.637000 ZNF433 163059 broad.mit.edu 37 19 12128997 12128997 + Missense_Mutation SNP C C G TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr19:12128997C>G uc002msy.1 - 2 294 c.123G>C c.(121-123)AGG>AGC p.R41S uc002msx.1_Intron|ZNF433_uc002msz.1_Missense_Mutation_p.R6S NM_001080411 NP_001073880 Q8N7K0 ZN433_HUMAN zinc finger protein 433 41 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 AGGCCAGGTTCCTGAAGGTTT 0.418000 CEBPG 1054 broad.mit.edu 37 19 33870080 33870080 + Translation_Start_Site SNP G G A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr19:33870080G>A uc002nup.2 + 2 224 c.-65G>A c.(-67--63)GCGTG>GCATG NM_001806 NP_001797 P53567 CEBPG_HUMAN CCAAT/enhancer binding protein gamma B cell differentiation|enucleate erythrocyte differentiation|liver development|natural killer cell mediated cytotoxicity|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of DNA binding|positive regulation of DNA repair|positive regulation of interferon-gamma biosynthetic process|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter nucleus protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding 0 Esophageal squamous(110;0.137) GCAGCTTAGCGTGGAAACCAT 0.398000 ZNF420 147923 broad.mit.edu 37 19 37619853 37619853 + Missense_Mutation SNP C C A rs150682748 by1000genomes TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr19:37619853C>A uc002ofl.2 + 5 2175 c.1960C>A c.(1960-1962)CGT>AGT p.R654S NM_144689 NP_653290 Q8TAQ5 ZN420_HUMAN zinc finger protein 420 654 C2H2-type 19. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GGCCTTTACTCGTGGTTCACA 0.388000 ACTN4 81 broad.mit.edu 37 19 39218653 39218653 + Missense_Mutation SNP A A C TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr19:39218653A>C uc002oja.1 + 19 2464 c.2405A>C c.(2404-2406)GAG>GCG p.E802A ACTN4_uc002ojb.1_Missense_Mutation_p.E124A NM_004924 NP_004915 O43707 ACTN4_HUMAN actinin, alpha 4 802 platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity 0 all_cancers(60;1.57e-05)|Ovarian(47;0.103) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) TACGACGTGGAGAACGACCGG 0.577000 SPIB 6689 broad.mit.edu 37 19 50926202 50926202 + Missense_Mutation SNP T T A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr19:50926202T>A uc002psd.2 + 4 272 c.247T>A c.(247-249)TAC>AAC p.Y83N SPIB_uc002pse.2_Missense_Mutation_p.Y83N|SPIB_uc010ycc.1_Intron NM_003121 NP_003112 Q01892 SPIB_HUMAN Spi-B transcription factor (Spi-1/PU.1 related) 83 regulation of transcription from RNA polymerase II promoter cytoplasm|microtubule cytoskeleton|nucleus sequence-specific DNA binding lung(1)|kidney(1) 2 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186) ACCCCCCACCTACAGCCCTGC 0.687000 MBOAT7 79143 broad.mit.edu 37 19 54678121 54678121 + Missense_Mutation SNP C C T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr19:54678121C>T uc002qdq.2 - 9 1302 c.1036G>A c.(1036-1038)GCC>ACC p.A346T TMC4_uc010erf.2_5'Flank|TMC4_uc002qdo.2_5'Flank|MBOAT7_uc010erg.2_Missense_Mutation_p.A30T|MBOAT7_uc010yem.1_Missense_Mutation_p.A328T|MBOAT7_uc002qdr.2_Missense_Mutation_p.A346T|MBOAT7_uc002qds.2_Missense_Mutation_p.A273T|MBOAT7_uc010yen.1_Missense_Mutation_p.A273T NM_024298 NP_077274 Q96N66 MBOA7_HUMAN membrane bound O-acyltransferase domain 346 phospholipid biosynthetic process integral to membrane acyltransferase activity 0 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) ATGGTCCAGGCGCTCCTGAGG 0.463000 NLRP11 204801 broad.mit.edu 37 19 56329269 56329269 + Splice_Site SNP C C T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr19:56329269C>T uc010ygf.1 - 4 982 c.271_splice c.e4+1 p.R91_splice NLRP11_uc002qmb.2_Intron|NLRP11_uc002qmc.2_Intron|NLRP11_uc010ete.1_Splice_Site NM_145007 NP_659444 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 ATP binding ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 6 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) ACCCCACTCACGGTTTCGTCT 0.388000 ZNF835 90485 broad.mit.edu 37 19 57175530 57175530 + Missense_Mutation SNP A A G TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr19:57175530A>G uc010ygo.1 - 2 1103 c.1103T>C c.(1102-1104)GTG>GCG p.V368A ZNF835_uc010ygn.1_Missense_Mutation_p.V346A NM_001005850 NP_001005850 zinc finger protein 835 pancreas(3)|skin(1) 4 CAGGTGCGACACCTGGGTGAA 0.692000 ADAM17 6868 broad.mit.edu 37 2 9630307 9630307 + Nonstop_Mutation SNP T T A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr2:9630307T>A uc002qzu.2 - 19 2657 c.2474A>T c.(2473-2475)TAA>TTA p.*825L IAH1_uc010yiz.1_Intron|ADAM17_uc010ewy.2_Nonstop_Mutation_p.*808L|ADAM17_uc010ewz.2_Nonstop_Mutation_p.*168L NM_003183 NP_003174 P78536 ADA17_HUMAN a disintegrin and metalloprotease domain 17 825 B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding lung(1)|kidney(1) 2 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.225) AGAACTAAATTAGCACTCTGT 0.408000 ACTG2 72 broad.mit.edu 37 2 74129543 74129543 + Missense_Mutation SNP C C A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr2:74129543C>A uc002sjw.2 + 3 305 c.183C>A c.(181-183)AGC>AGA p.S61R ACTG2_uc010fex.1_Missense_Mutation_p.S61R|ACTG2_uc010fey.2_Missense_Mutation_p.S61R|ACTG2_uc010yrn.1_Intron NM_001615 NP_001606 P63267 ACTH_HUMAN actin, gamma 2 propeptide 61 muscle contraction cytoskeleton|cytosol ATP binding 0 AGGCTCAGAGCAAGCGAGGGA 0.493000 CTNNA2 1496 broad.mit.edu 37 2 80808879 80808879 + Missense_Mutation SNP G G T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr2:80808879G>T uc010ysh.1 + 13 1947 c.1942G>T c.(1942-1944)GAT>TAT p.D648Y CTNNA2_uc010yse.1_Missense_Mutation_p.D648Y|CTNNA2_uc010ysf.1_Missense_Mutation_p.D648Y|CTNNA2_uc010ysg.1_Missense_Mutation_p.D648Y|CTNNA2_uc010ysi.1_Missense_Mutation_p.D280Y NM_004389 NP_004380 P26232 CTNA2_HUMAN catenin, alpha 2 isoform 1 648 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton pancreas(4)|lung(3)|breast(1)|skin(1) 9 GGAAGATTATGATGTGCGTAG 0.458000 SPOPL 339745 broad.mit.edu 37 2 139326567 139326567 + Missense_Mutation SNP T T A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr2:139326567T>A uc002tvh.2 + 11 1496 c.1096T>A c.(1096-1098)TTA>ATA p.L366I NM_001001664 NP_001001664 Q6IQ16 SPOPL_HUMAN speckle-type POZ protein-like 366 nucleus skin(2)|breast(1) 3 BRCA - Breast invasive adenocarcinoma(221;0.0296) TCACCCTCATTTAGTAGCAGA 0.413000 SLC4A10 57282 broad.mit.edu 37 2 162821608 162821608 + Silent SNP G G A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr2:162821608G>A uc002ubx.3 + 23 3268 c.3084G>A c.(3082-3084)ACG>ACA p.T1028T SLC4A10_uc002uby.3_Silent_p.T998T|SLC4A10_uc010zcs.1_Silent_p.T1009T NM_022058 NP_071341 Q6U841 S4A10_HUMAN solute carrier family 4, sodium bicarbonate 1028 Cytoplasmic (Potential). bicarbonate transport|chloride transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity|symporter activity ovary(2)|lung(2)|pancreas(1) 5 TGTTGTTCACGAAGCGGGAAC 0.353000 TTN 7273 broad.mit.edu 37 2 179584365 179584365 + Missense_Mutation SNP C C T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr2:179584365C>T uc010zfg.1 - 79 20346 c.20122G>A c.(20122-20124)GAA>AAA p.E6708K TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E3369K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 7635 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) TCACTCATTTCGGCACAGGGG 0.403000 HSPD1 3329 broad.mit.edu 37 2 198362005 198362005 + Missense_Mutation SNP T T C TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr2:198362005T>C uc002uui.2 - 3 423 c.286A>G c.(286-288)AAA>GAA p.K96E HSPD1_uc002uuj.2_Missense_Mutation_p.K96E|HSPD1_uc010zgx.1_Missense_Mutation_p.K96E|HSPD1_uc010fsm.2_Intron|HSPD1_uc002uuk.2_Missense_Mutation_p.K96E|HSPD1_uc010zgy.1_Missense_Mutation_p.K96E|HSPE1_uc002uul.2_5'Flank NM_002156 NP_002147 P10809 CH60_HUMAN chaperonin 96 'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding 0 Epithelial(96;0.225) TGAACAAGTTTAGCTCCAATG 0.413000 ERBB4 2066 broad.mit.edu 37 2 212286786 212286786 + Silent SNP C C T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr2:212286786C>T uc002veg.1 - 24 3008 c.2910G>A c.(2908-2910)CTG>CTA p.L970L ERBB4_uc002veh.1_Silent_p.L970L|ERBB4_uc010zji.1_Silent_p.L960L|ERBB4_uc010zjj.1_Silent_p.L960L NM_005235 NP_005226 Q15303 ERBB4_HUMAN v-erb-a erythroblastic leukemia viral oncogene 970 Protein kinase.|Cytoplasmic (Potential). cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 33 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) ACTCAGCAGCCAGTTCCTTAA 0.393000 TSP Lung(8;0.080) SPEG 10290 broad.mit.edu 37 2 220355285 220355285 + Missense_Mutation SNP C C A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr2:220355285C>A uc010fwg.2 + 37 9076 c.9076C>A c.(9076-9078)CAC>AAC p.H3026N NM_005876 NP_005867 Q15772 SPEG_HUMAN SPEG complex locus 3026 Protein kinase 2. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity stomach(9)|ovary(4)|central_nervous_system(1) 14 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) CATGTCCCTGCACGAGGCCTA 0.627000 ADAM33 80332 broad.mit.edu 37 20 3654882 3654882 + Missense_Mutation SNP A A G TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr20:3654882A>G uc002wit.2 - 7 737 c.650T>C c.(649-651)GTG>GCG p.V217A ADAM33_uc002wir.1_Missense_Mutation_p.V217A|ADAM33_uc002wis.2_5'Flank|ADAM33_uc002wiu.2_Missense_Mutation_p.V217A|ADAM33_uc002wiw.1_RNA|ADAM33_uc010gba.1_Intron|ADAM33_uc010gbb.1_Intron|ADAM33_uc002wix.1_Missense_Mutation_p.V140A|ADAM33_uc010zqg.1_Missense_Mutation_p.V229A|ADAM33_uc010zqh.1_Missense_Mutation_p.V217A NM_025220 NP_079496 Q9BZ11 ADA33_HUMAN ADAM metallopeptidase domain 33 isoform alpha 217 Extracellular (Potential).|Peptidase M12B. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding large_intestine(2)|ovary(1)|skin(1) 4 GTGGTCTGCCACAATGTACAG 0.647000 RALGAPB 57148 broad.mit.edu 37 20 37137784 37137784 + Missense_Mutation SNP C C G TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr20:37137784C>G uc002xiw.2 + 6 1062 c.805C>G c.(805-807)CTG>GTG p.L269V RALGAPB_uc010zvz.1_Missense_Mutation_p.L269V|RALGAPB_uc002xix.2_Missense_Mutation_p.L269V|RALGAPB_uc002xiy.1_Missense_Mutation_p.L269V|RALGAPB_uc002xiz.2_Missense_Mutation_p.L47V|RALGAPB_uc002xja.1_5'UTR NM_020336 NP_065069 Q86X10 RLGPB_HUMAN Ral GTPase activating protein, beta subunit 269 activation of Ral GTPase activity intracellular protein heterodimerization activity|Ral GTPase activator activity pancreas(1)|skin(1) 2 AGATGCCAGTCTGATCCCTCC 0.368000 PTPRT 11122 broad.mit.edu 37 20 40714431 40714431 + Silent SNP G G A rs34623060 TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr20:40714431G>A uc002xkg.2 - 28 4093 c.3909C>T c.(3907-3909)TTC>TTT p.F1303F PTPRT_uc010ggj.2_Silent_p.F1322F|PTPRT_uc010ggi.2_Silent_p.F506F NM_007050 NP_008981 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 1303 Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity skin(8)|ovary(7)|lung(5) 20 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) CTGCGGAGACGAACTCCACCT 0.552000 SLC2A10 81031 broad.mit.edu 37 20 45354654 45354654 + Missense_Mutation SNP C C T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr20:45354654C>T uc002xsl.2 + 2 1076 c.979C>T c.(979-981)CCA>TCA p.P327S NM_030777 NP_110404 O95528 GTR10_HUMAN solute carrier family 2 member 10 327 Extracellular (Potential). endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity ovary(1) 1 Myeloproliferative disorder(115;0.0122) GGACTCAGGCCCAAGCTGTCT 0.637000 ARFRP1 10139 broad.mit.edu 37 20 62331861 62331861 + Silent SNP G G A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr20:62331861G>A uc002yga.2 - 7 1107 c.540C>T c.(538-540)ATC>ATT p.I180I ARFRP1_uc002ygc.2_Silent_p.I180I|ARFRP1_uc002ygh.3_3'UTR|ARFRP1_uc011abf.1_3'UTR|ARFRP1_uc011abg.1_3'UTR|ARFRP1_uc002yge.2_RNA|ARFRP1_uc002ygd.2_RNA|ARFRP1_uc002ygf.2_Silent_p.I180I|ARFRP1_uc002ygg.2_RNA|ARFRP1_uc011abh.1_RNA NM_003224 NP_003215 Q13795 ARFRP_HUMAN ADP-ribosylation factor related protein 1 180 small GTPase mediated signal transduction Golgi apparatus|membrane fraction GTP binding|GTPase activity breast(1)|skin(1) 2 all_cancers(38;9.53e-13)|all_epithelial(29;2.64e-14)|Lung NSC(23;7e-10)|all_lung(23;2.53e-09) Epithelial(9;4.09e-08)|all cancers(9;1.7e-07)|OV - Ovarian serous cystadenocarcinoma(5;0.0102) CCATCCACTCGATGCCCTCGC 0.697000 ZGPAT 84619 broad.mit.edu 37 20 62339972 62339972 + Missense_Mutation SNP C C G TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr20:62339972C>G uc002ygk.2 + 2 218 c.40C>G c.(40-42)CGT>GGT p.R14G ARFRP1_uc002yga.2_5'Flank|ARFRP1_uc002ygc.2_5'Flank|ARFRP1_uc002ygh.3_5'Flank|ARFRP1_uc011abf.1_5'Flank|ARFRP1_uc011abg.1_5'Flank|ARFRP1_uc002yge.2_5'Flank|ARFRP1_uc002ygd.2_5'Flank|ARFRP1_uc002ygf.2_5'Flank|ARFRP1_uc002ygg.2_5'Flank|ARFRP1_uc011abh.1_5'Flank|ZGPAT_uc002ygi.2_Missense_Mutation_p.R14G|ZGPAT_uc002ygj.2_Missense_Mutation_p.R14G|ZGPAT_uc010gkk.1_Intron|ZGPAT_uc010gkl.1_Missense_Mutation_p.R14G|ZGPAT_uc002ygm.2_Missense_Mutation_p.R14G|ZGPAT_uc002ygn.3_RNA NM_032527 NP_115916 Q8N5A5 ZGPAT_HUMAN zinc finger, CCCH-type with G patch domain 14 negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09) GCAGACCTACCGTGCGCAGCT 0.667000 UCKL1 54963 broad.mit.edu 37 20 62577873 62577873 + Missense_Mutation SNP G G C TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr20:62577873G>C uc010gkn.2 - 2 280 c.237C>G c.(235-237)ATC>ATG p.I79M UCKL1_uc011abm.1_Missense_Mutation_p.I64M|UCKL1_uc011abn.1_RNA|UCKL1_uc011abo.1_RNA NM_017859 NP_060329 Q9NWZ5 UCKL1_HUMAN uridine-cytidine kinase 1-like 1 79 interspecies interaction between organisms endoplasmic reticulum|nucleus ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity 0 all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08) CGGCGGTGTAGATGGTACGCT 0.672000 DSCAM 1826 broad.mit.edu 37 21 41496224 41496224 + Silent SNP C C T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr21:41496224C>T uc002yyq.1 - 20 4046 c.3594G>A c.(3592-3594)GCG>GCA p.A1198A DSCAM_uc002yyr.1_RNA NM_001389 NP_001380 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule isoform 1198 Fibronectin type-III 4.|Extracellular (Potential). cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding ovary(6)|skin(4)|upper_aerodigestive_tract(1) 11 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) CTGAGGCCGCCGCTGCCTTCA 0.597000 KRTAP10-5 386680 broad.mit.edu 37 21 46000423 46000423 + Silent SNP G G A rs139901000 by1000genomes TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr21:46000423G>A uc002zfl.1 - 1 59 c.33C>T c.(31-33)AGC>AGT p.S11S C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198694 NP_941967 P60370 KR105_HUMAN keratin associated protein 10-5 11 keratin filament 0 CAGAGCAAGCGCTGGAGCAGA 0.592000 DEPDC5 9681 broad.mit.edu 37 22 32275619 32275619 + Missense_Mutation SNP A A G TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr22:32275619A>G uc003als.2 + 37 3963 c.3821A>G c.(3820-3822)CAC>CGC p.H1274R DEPDC5_uc011als.1_Missense_Mutation_p.H1205R|DEPDC5_uc011alu.1_Missense_Mutation_p.H1305R|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Missense_Mutation_p.H1296R|DEPDC5_uc003alu.2_Missense_Mutation_p.H723R|DEPDC5_uc003alv.2_RNA|DEPDC5_uc003alw.2_Missense_Mutation_p.H572R|DEPDC5_uc011alx.1_Missense_Mutation_p.H122R|DEPDC5_uc010gwk.2_Missense_Mutation_p.H300R|DEPDC5_uc011aly.1_Missense_Mutation_p.H122R NM_014662 NP_055477 O75140 DEPD5_HUMAN DEP domain containing 5 isoform 1 1274 intracellular signal transduction ovary(4)|central_nervous_system(3)|pancreas(1) 8 GAGCTCGTGCACTCTGAGATT 0.607000 EPHA3 2042 broad.mit.edu 37 3 89456511 89456511 + Missense_Mutation SNP T T G TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr3:89456511T>G uc003dqy.2 + 8 1912 c.1687T>G c.(1687-1689)TTG>GTG p.L563V EPHA3_uc010hon.1_RNA NM_005233 NP_005224 P29320 EPHA3_HUMAN ephrin receptor EphA3 isoform a precursor 563 Helical; (Potential). extracellular region|integral to plasma membrane ATP binding lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1) 33 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) CATCTATGTTTTGATTGGGAG 0.428000 TSP Lung(6;0.00050) ARHGAP31 57514 broad.mit.edu 37 3 119133443 119133443 + Silent SNP C C T rs140312580 by1000genomes TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr3:119133443C>T uc003ecj.3 + 12 3199 c.2667C>T c.(2665-2667)GAC>GAT p.D889D NM_020754 NP_065805 Q2M1Z3 RHG31_HUMAN Cdc42 GTPase-activating protein 889 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion|lamellipodium GTPase activator activity ovary(2) 2 CAGACTGTGACGAAGATGACA 0.562000 ARHGAP31 57514 broad.mit.edu 37 3 119133998 119133998 + Silent SNP C C T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr3:119133998C>T uc003ecj.3 + 12 3754 c.3222C>T c.(3220-3222)AGC>AGT p.S1074S NM_020754 NP_065805 Q2M1Z3 RHG31_HUMAN Cdc42 GTPase-activating protein 1074 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion|lamellipodium GTPase activator activity ovary(2) 2 GTTCACCCAGCGTGCAGGACA 0.577000 NEK11 79858 broad.mit.edu 37 3 130887684 130887684 + Missense_Mutation SNP A A G TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr3:130887684A>G uc003eny.2 + 13 1513 c.1187A>G c.(1186-1188)CAT>CGT p.H396R NEK11_uc003enx.2_Missense_Mutation_p.H396R|NEK11_uc003eoa.2_Missense_Mutation_p.H396R|NEK11_uc003enz.2_Missense_Mutation_p.H214R|NEK11_uc010htn.2_RNA|NEK11_uc011blk.1_Intron|NEK11_uc011bll.1_Missense_Mutation_p.H291R|NEK11_uc011blm.1_Missense_Mutation_p.H396R NM_024800 NP_079076 Q8NG66 NEK11_HUMAN NIMA-related kinase 11 isoform 1 396 cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade nucleolus ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity large_intestine(4)|stomach(1)|central_nervous_system(1) 6 GAAAAAACACATTTAAAAGGA 0.453000 XRN1 54464 broad.mit.edu 37 3 142048403 142048403 + Missense_Mutation SNP A A G TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr3:142048403A>G uc003eus.2 - 37 4341 c.4274T>C c.(4273-4275)ATG>ACG p.M1425T XRN1_uc010huu.2_Missense_Mutation_p.M892T|XRN1_uc003eut.2_Missense_Mutation_p.M1425T|XRN1_uc003euu.2_Missense_Mutation_p.M1426T NM_019001 NP_061874 Q8IZH2 XRN1_HUMAN 5'-3' exoribonuclease 1 isoform a 1425 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane 5'-3' exonuclease activity|DNA binding|protein binding|RNA binding ovary(3) 3 CATATTGTCCATAGACTGAAC 0.398000 SI 6476 broad.mit.edu 37 3 164712098 164712098 + Missense_Mutation SNP T T A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr3:164712098T>A uc003fei.2 - 41 4850 c.4788A>T c.(4786-4788)CAA>CAT p.Q1596H NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 1596 Sucrase.|Lumenal. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TTTCATGCATTTGTGTGTAAA 0.363000 HNSCC(35;0.089) JAKMIP1 152789 broad.mit.edu 37 4 6107560 6107560 + Silent SNP G G A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr4:6107560G>A uc003giu.3 - 3 540 c.264C>T c.(262-264)CGC>CGT p.R88R JAKMIP1_uc010idb.1_Silent_p.R88R|JAKMIP1_uc010idc.1_Intron|JAKMIP1_uc010idd.1_Silent_p.R88R|JAKMIP1_uc011bwc.1_Intron|JAKMIP1_uc003giv.3_Silent_p.R88R|JAKMIP1_uc010ide.2_Silent_p.R88R NM_144720 NP_653321 Q96N16 JKIP1_HUMAN janus kinase and microtubule interacting protein 88 Potential.|Mediates association with microtubules. protein transport cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex GABA receptor binding|RNA binding large_intestine(1)|pancreas(1)|ovary(1)|skin(1) 4 TGAGCCCCTCGCGCAGCGCCT 0.682000 SLIT2 9353 broad.mit.edu 37 4 20618788 20618788 + Missense_Mutation SNP A A T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr4:20618788A>T uc003gpr.1 + 35 4307 c.4103A>T c.(4102-4104)GAC>GTC p.D1368V SLIT2_uc003gps.1_Missense_Mutation_p.D1360V NM_004787 NP_004778 O94813 SLIT2_HUMAN slit homolog 2 precursor 1368 EGF-like 7. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding central_nervous_system(4)|skin(4)|ovary(3) 11 CCCCTCTGTGACCAACGGACC 0.562000 GABRG1 2565 broad.mit.edu 37 4 46067511 46067511 + Missense_Mutation SNP T T C TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr4:46067511T>C uc003gxb.2 - 4 564 c.412A>G c.(412-414)AAT>GAT p.N138D NM_173536 NP_775807 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid A receptor, gamma 1 138 Extracellular (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity ovary(2) 2 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) CCAACCATATTACTGTTAAGC 0.328000 GABRB1 2560 broad.mit.edu 37 4 47033961 47033961 + Silent SNP G G A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr4:47033961G>A uc003gxh.2 + 2 485 c.111G>A c.(109-111)GTG>GTA p.V37V GABRB1_uc011bze.1_5'UTR|GABRB1_uc011bzd.1_Silent_p.V37V|GABRB1_uc010igg.2_RNA NM_000812 NP_000803 P18505 GBRB1_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 37 Extracellular (Probable). synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2) 2 Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) TGTCATACGTGAAAGAGACAG 0.448000 RUFY3 22902 broad.mit.edu 37 4 71654634 71654634 + Missense_Mutation SNP C C T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr4:71654634C>T uc003hfq.2 + 11 1778 c.1183C>T c.(1183-1185)CGG>TGG p.R395W RUFY3_uc003hfp.3_Missense_Mutation_p.R455W|RUFY3_uc011cax.1_Missense_Mutation_p.R413W|RUFY3_uc003hfr.2_Missense_Mutation_p.R395W|RUFY3_uc011cay.1_Missense_Mutation_p.R331W NM_014961 NP_055776 Q7L099 RUFY3_HUMAN RUN and FYVE domain containing 3 isoform 2 395 Potential. negative regulation of axonogenesis filopodium|growth cone 0 all_hematologic(202;0.248) Lung(101;0.235) GGTATCTCTTCGGCAGCAGCT 0.493000 PPEF2 5470 broad.mit.edu 37 4 76794425 76794425 + Missense_Mutation SNP C C A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr4:76794425C>A uc003hix.2 - 12 1718 c.1361G>T c.(1360-1362)GGC>GTC p.G454V PPEF2_uc003hiy.2_RNA|PPEF2_uc003hiz.1_Missense_Mutation_p.G454V NM_006239 NP_006230 O14830 PPE2_HUMAN serine/threonine protein phosphatase with 454 Catalytic. detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception cytoplasm|photoreceptor inner segment|photoreceptor outer segment calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity ovary(2)|lung(1)|central_nervous_system(1) 4 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) GGCCTTGCAGCCCTCTTGAGC 0.443000 ARHGAP24 83478 broad.mit.edu 37 4 86863309 86863309 + Missense_Mutation SNP A A T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr4:86863309A>T uc003hpk.2 + 5 931 c.482A>T c.(481-483)GAC>GTC p.D161V ARHGAP24_uc003hpj.2_Missense_Mutation_p.D161V|ARHGAP24_uc003hpl.2_Missense_Mutation_p.D66V|ARHGAP24_uc010ikf.2_Missense_Mutation_p.D76V|ARHGAP24_uc003hpm.2_Missense_Mutation_p.D68V NM_001025616 NP_001020787 Q8N264 RHG24_HUMAN Rho GTPase activating protein 24 isoform 1 161 Rho-GAP. angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell projection|cytoskeleton|cytosol|focal adhesion GTPase activator activity|protein binding 0 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.000571) CAGTGCGTGGACTTTATCCGA 0.488000 ARHGAP24 83478 broad.mit.edu 37 4 86863412 86863412 + Missense_Mutation SNP G G T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr4:86863412G>T uc003hpk.2 + 5 1034 c.585G>T c.(583-585)AAG>AAT p.K195N ARHGAP24_uc003hpj.2_Missense_Mutation_p.K195N|ARHGAP24_uc003hpl.2_Missense_Mutation_p.K100N|ARHGAP24_uc010ikf.2_Missense_Mutation_p.K110N|ARHGAP24_uc003hpm.2_Missense_Mutation_p.K102N NM_001025616 NP_001020787 Q8N264 RHG24_HUMAN Rho GTPase activating protein 24 isoform 1 195 Rho-GAP. angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell projection|cytoskeleton|cytosol|focal adhesion GTPase activator activity|protein binding 0 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.000571) GTGGGGAGAAGCCATCATTTG 0.473000 ARHGAP24 83478 broad.mit.edu 37 4 86921732 86921732 + Nonsense_Mutation SNP C C T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr4:86921732C>T uc003hpk.2 + 10 2553 c.2104C>T c.(2104-2106)CGA>TGA p.R702* ARHGAP24_uc003hpl.2_Nonsense_Mutation_p.R607*|ARHGAP24_uc010ikf.2_Nonsense_Mutation_p.R617*|ARHGAP24_uc003hpm.2_Nonsense_Mutation_p.R609* NM_001025616 NP_001020787 Q8N264 RHG24_HUMAN Rho GTPase activating protein 24 isoform 1 702 Potential. angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell projection|cytoskeleton|cytosol|focal adhesion GTPase activator activity|protein binding 0 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.000571) AATAAAAATGCGAAATGCCGA 0.403000 NHEDC1 150159 broad.mit.edu 37 4 103912856 103912856 + Nonsense_Mutation SNP C C A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr4:103912856C>A uc003hww.2 - 2 135 c.13G>T c.(13-15)GAA>TAA p.E5* NHEDC1_uc003hwu.2_Nonsense_Mutation_p.E5*|NHEDC1_uc010ilm.2_5'UTR|NHEDC1_uc003hwv.2_RNA|NHEDC1_uc011cev.1_5'UTR NM_139173 NP_631912 Q4ZJI4 NHDC1_HUMAN Na+/H+ exchanger domain containing 1 isoform 1 5 integral to membrane solute:hydrogen antiporter activity ovary(1)|skin(1) 2 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;1.5e-08) TTTTTTGATTCTGTGGTATGC 0.269000 ANK2 287 broad.mit.edu 37 4 114267061 114267061 + Silent SNP C C T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr4:114267061C>T uc003ibe.3 + 35 4354 c.4254C>T c.(4252-4254)CGC>CGT p.R1418R ANK2_uc003ibd.3_Silent_p.R1409R|ANK2_uc003ibf.3_Silent_p.R1418R|ANK2_uc011cgc.1_Silent_p.R594R|ANK2_uc003ibg.3_Silent_p.R413R|ANK2_uc003ibh.3_Silent_p.R92R|ANK2_uc011cgb.1_Silent_p.R1433R NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 1385 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) TCAAGGTACGCGATACGACTC 0.393000 KIAA1109 84162 broad.mit.edu 37 4 123271022 123271022 + Missense_Mutation SNP G G T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr4:123271022G>T uc003ieh.2 + 78 13687 c.13642G>T c.(13642-13644)GTC>TTC p.V4548F KIAA1109_uc003iem.2_Missense_Mutation_p.V904F NM_015312 NP_056127 Q2LD37 K1109_HUMAN fragile site-associated protein 4548 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1) 12 TGAGATTTTCGTCCATGGAGA 0.368000 FAT4 79633 broad.mit.edu 37 4 126370306 126370306 + Missense_Mutation SNP T T A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr4:126370306T>A uc003ifj.3 + 9 8135 c.8135T>A c.(8134-8136)ATG>AAG p.M2712K FAT4_uc011cgp.1_Missense_Mutation_p.M1010K|FAT4_uc003ifi.1_Missense_Mutation_p.M190K NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 2712 Cadherin 26.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 AATGGCAACATGGAAAATAGT 0.373000 TKTL2 84076 broad.mit.edu 37 4 164393459 164393459 + Silent SNP G G T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr4:164393459G>T uc003iqp.3 - 1 1589 c.1428C>A c.(1426-1428)ACC>ACA p.T476T NM_032136 NP_115512 Q9H0I9 TKTL2_HUMAN transketolase-like 2 476 cytoplasm metal ion binding|transketolase activity ovary(2)|skin(2)|pancreas(1) 5 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) CTGGTTGGCTGGTTCGAATGA 0.448000 TLL1 7092 broad.mit.edu 37 4 166795130 166795130 + Missense_Mutation SNP T T A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr4:166795130T>A uc003irh.1 + 1 721 c.74T>A c.(73-75)CTA>CAA p.L25Q TLL1_uc011cjn.1_Missense_Mutation_p.L25Q|TLL1_uc011cjo.1_5'UTR NM_012464 NP_036596 O43897 TLL1_HUMAN tolloid-like 1 precursor 25 cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding skin(3)|ovary(2)|breast(1)|central_nervous_system(1) 7 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) TACGGGGAGCTATGGGTCTGC 0.542000 AADAT 51166 broad.mit.edu 37 4 170985953 170985953 + Missense_Mutation SNP C C G TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr4:170985953C>G uc003isr.2 - 11 1393 c.1051G>C c.(1051-1053)GCT>CCT p.A351P AADAT_uc003iss.2_Missense_Mutation_p.A351P|AADAT_uc003ist.2_Missense_Mutation_p.A355P NM_016228 NP_057312 Q8N5Z0 AADAT_HUMAN kynurenine aminotransferase II 351 2-oxoglutarate metabolic process|biosynthetic process|glutamate metabolic process|lysine catabolic process mitochondrial matrix 2-aminoadipate transaminase activity|kynurenine-oxoglutarate transaminase activity|protein homodimerization activity 0 Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17) GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118) L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) ATTCCAGCAGCAGGAACATGC 0.368000 HTR1A 3350 broad.mit.edu 37 5 63256773 63256773 + Silent SNP C C T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr5:63256773C>T uc011cqt.1 - 1 774 c.774G>A c.(772-774)TCG>TCA p.S258S NM_000524 NP_000515 P08908 5HT1A_HUMAN 5-hydroxytryptamine (serotonin) receptor 1A 258 Cytoplasmic (By similarity). behavior|positive regulation of cell proliferation integral to plasma membrane serotonin receptor activity ovary(2)|pancreas(2) 4 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234) Lung(70;0.105) Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) TCCTGCTCCCCGACTCTCCAT 0.657000 SLCO6A1 133482 broad.mit.edu 37 5 101709135 101709135 + Missense_Mutation SNP C C T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr5:101709135C>T uc003knn.2 - 13 2253 c.2081G>A c.(2080-2082)CGT>CAT p.R694H SLCO6A1_uc003kno.2_Missense_Mutation_p.R441H|SLCO6A1_uc003knp.2_Missense_Mutation_p.R694H|SLCO6A1_uc003knq.2_Missense_Mutation_p.R632H NM_173488 NP_775759 Q86UG4 SO6A1_HUMAN solute carrier organic anion transporter family, 694 Cytoplasmic (Potential). integral to membrane|plasma membrane transporter activity ovary(3)|skin(3)|central_nervous_system(1) 7 all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323) Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113) CTCATTTAGACGACGTTTGTA 0.323000 SPARC 6678 broad.mit.edu 37 5 151051184 151051184 + Missense_Mutation SNP C C T rs142207246 TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr5:151051184C>T uc003luh.2 - 4 304 c.280G>A c.(280-282)GTG>ATG p.V94M GM2A_uc011dcs.1_Intron|SPARC_uc003lug.2_Intron|SPARC_uc003lui.2_Missense_Mutation_p.V94M NM_003118 NP_003109 P09486 SPRC_HUMAN secreted protein, acidic, cysteine-rich 94 Kazal-like. ossification|platelet activation|platelet degranulation|signal transduction basement membrane|extracellular space|platelet alpha granule lumen calcium ion binding|collagen binding central_nervous_system(1) 1 Medulloblastoma(196;0.109)|all_hematologic(541;0.122) Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) OV - Ovarian serous cystadenocarcinoma(192;0.00118) Becaplermin(DB00102) TCCTGGCACACGCACATGGGG 0.597000 DOCK2 1794 broad.mit.edu 37 5 169188588 169188588 + Missense_Mutation SNP C C A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr5:169188588C>A uc003maf.2 + 25 2593 c.2513C>A c.(2512-2514)TCT>TAT p.S838Y DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.S330Y NM_004946 NP_004937 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 838 actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding ovary(5)|pancreas(2) 7 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AAAGTACAGTCTATGAATGAG 0.483000 TRIM27 5987 broad.mit.edu 37 6 28872099 28872099 + Silent SNP C C T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr6:28872099C>T uc003nlr.2 - 8 1649 c.1290G>A c.(1288-1290)CGG>CGA p.R430R TRIM27_uc003nls.2_Intron|TRIM27_uc003nlt.1_3'UTR NM_006510 NP_006501 P14373 TRI27_HUMAN ret finger protein 430 B30.2/SPRY. cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding ovary(1) 1 GGAGCGGGGTCCGCAGGGGTA 0.537000 T RET papillary thyroid DHX16 8449 broad.mit.edu 37 6 30638885 30638885 + Missense_Mutation SNP C C T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr6:30638885C>T uc003nqz.2 - 2 586 c.374G>A c.(373-375)CGG>CAG p.R125Q DHX16_uc011dmo.1_Missense_Mutation_p.R65Q NM_003587 NP_003578 O60231 DHX16_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 16 125 mRNA processing|RNA splicing nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity ovary(2)|kidney(2) 4 GAGGTGTTTCCGCTTTTTACG 0.488000 FRS3 10817 broad.mit.edu 37 6 41738614 41738614 + Missense_Mutation SNP C C A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr6:41738614C>A uc003orc.1 - 7 1466 c.1222G>T c.(1222-1224)GGG>TGG p.G408W NM_006653 NP_006644 O43559 FRS3_HUMAN fibroblast growth factor receptor substrate 3 408 fibroblast growth factor receptor signaling pathway plasma membrane fibroblast growth factor receptor binding|insulin receptor binding ovary(2) 2 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) GGCTCGGGCCCCGGCCGGCGG 0.687000 AARS2 57505 broad.mit.edu 37 6 44270564 44270564 + Missense_Mutation SNP G G A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr6:44270564G>A uc010jza.1 - 17 2342 c.2339C>T c.(2338-2340)GCC>GTC p.A780V SPATS1_uc003oxg.2_Intron|TMEM151B_uc003oxf.2_Intron NM_020745 NP_065796 Q5JTZ9 SYAM_HUMAN alanyl-tRNA synthetase 2, mitochondrial 780 alanyl-tRNA aminoacylation mitochondrion alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding ovary(1) 1 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) L-Alanine(DB00160) CCCAGTGACGGCCAGCAGGCG 0.627000 KCNQ5 56479 broad.mit.edu 37 6 73900347 73900347 + Silent SNP A A T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr6:73900347A>T uc003pgk.2 + 12 1976 c.1629A>T c.(1627-1629)CCA>CCT p.P543P KCNQ5_uc011dyh.1_Silent_p.P562P|KCNQ5_uc011dyi.1_Silent_p.P553P|KCNQ5_uc010kat.2_Silent_p.P534P|KCNQ5_uc011dyj.1_Silent_p.P433P|KCNQ5_uc011dyk.1_Silent_p.P293P NM_019842 NP_062816 Q9NR82 KCNQ5_HUMAN potassium voltage-gated channel, KQT-like 543 protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity ovary(4)|large_intestine(2)|skin(1) 7 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) CATTACGTCCATATGATGTAA 0.303000 CCNC 892 broad.mit.edu 37 6 100009499 100009499 + Silent SNP C C T rs142699138 TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr6:100009499C>T uc003pqe.2 - 3 485 c.198G>A c.(196-198)ACG>ACA p.T66T uc003pqc.2_Intron|CCNC_uc003pqd.2_5'UTR|CCNC_uc010kcr.2_RNA|CCNC_uc010kcs.2_Silent_p.T66T|CCNC_uc011eah.1_5'UTR|CCNC_uc003pqf.2_Silent_p.T66T NM_005190 NP_005181 P24863 CCNC_HUMAN cyclin C isoform a 66 Cyclin N-terminal. regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA-directed RNA polymerase II, holoenzyme protein kinase binding 0 all_cancers(76;8.46e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186) BRCA - Breast invasive adenocarcinoma(108;0.064) TGAAATATACCGTAGCAGTGG 0.299000 TPD52L1 7164 broad.mit.edu 37 6 125584070 125584070 + Missense_Mutation SNP G G C TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr6:125584070G>C uc003pzu.1 + 7 796 c.577G>C c.(577-579)GGC>CGC p.G193R TPD52L1_uc003pzv.1_3'UTR|TPD52L1_uc003pzw.1_3'UTR|TPD52L1_uc003pzy.1_Missense_Mutation_p.G164R|TPD52L1_uc003pzz.1_3'UTR NM_003287 NP_003278 Q16890 TPD53_HUMAN tumor protein D52-like 1 isoform 1 193 DNA fragmentation involved in apoptotic nuclear change|G2/M transition of mitotic cell cycle|induction of apoptosis|positive regulation of JNK cascade|positive regulation of MAP kinase activity perinuclear region of cytoplasm caspase activator activity|protein heterodimerization activity|protein homodimerization activity 0 LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828) GBM - Glioblastoma multiforme(226;0.0265) CTTGGCAGGAGGCTCCCGGCG 0.612000 C6orf174 387104 broad.mit.edu 37 6 127796864 127796864 + Silent SNP C C T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr6:127796864C>T uc003qbd.2 - 6 3172 c.2307G>A c.(2305-2307)CCG>CCA p.P769P C6orf174_uc003qbc.2_5'Flank NM_001012279 NP_001012279 Q5TF21 CF174_HUMAN hypothetical protein LOC387104 precursor 769 integral to membrane breast(3)|ovary(2)|skin(1) 6 GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161) GCTTGCGGTGCGGAGGCCGCG 0.731000 PCLO 27445 broad.mit.edu 37 7 82579130 82579130 + Missense_Mutation SNP G G A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr7:82579130G>A uc003uhx.2 - 6 11063 c.10774C>T c.(10774-10776)CGC>TGC p.R3592C PCLO_uc003uhv.2_Missense_Mutation_p.R3592C|PCLO_uc010lec.2_Missense_Mutation_p.R557C NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 3523 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 GGTGTTGGGCGTTTCTTGTCT 0.483000 ABCB1 5243 broad.mit.edu 37 7 87179782 87179782 + Splice_Site SNP A A G TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr7:87179782A>G uc003uiz.1 - 12 1642 c.1224_splice c.e12+1 p.K408_splice ABCB1_uc011khc.1_Splice_Site_p.K344_splice NM_000927 NP_000918 P08183 MDR1_HUMAN ATP-binding cassette, subfamily B, member 1 G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 7 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) TTATCACTGTACCTTAACTTC 0.313000 CCDC132 55610 broad.mit.edu 37 7 92887535 92887535 + Missense_Mutation SNP A A G TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr7:92887535A>G uc003umo.2 + 7 615 c.487A>G c.(487-489)AAA>GAA p.K163E CCDC132_uc003umq.2_RNA|CCDC132_uc003ump.2_Missense_Mutation_p.K133E|CCDC132_uc003umr.2_RNA|CCDC132_uc011khz.1_Intron|CCDC132_uc003umn.2_Missense_Mutation_p.K163E NM_017667 NP_060137 Q96JG6 CC132_HUMAN coiled-coil domain containing 132 isoform a 163 0 all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837) STAD - Stomach adenocarcinoma(171;0.000302) AAATCAAAGGAAACGTCAGTT 0.308000 OR2AE1 81392 broad.mit.edu 37 7 99473925 99473925 + Silent SNP G G T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr7:99473925G>T uc003usc.1 - 1 732 c.732C>A c.(730-732)CTC>CTA p.L244L NM_001005276 NP_001005276 Q8NHA4 O2AE1_HUMAN olfactory receptor, family 2, subfamily AE, 244 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) AAACCACCGTGAGGTGGGAGC 0.478000 CUX1 1523 broad.mit.edu 37 7 101821910 101821910 + Missense_Mutation SNP G G T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr7:101821910G>T uc003uyx.3 + 11 1028 c.990G>T c.(988-990)CAG>CAT p.Q330H CUX1_uc003uys.3_Missense_Mutation_p.Q341H|CUX1_uc003uyt.2_Missense_Mutation_p.Q341H|CUX1_uc011kkn.1_Missense_Mutation_p.Q302H|CUX1_uc003uyw.2_Missense_Mutation_p.Q295H|CUX1_uc003uyv.2_Missense_Mutation_p.Q325H|CUX1_uc003uyu.2_Missense_Mutation_p.Q339H NM_181552 NP_853530 P39880 CUX1_HUMAN cut-like homeobox 1 isoform a 330 Potential. negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1) 8 TTGAGCAGCAGCTGAGCGCCA 0.647000 AASS 10157 broad.mit.edu 37 7 121773576 121773576 + Missense_Mutation SNP C C G TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr7:121773576C>G uc003vka.2 - 1 301 c.205G>C c.(205-207)GAT>CAT p.D69H AASS_uc011knu.1_RNA|AASS_uc011knv.1_RNA|AASS_uc003vkb.2_Missense_Mutation_p.D69H|AASS_uc011knw.1_Intron NM_005763 NP_005754 Q9UDR5 AASS_HUMAN aminoadipate-semialdehyde synthase precursor 69 Lysine-ketoglutarate reductase. protein tetramerization mitochondrial matrix binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity upper_aerodigestive_tract(1)|ovary(1) 2 L-Glutamic Acid(DB00142)|NADH(DB00157) CTCACCTTATCATGAATGGCC 0.423000 GIMAP6 474344 broad.mit.edu 37 7 150325053 150325053 + Missense_Mutation SNP T T G TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr7:150325053T>G uc003whn.2 - 3 1057 c.633A>C c.(631-633)CAA>CAC p.Q211H GIMAP6_uc003whm.2_Missense_Mutation_p.Q131H NM_024711 NP_078987 Q6P9H5 GIMA6_HUMAN GTPase, IMAP family member 6 211 GTP binding upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GCTCTCGCAGTTGGGCCTCCT 0.537000 ABCB8 11194 broad.mit.edu 37 7 150733041 150733041 + Nonsense_Mutation SNP C C T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr7:150733041C>T uc003wil.3 + 8 1144 c.1051C>T c.(1051-1053)CAA>TAA p.Q351* ABCB8_uc003wii.2_Nonsense_Mutation_p.Q371*|ABCB8_uc003wij.3_Nonsense_Mutation_p.Q334*|ABCB8_uc010lpw.1_Missense_Mutation_p.A199V|ABCB8_uc010lpx.2_Nonsense_Mutation_p.Q334*|ABCB8_uc011kvd.1_Nonsense_Mutation_p.Q246*|ABCB8_uc003wim.3_Nonsense_Mutation_p.Q129*|ABCB8_uc003wik.3_Nonsense_Mutation_p.Q334* NM_007188 NP_009119 Q9NUT2 ABCB8_HUMAN ATP-binding cassette, sub-family B, member 8 351 ABC transmembrane type-1. ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(2)|upper_aerodigestive_tract(1) 3 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CGCCATGGAGCAACGGGAAGA 0.632000 RNF122 79845 broad.mit.edu 37 8 33416224 33416224 + Nonsense_Mutation SNP G G A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr8:33416224G>A uc003xjo.1 - 2 493 c.91C>T c.(91-93)CAG>TAG p.Q31* NM_024787 NP_079063 Q9H9V4 RN122_HUMAN ring finger protein 122 31 endoplasmic reticulum|Golgi apparatus|integral to membrane zinc ion binding 0 KIRC - Kidney renal clear cell carcinoma(67;0.0966)|Kidney(114;0.116) GGAAGGTCCTGGAAACTGATG 0.483000 SOX17 64321 broad.mit.edu 37 8 55371955 55371955 + Silent SNP C C T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr8:55371955C>T uc003xsb.3 + 2 849 c.645C>T c.(643-645)GAC>GAT p.D215D NM_022454 NP_071899 Q9H6I2 SOX17_HUMAN SRY-box 17 215 angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway transcription factor complex beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding lung(1) 1 Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181) OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159) CTCCGCTCGACGGCTACCCGT 0.766000 TRPA1 8989 broad.mit.edu 37 8 72951146 72951146 + Missense_Mutation SNP C C A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr8:72951146C>A uc003xza.2 - 19 2424 c.2249G>T c.(2248-2250)GGC>GTC p.G750V uc011lff.1_Intron|uc003xyy.2_Intron NM_007332 NP_015628 O75762 TRPA1_HUMAN ankyrin-like protein 1 750 Extracellular (Potential). integral to plasma membrane ovary(4)|lung(1)|kidney(1) 6 Epithelial(68;0.223) Menthol(DB00825) ATTGATGATGCCAGTTGAGTT 0.308000 UBR5 51366 broad.mit.edu 37 8 103297970 103297970 + Nonsense_Mutation SNP A A C TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr8:103297970A>C uc003ykr.1 - 39 5288 c.5255T>G c.(5254-5256)TTA>TGA p.L1752* UBR5_uc003yks.1_Nonsense_Mutation_p.L1752* NM_015902 NP_056986 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 1752 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1) 28 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) ACTCCGGCGTAAGTTTGAAGG 0.458000 CSMD3 114788 broad.mit.edu 37 8 113933973 113933973 + Missense_Mutation SNP A A C TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr8:113933973A>C uc003ynu.2 - 10 1675 c.1516T>G c.(1516-1518)TCA>GCA p.S506A CSMD3_uc003ynt.2_Missense_Mutation_p.S466A|CSMD3_uc011lhx.1_Missense_Mutation_p.S402A NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 506 Extracellular (Potential).|Sushi 2. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 TGCACAGTTGATCCAAGGCTA 0.383000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) TRPS1 7227 broad.mit.edu 37 8 116427158 116427158 + Nonsense_Mutation SNP A A C TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr8:116427158A>C uc003ynz.2 - 6 3398 c.2939T>G c.(2938-2940)TTA>TGA p.L980* TRPS1_uc011lhy.1_Nonsense_Mutation_p.L984*|TRPS1_uc003yny.2_Nonsense_Mutation_p.L993*|TRPS1_uc010mcy.2_Nonsense_Mutation_p.L980* NM_014112 NP_054831 Q9UHF7 TRPS1_HUMAN zinc finger transcription factor TRPS1 980 negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1) 7 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) CCTCCTCTCTAACGGGCTTCC 0.493000 Langer-Giedion_syndrome HAS2 3037 broad.mit.edu 37 8 122626532 122626532 + Silent SNP C C G TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr8:122626532C>G uc003yph.2 - 4 2014 c.1476G>C c.(1474-1476)GTG>GTC p.V492V NM_005328 NP_005319 Q92819 HAS2_HUMAN hyaluronan synthase 2 492 Helical; Name=6; (Potential). integral to plasma membrane hyaluronan synthase activity HAS2/PLAG1(10) soft_tissue(10)|ovary(5) 15 Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142) STAD - Stomach adenocarcinoma(47;0.00503) TGGTGAAAATCACACCACCCA 0.413000 LRRC6 23639 broad.mit.edu 37 8 133584696 133584696 + Missense_Mutation SNP G G T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr8:133584696G>T uc003ytk.2 - 12 1333 c.1259C>A c.(1258-1260)CCT>CAT p.P420H LRRC6_uc003ytl.2_RNA NM_012472 NP_036604 Q86X45 LRRC6_HUMAN leucine rich repeat containing 6 420 cytoplasm ovary(1)|kidney(1) 2 Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) GTGCTTGCTAGGGTCTACTTC 0.368000 CA9 768 broad.mit.edu 37 9 35680798 35680798 + Missense_Mutation SNP T T C TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr9:35680798T>C uc003zxo.3 + 10 1328 c.1286T>C c.(1285-1287)GTC>GCC p.V429A CA9_uc003zxp.3_Missense_Mutation_p.V420A NM_001216 NP_001207 Q16790 CAH9_HUMAN carbonic anhydrase IX precursor 429 Helical; (Potential). one-carbon metabolic process integral to membrane|microvillus membrane|nucleolus carbonate dehydratase activity|zinc ion binding ovary(4)|skin(1) 5 all_epithelial(49;0.217) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) GTCACCAGCGTCGCGTTCCTT 0.547000 ZNF484 83744 broad.mit.edu 37 9 95609461 95609461 + Silent SNP C C T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr9:95609461C>T uc004asu.1 - 5 1757 c.1608G>A c.(1606-1608)AAG>AAA p.K536K ANKRD19_uc004asr.3_Intron|ZNF484_uc011lub.1_Silent_p.K538K|ZNF484_uc010mrb.1_Silent_p.K500K|ZNF484_uc004asv.1_Silent_p.K500K NM_031486 NP_113674 Q5JVG2 ZN484_HUMAN zinc finger protein 484 isoform a 536 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TGAGCCGAGACTTCCAGGTGA 0.403000 PTCH1 5727 broad.mit.edu 37 9 98240429 98240429 + Missense_Mutation SNP C C T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr9:98240429C>T uc004avk.3 - 9 1443 c.1255G>A c.(1255-1257)GTG>ATG p.V419M PTCH1_uc010mro.2_Missense_Mutation_p.V268M|PTCH1_uc010mrp.2_Missense_Mutation_p.V268M|PTCH1_uc010mrq.2_Missense_Mutation_p.V268M|PTCH1_uc004avl.3_Missense_Mutation_p.V268M|PTCH1_uc010mrr.2_Missense_Mutation_p.V353M|PTCH1_uc004avm.3_Missense_Mutation_p.V418M|PTCH1_uc010mrs.1_Missense_Mutation_p.V139M NM_000264 NP_000255 Q13635 PTC1_HUMAN patched isoform L 419 Extracellular (Potential). embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway integral to plasma membrane hedgehog receptor activity skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1) 379 Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136) AAGGAAAGCACCTTTTGAGTG 0.517000 Basal_Cell_Nevus_syndrome TDRD7 23424 broad.mit.edu 37 9 100257957 100257957 + Missense_Mutation SNP A A G TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr9:100257957A>G uc004axj.2 + 17 3314 c.3089A>G c.(3088-3090)AAC>AGC p.N1030S TDRD7_uc011lux.1_Missense_Mutation_p.N956S|TDRD7_uc011luy.1_Missense_Mutation_p.N350S NM_014290 NP_055105 Q8NHU6 TDRD7_HUMAN tudor domain containing 7 1030 Interacts with CDK17 (By similarity).|Interacts with CABLES1 (By similarity). lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis chromatoid body mRNA binding ovary(2)|pancreas(1) 3 Acute lymphoblastic leukemia(62;0.158) GTGAAGTGCAACCAGTGGTCT 0.448000 SVEP1 79987 broad.mit.edu 37 9 113265372 113265372 + Missense_Mutation SNP T T C TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr9:113265372T>C uc010mtz.2 - 6 1766 c.1429A>G c.(1429-1431)AAG>GAG p.K477E SVEP1_uc010mua.1_Missense_Mutation_p.K477E|SVEP1_uc004beu.2_Missense_Mutation_p.K477E NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN polydom 477 Sushi 2. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding ovary(7) 7 CAAGTAAGCTTATCACTGCCT 0.463000 TLR4 7099 broad.mit.edu 37 9 120475724 120475724 + Missense_Mutation SNP T T G TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr9:120475724T>G uc004bjz.2 + 3 1609 c.1318T>G c.(1318-1320)TTT>GTT p.F440V TLR4_uc004bka.2_Missense_Mutation_p.F400V|TLR4_uc004bkb.2_Missense_Mutation_p.F240V NM_138554 NP_612564 O00206 TLR4_HUMAN toll-like receptor 4 precursor 440 LRR 13.|Extracellular (Potential). activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity lung(10)|ovary(4)|breast(1)|skin(1) 16 AATGAGTGAGTTTTCAGTATT 0.388000 C5 727 broad.mit.edu 37 9 123785724 123785724 + Silent SNP A A C TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr9:123785724A>C uc004bkv.2 - 10 1104 c.1074T>G c.(1072-1074)GCT>GCG p.A358A C5_uc010mvm.1_Silent_p.A358A|C5_uc010mvn.1_Silent_p.A358A NM_001735 NP_001726 P01031 CO5_HUMAN complement component 5 preproprotein 358 activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production extracellular space|membrane attack complex chemokine activity|endopeptidase inhibitor activity ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242) Eculizumab(DB01257) AAAGAGGAGTAGCAACCAAAT 0.438000 ASMTL 8623 broad.mit.edu 37 X 1557992 1557992 + Missense_Mutation SNP C C T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chrX:1557992C>T uc004cpx.1 - 3 382 c.271G>A c.(271-273)GTG>ATG p.V91M ASMTL_uc011mhe.1_Silent_p.S36S|ASMTL_uc004cpy.1_Intron|ASMTL_uc011mhf.1_Missense_Mutation_p.V33M NM_004192 NP_004183 O95671 ASML_HUMAN acetylserotonin O-methyltransferase-like 91 MAF-like. melatonin biosynthetic process cytoplasm acetylserotonin O-methyltransferase activity 0 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) GCACTCACCACGATCGTGTCC 0.547000 DMD 1756 broad.mit.edu 37 X 32366552 32366552 + Missense_Mutation SNP G G T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chrX:32366552G>T uc004dda.1 - 38 5663 c.5419C>A c.(5419-5421)CTG>ATG p.L1807M DMD_uc004dcw.2_Missense_Mutation_p.L463M|DMD_uc004dcx.2_Missense_Mutation_p.L466M|DMD_uc004dcz.2_Missense_Mutation_p.L1684M|DMD_uc004dcy.1_Missense_Mutation_p.L1803M|DMD_uc004ddb.1_Missense_Mutation_p.L1799M|DMD_uc010ngo.1_Intron NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 1807 Interaction with SYNM (By similarity). muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) TCCTCTTTCAGATTCACCCCC 0.358000 DMD 1756 broad.mit.edu 37 X 32583888 32583888 + Missense_Mutation SNP T T G TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chrX:32583888T>G uc004dda.1 - 16 2167 c.1923A>C c.(1921-1923)GAA>GAC p.E641D DMD_uc004dcz.2_Missense_Mutation_p.E518D|DMD_uc004dcy.1_Missense_Mutation_p.E637D|DMD_uc004ddb.1_Missense_Mutation_p.E633D|DMD_uc010ngo.1_Intron|DMD_uc004ddf.2_Missense_Mutation_p.E633D NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 641 Spectrin 3. muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) CCAGCCATGCTTCCGTCTTCT 0.403000 DGKK 139189 broad.mit.edu 37 X 50111946 50111946 + Missense_Mutation SNP T T G TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chrX:50111946T>G uc010njr.1 - 29 3869 c.3809A>C c.(3808-3810)CAA>CCA p.Q1270P NM_001013742 NP_001013764 Q5KSL6 DGKK_HUMAN diacylglycerol kinase kappa 1270 PDZ-binding. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding ovary(1)|kidney(1) 2 Ovarian(276;0.236) GGGCTACAGTTGAGATCTCGA 0.393000 MTMR8 55613 broad.mit.edu 37 X 63444310 63444310 + Missense_Mutation SNP C C T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chrX:63444310C>T uc011mou.1 - 11 2055 c.1987G>A c.(1987-1989)GTC>ATC p.V663I ASB12_uc004dvp.1_Missense_Mutation_p.V279I|ASB12_uc004dvq.1_Missense_Mutation_p.V288I|ASB12_uc004dvr.1_Missense_Mutation_p.V288I NM_017677 NP_060147 Q96EF0 MTMR8_HUMAN myotubularin related protein 8 Error:Variant_position_missing_in_Q96EF0_after_alignment nuclear envelope protein tyrosine phosphatase activity ovary(2)|breast(2) 4 GCTCTGCGGACGACTAAACGG 0.493000 AR 367 broad.mit.edu 37 X 66765645 66765645 + Silent SNP T T G TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chrX:66765645T>G uc004dwu.1 + 1 1772 c.657T>G c.(655-657)ACT>ACG p.T219T AR_uc011mpd.1_Silent_p.T219T|AR_uc011mpe.1_RNA|AR_uc011mpf.1_Silent_p.T219T NM_000044 NP_000035 P10275 ANDR_HUMAN androgen receptor isoform 1 217 Modulating. cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport cytoplasm|nuclear chromatin|nucleoplasm androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding ovary(3)|lung(2)|breast(2)|central_nervous_system(1) 8 all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102) all_lung(315;1.3e-11) Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624) GGGCTCCCACTTCCTCCAAGG 0.602000 Androgen_Insensitivity_Syndrome AR 367 broad.mit.edu 37 X 66766242 66766242 + Silent SNP T T A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chrX:66766242T>A uc004dwu.1 + 1 2369 c.1254T>A c.(1252-1254)GGT>GGA p.G418G AR_uc011mpd.1_Silent_p.G418G|AR_uc011mpe.1_RNA|AR_uc011mpf.1_Silent_p.G418G NM_000044 NP_000035 P10275 ANDR_HUMAN androgen receptor isoform 1 416 Modulating. cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport cytoplasm|nuclear chromatin|nucleoplasm androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding ovary(3)|lung(2)|breast(2)|central_nervous_system(1) 8 all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102) all_lung(315;1.3e-11) Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624) ATGGCGCGGGTGCAGCGGGAC 0.662000 Androgen_Insensitivity_Syndrome MED12 9968 broad.mit.edu 37 X 70361778 70361778 + Missense_Mutation SNP G G A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chrX:70361778G>A uc004dyy.2 + 44 6653 c.6454G>A c.(6454-6456)GCA>ACA p.A2152T NLGN3_uc010nlb.1_5'Flank|NLGN3_uc004dzb.2_5'Flank|NLGN3_uc004dzc.2_5'Flank|MED12_uc004dyz.2_Missense_Mutation_p.A2151T|MED12_uc004dza.2_Missense_Mutation_p.A2002T|MED12_uc010nla.2_Missense_Mutation_p.A781T NM_005120 NP_005111 Q93074 MED12_HUMAN mediator complex subunit 12 2152 Gln-rich. androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 4 Renal(35;0.156) GCAACAGACAGCAGCTTTGGT 0.542000 LPAR4 2846 broad.mit.edu 37 X 78011061 78011061 + Missense_Mutation SNP G G A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chrX:78011061G>A uc010nme.2 + 2 1100 c.695G>A c.(694-696)CGC>CAC p.R232H NM_005296 NP_005287 Q99677 LPAR4_HUMAN lysophosphatidic acid receptor 4 232 Cytoplasmic (Potential). integral to plasma membrane lipid binding|purinergic nucleotide receptor activity, G-protein coupled ovary(3) 3 AGAACTCTTCGCAAGCCTGCT 0.373000 GUCY2F 2986 broad.mit.edu 37 X 108635293 108635293 + Silent SNP T T C TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chrX:108635293T>C uc004eod.3 - 14 2904 c.2628A>G c.(2626-2628)GAA>GAG p.E876E GUCY2F_uc011msq.1_RNA NM_001522 NP_001513 P51841 GUC2F_HUMAN guanylate cyclase 2F precursor 876 Cytoplasmic (Potential). intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity lung(4)|breast(3)|central_nervous_system(1) 8 AGCCCTCAGGTTCAACTGTGC 0.488000 UTP14A 10813 broad.mit.edu 37 X 129060230 129060230 + Missense_Mutation SNP C C T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chrX:129060230C>T uc004euz.2 + 14 1986 c.1958C>T c.(1957-1959)GCC>GTC p.A653V UTP14A_uc011mup.1_Missense_Mutation_p.A601V|UTP14A_uc011muq.1_Missense_Mutation_p.A599V NM_006649 NP_006640 Q9BVJ6 UT14A_HUMAN UTP14, U3 small nucleolar ribonucleoprotein, 653 rRNA processing nucleolus|small-subunit processome protein binding ovary(2) 2 CTCATTAAAGCCCCTGAGGGT 0.473000 OREG0019920 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) MAGEC3 139081 broad.mit.edu 37 X 140953351 140953351 + Missense_Mutation SNP A A T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chrX:140953351A>T uc011mwp.1 + 2 218 c.218A>T c.(217-219)CAG>CTG p.Q73L NM_138702 NP_619647 Q8TD91 MAGC3_HUMAN melanoma antigen family C, 3 isoform 1 73 skin(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) ACTTCAGATCAGCGAATGGAT 0.502000 GPR50 9248 broad.mit.edu 37 X 150349823 150349823 + Missense_Mutation SNP C C A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chrX:150349823C>A uc010ntg.1 + 2 1903 c.1768C>A c.(1768-1770)CCT>ACT p.P590T NM_004224 NP_004215 Q13585 MTR1L_HUMAN G protein-coupled receptor 50 590 Cytoplasmic (Potential).|Pro-rich. cell-cell signaling integral to plasma membrane melatonin receptor activity large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) CCTTCCTGACCCTACTGTAGT 0.532000 GABRA3 2556 broad.mit.edu 37 X 151358276 151358276 + Missense_Mutation SNP C C A TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chrX:151358276C>A uc010ntk.1 - 9 1309 c.1069G>T c.(1069-1071)GCC>TCC p.A357S NM_000808 NP_000799 P34903 GBRA3_HUMAN gamma-aminobutyric acid A receptor, alpha 3 357 Helical; (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding ovary(1) 1 Acute lymphoblastic leukemia(192;6.56e-05) Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TTGACAGTGGCAAATTCAATC 0.473000 MAGEA6 4105 broad.mit.edu 37 X 151869654 151869654 + Missense_Mutation SNP A A T TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chrX:151869654A>T uc004ffq.1 + 3 538 c.344A>T c.(343-345)AAG>ATG p.K115M MAGEA6_uc004ffr.1_Missense_Mutation_p.K115M|MAGEA2_uc010nto.2_Intron NM_005363 NP_005354 P43360 MAGA6_HUMAN melanoma antigen family A, 6 115 MAGE. protein binding 0 Acute lymphoblastic leukemia(192;6.56e-05) AAGGTGGCCAAGTTGGTTCAT 0.532000 F8 2157 broad.mit.edu 37 X 154225313 154225313 + Missense_Mutation SNP T T G rs137852384 TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chrX:154225313T>G uc004fmt.2 - 3 494 c.323A>C c.(322-324)AAG>ACG p.K108T F8_uc011mzx.1_Missense_Mutation_p.K73T NM_000132 NP_000123 P00451 FA8_HUMAN coagulation factor VIII isoform a precursor 108 Plastocyanin-like 1.|F5/8 type A 1. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 11 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) AGCCATGTTCTTAAGTGTAAT 0.453000 TTN 7273 broad.mit.edu 37 2 179486701 179486702 + Frame_Shift_Del DEL TT TT - TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr2:179486701_179486702delTT uc010zfg.1 - 193 37467_37468 c.37243_37244delAA c.(37243-37245)AAGfs p.K12415fs TTN_uc010zfh.1_Frame_Shift_Del_p.K6110fs|TTN_uc010zfi.1_Frame_Shift_Del_p.K6043fs|TTN_uc010zfj.1_Frame_Shift_Del_p.K5918fs NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 13342 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) TTTTTTGCCCTTTTTAATTTCA 0.347 PARD3B 117583 broad.mit.edu 37 2 206165334 206165335 + Frame_Shift_Ins INS - - GA TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr2:206165333_206165334C>CGA uc002var.2 + 16 2472_2473 c.2265_2266C>CGA c.(2263-2268)gccgagfs p.A755fs PARD3B_uc010fub.2_Frame_Shift_Ins_p.A755fs|PARD3B_uc002vao.2_Frame_Shift_Ins_p.A755fs|PARD3B_uc002vap.2_Frame_Shift_Ins_p.A693fs|PARD3B_uc002vaq.2_Intron NM_205863 NP_689739 Q8TEW8 PAR3L_HUMAN Homo sapiens par-3 partitioning defective 3 homolog B (C. elegans) (PARD3B), mRNA. 755 cell cycle|cell division endomembrane system|tight junction breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4) 65 all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06) Epithelial(149;0.0739) CTGCAGTGGCCGAGGTCAGGAA 0.515 UGT2B28 54490 broad.mit.edu 37 4 70146542 70146543 + Frame_Shift_Ins INS - - G TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr4:70146541_70146542A>AG uc003hej.3 + 0 325_326 c.323_324A>AG c.(322-324)tatfs p.Y108fs UGT2B28_uc010ihr.3_Frame_Shift_Ins_p.Y108fs NM_053039 NP_444267 Q9BY64 UDB28_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B28 (UGT2B28), transcript variant 1, mRNA. 108 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity p.L107_Y108>FH(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 31 Flunitrazepam(DB01544) TTTTGGTTATATTTTTCACAAG 0.292 FILIP1 27145 broad.mit.edu 37 6 76022220 76022222 + In_Frame_Del DEL GAA GAA - TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr6:76022219_76022221CGAA>C uc010kbe.3 - 5 3866_3868 c.3336_3338TTCG>G c.(3334-3339)cttcgc>ctGc p.R1113del FILIP1_uc003phy.1_In_Frame_Del_p.R1110del|FILIP1_uc003phz.3_In_Frame_Del_p.R1011del|FILIP1_uc003pia.3_In_Frame_Del_p.R1110del|FILIP1_uc003pib.1_In_Frame_Del_p.R862del NM_015687 NP_056502 Q7Z7B0 FLIP1_HUMAN Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA. 1110 breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4) 80 CCTGGGAGAGCGAAGGACAGTGC 0.552 TRMT11 60487 broad.mit.edu 37 6 126329563 126329563 + Frame_Shift_Del DEL T T - TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr6:126329562_126329562AT>A uc003qam.3 + 7 825 c.704_704AT>A c.(703-705)catfs p.H235fs TRMT11_uc003qan.3_Non-coding_Transcript|TRMT11_uc010kev.3_Frame_Shift_Del_p.H235fs NM_001031712 NP_001026882 Q7Z4G4 TRM11_HUMAN Homo sapiens tRNA methyltransferase 11 homolog (S. cerevisiae) (TRMT11), mRNA. 235 tRNA processing methyltransferase activity|nucleic acid binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 GBM - Glioblastoma multiforme(226;0.0356) GCATGTGCTCATTTTGGTGCA 0.413 NEK8 284086 broad.mit.edu 37 17 27068496 27068497 + Frame_Shift_Ins INS - - G TCGA-BR-8690-01A-11D-2394-08 TCGA-BR-8690-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx edc8839f-fa6b-41e0-ad49-f688073730bd 3e7926eb-67ff-43c6-a3be-7a3cc78d03c2 g.chr17:27068495_27068496C>CG uc002hcp.3 + 13 1956_1957 c.1956_1957C>CG c.(1954-1959)gccggafs p.A652fs TRAF4_uc002hcq.1_5'Flank|TRAF4_uc002hcs.3_5'Flank NM_178170 NP_835464 Q86SG6 NEK8_HUMAN Homo sapiens NIMA (never in mitosis gene a)- related kinase 8 (NEK8), mRNA. 652 cytoplasm|primary cilium ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Lung NSC(42;0.0158) ATGAGGATGCCGGACTCCCTCG 0.579