Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox isArtifactMode oxoGCut NBPF1 55672 broad.mit.edu 37 1 16907249 16907249 + Missense_Mutation SNP T T C TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr1:16907249T>C uc009vos.1 - 16 2470 c.1582A>G c.(1582-1584)ATT>GTT p.I528V NBPF1_uc009vot.1_Intron|NBPF1_uc001ayz.1_Intron|NBPF1_uc010oce.1_Missense_Mutation_p.I257V NM_017940 NP_060410 Q3BBV0 NBPF1_HUMAN hypothetical protein LOC55672 528 NBPF 2. cytoplasm 0 UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) CCTGGGAGAATGTTTACAGCA 0.423 NA 17 649 0 0 0 0 IQCC 55721 broad.mit.edu 37 1 32673134 32673134 + Silent SNP G G A TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr1:32673134G>A uc001bum.2 + 5 899 c.852G>A c.(850-852)CCG>CCA p.P284P IQCC_uc009vua.2_Silent_p.P364P|IQCC_uc010ogz.1_Silent_p.P184P|DCDC2B_uc001bun.2_5'Flank NM_018134 NP_060604 Q4KMZ1 IQCC_HUMAN IQ motif containing C isoform 2 284 ovary(4) 4 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) CTGGACCACCGTCGTCTATAC 0.537 NA 10 57 0 0 0 0 OSCP1 127700 broad.mit.edu 37 1 36909632 36909632 + Missense_Mutation SNP C C T TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr1:36909632C>T uc001cap.2 - 2 197 c.115G>A c.(115-117)GAA>AAA p.E39K OSCP1_uc001caq.2_Intron|OSCP1_uc001car.2_Intron NM_145047 NP_659484 Q8WVF1 OSCP1_HUMAN oxidored-nitro domain-containing protein isoform 39 transport basal plasma membrane ovary(2)|central_nervous_system(1)|pancreas(1) 4 TCTGTCCATTCATCTACATGA 0.418 NA 10 129 0 0 0 0 GLIS1 148979 broad.mit.edu 37 1 54060498 54060498 + Silent SNP G G A TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr1:54060498G>A uc001cvr.1 - 3 645 c.78C>T c.(76-78)CTC>CTT p.L26L NM_147193 NP_671726 Q8NBF1 GLIS1_HUMAN GLIS family zinc finger 1 26 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding skin(1) 1 TTCGGCCCGGGAGGTCCAGGT 0.706 NA 3 11 0 0 0 0 LRIG2 9860 broad.mit.edu 37 1 113657399 113657399 + Missense_Mutation SNP A A G TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr1:113657399A>G uc001edf.1 + 15 2629 c.2431A>G c.(2431-2433)ATT>GTT p.I811V LRIG2_uc009wgn.1_Missense_Mutation_p.I708V NM_014813 NP_055628 O94898 LRIG2_HUMAN leucine-rich repeats and immunoglobulin-like 811 Helical; (Potential). cytoplasm|integral to membrane|plasma membrane ovary(3) 3 Lung SC(450;0.246) all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986) Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15) CATTGTCATCATTGTTGTGGT 0.423 NA 14 95 0 0 0 0 TTF2 8458 broad.mit.edu 37 1 117644143 117644143 + Silent SNP C C T TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr1:117644143C>T uc001egy.2 + 23 3506 c.3486C>T c.(3484-3486)ATC>ATT p.I1162I NM_003594 NP_003585 Q9UNY4 TTF2_HUMAN transcription termination factor, RNA polymerase 1162 mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription cytoplasm|spliceosomal complex|transcription elongation factor complex ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding ovary(1) 1 Lung SC(450;0.225) all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05) Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19) TTTTTGGCATCTAACCTCCTG 0.443 NA 22 201 0 0 0 0 HIST2H2BF 440689 broad.mit.edu 37 1 149783657 149783657 + Missense_Mutation SNP G G C TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr1:149783657G>C uc001esr.2 - 1 272 c.222C>G c.(220-222)ATC>ATG p.I74M HIST2H2BF_uc010pbj.1_Missense_Mutation_p.I74M|HIST2H2BF_uc010pbk.1_Missense_Mutation_p.I74M NM_001024599 NP_001019770 Q5QNW6 H2B2F_HUMAN histone cluster 2, H2bf isoform a 74 nucleosome assembly nucleosome|nucleus DNA binding 0 Breast(34;0.0124)|all_hematologic(923;0.127) CCTCTCCCGCGATGCGCTCGA 0.642 NA 6 124 0 0 0 0 ANXA9 8416 broad.mit.edu 37 1 150956843 150956843 + Silent SNP C C T rs150030788 TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr1:150956843C>T uc001ewa.2 + 6 824 c.354C>T c.(352-354)GAC>GAT p.D118D NM_003568 NP_003559 O76027 ANXA9_HUMAN annexin A9 118 Annexin 2. cell-cell adhesion cell surface|cytosol acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity 0 all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) CCCAGTTTGACGCCCAGGAAT 0.552 NA 8 115 0 0 0 0 SH2D2A 9047 broad.mit.edu 37 1 156779022 156779022 + Silent SNP G G A TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr1:156779022G>A uc001fqd.2 - 7 1115 c.975C>T c.(973-975)AGC>AGT p.S325S SH2D2A_uc001fqc.1_Silent_p.S297S|SH2D2A_uc009wsh.2_Silent_p.S335S|SH2D2A_uc001fqe.2_Silent_p.S307S|SH2D2A_uc010phs.1_Silent_p.S325S NM_003975 NP_003966 Q9NP31 SH22A_HUMAN SH2 domain protein 2A isoform 2 325 Pro-rich. angiogenesis|cell differentiation|signal transduction cytoplasm|soluble fraction SH3 domain binding|SH3/SH2 adaptor activity 0 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) GCCTGGACCAGCTCTTCCGTA 0.612 NA 17 226 0 0 0 0 OR2T6 254879 broad.mit.edu 37 1 248551279 248551279 + Missense_Mutation SNP G G A TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr1:248551279G>A uc001iei.1 + 1 370 c.370G>A c.(370-372)GTG>ATG p.V124M NM_001005471 NP_001005471 Q8NHC8 OR2T6_HUMAN olfactory receptor, family 2, subfamily T, 124 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TGACCGCTACGTGGCCATCTG 0.567 NA 10 68 0 0 0 0 CACNB2 783 broad.mit.edu 37 10 18827254 18827254 + Nonsense_Mutation SNP C C G TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr10:18827254C>G uc001ipr.2 + 13 1508 c.1448C>G c.(1447-1449)TCA>TGA p.S483* CACNB2_uc009xjz.1_Nonsense_Mutation_p.S233*|CACNB2_uc001ips.2_Nonsense_Mutation_p.S459*|CACNB2_uc001ipt.2_Nonsense_Mutation_p.S445*|CACNB2_uc001ipu.2_Nonsense_Mutation_p.S455*|CACNB2_uc001ipv.2_Nonsense_Mutation_p.S431*|CACNB2_uc009xka.1_Nonsense_Mutation_p.S417*|CACNB2_uc001ipw.2_Nonsense_Mutation_p.S390*|CACNB2_uc001ipx.2_Nonsense_Mutation_p.S428*|CACNB2_uc001ipz.2_Nonsense_Mutation_p.S405*|CACNB2_uc001ipy.2_Nonsense_Mutation_p.S429*|CACNB2_uc010qco.1_Nonsense_Mutation_p.S397*|CACNB2_uc001iqa.2_Nonsense_Mutation_p.S435*|NSUN6_uc001iqb.2_Intron NM_201596 NP_963890 Q08289 CACB2_HUMAN calcium channel, voltage-dependent, beta 2 483 axon guidance|neuromuscular junction development integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity large_intestine(1)|central_nervous_system(1)|skin(1) 3 Magnesium Sulfate(DB00653)|Verapamil(DB00661) TTAGCCACTTCAAGTCTGCCT 0.478 NA 9 266 0 0 0 0 GPR158 57512 broad.mit.edu 37 10 25887142 25887142 + Missense_Mutation SNP G G C TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr10:25887142G>C uc001isj.2 + 11 2647 c.2587G>C c.(2587-2589)GAA>CAA p.E863Q GPR158_uc001isk.2_Missense_Mutation_p.E238Q NM_020752 NP_065803 Q5T848 GP158_HUMAN G protein-coupled receptor 158 precursor 863 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(4)|large_intestine(2)|pancreas(1)|skin(1) 8 AAAACTAAAAGAAGACAGCGA 0.507 NA 5 144 0 0 0 0 ARMC4 55130 broad.mit.edu 37 10 28229719 28229719 + Missense_Mutation SNP A A T TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr10:28229719A>T uc009xky.2 - 13 1857 c.1759T>A c.(1759-1761)TGT>AGT p.C587S ARMC4_uc010qds.1_Missense_Mutation_p.C112S|ARMC4_uc010qdt.1_Missense_Mutation_p.C279S|ARMC4_uc001itz.2_Missense_Mutation_p.C587S|ARMC4_uc010qdu.1_Missense_Mutation_p.C279S NM_018076 NP_060546 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 587 binding ovary(4)|skin(2) 6 TCATGTGCACAGTCTAGTAGA 0.443 NA 6 66 0 0 0 0 NRP1 8829 broad.mit.edu 37 10 33502550 33502550 + Missense_Mutation SNP C C G TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr10:33502550C>G uc001iwx.3 - 9 1901 c.1378G>C c.(1378-1380)GAA>CAA p.E460Q NRP1_uc001iwv.3_Missense_Mutation_p.E460Q|NRP1_uc009xlz.2_Missense_Mutation_p.E460Q|NRP1_uc001iww.3_Missense_Mutation_p.E279Q|NRP1_uc001iwy.3_Missense_Mutation_p.E460Q|NRP1_uc001iwz.2_Missense_Mutation_p.E460Q|NRP1_uc001ixa.2_Missense_Mutation_p.E460Q|NRP1_uc001ixb.1_Missense_Mutation_p.E460Q|NRP1_uc001ixc.1_Missense_Mutation_p.E460Q NM_003873 NP_003864 O14786 NRP1_HUMAN neuropilin 1 isoform a 460 Extracellular (Potential).|F5/8 type C 2. axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation extracellular region|integral to membrane|plasma membrane growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity central_nervous_system(2)|ovary(1)|skin(1) 4 Palifermin(DB00039)|Pegaptanib(DB04895) CGGATGTTTTCAGGCATCCAG 0.517 NA 11 136 0 0 0 0 RHOBTB1 9886 broad.mit.edu 37 10 62631978 62631978 + Missense_Mutation SNP G G C rs148172627 TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr10:62631978G>C uc001jli.2 - 11 2324 c.1886C>G c.(1885-1887)TCC>TGC p.S629C RHOBTB1_uc001jlh.2_Missense_Mutation_p.S629C|RHOBTB1_uc001jlj.2_Missense_Mutation_p.S629C|RHOBTB1_uc001jlk.2_Missense_Mutation_p.S629C|RHOBTB1_uc009xpe.1_Missense_Mutation_p.S567C|RHOBTB1_uc009xpd.2_Intron|RHOBTB1_uc001jll.2_Missense_Mutation_p.S379C NM_014836 NP_055651 O94844 RHBT1_HUMAN Rho-related BTB domain containing 1 629 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane GTP binding upper_aerodigestive_tract(1) 1 Prostate(12;0.0112) ACGGAACTTGGAGCATACACT 0.483 NA 5 115 0 0 0 0 RUFY2 55680 broad.mit.edu 37 10 70156542 70156542 + Silent SNP G G A TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr10:70156542G>A uc001job.2 - 4 825 c.498C>T c.(496-498)CTC>CTT p.L166L RUFY2_uc001jnz.1_RNA|RUFY2_uc001joc.2_Intron|RUFY2_uc010qiw.1_Silent_p.L73L|RUFY2_uc001jod.1_Silent_p.L131L|RUFY2_uc009xpv.1_Silent_p.L14L|RUFY2_uc001joe.1_Silent_p.L131L NM_017987 NP_060457 Q8WXA3 RUFY2_HUMAN RUN and FYVE domain-containing 2 isoform a 180 RUN. nucleus metal ion binding ovary(1) 1 CTAACCTCAAGAGATCCCTCT 0.353 NA 6 41 0 0 0 0 VCL 7414 broad.mit.edu 37 10 75855416 75855416 + Missense_Mutation SNP C C G TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr10:75855416C>G uc001jwd.2 + 12 1640 c.1546C>G c.(1546-1548)CAG>GAG p.Q516E VCL_uc009xrr.2_Missense_Mutation_p.Q265E|VCL_uc010qky.1_Missense_Mutation_p.Q423E|VCL_uc001jwe.2_Missense_Mutation_p.Q516E|VCL_uc010qkz.1_Intron NM_014000 NP_054706 P18206 VINC_HUMAN vinculin isoform meta-VCL 516 N-terminal globular head.|3.|3 X 112 AA tandem repeats. adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface costamere|cytosol|extracellular region|focal adhesion actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity VCL/ALK(4) kidney(4)|ovary(1)|central_nervous_system(1) 6 Prostate(51;0.0112) TGGTCCAGGTCAGGCTGCCAT 0.478 NA 4 88 0 0 0 0 LGI1 9211 broad.mit.edu 37 10 95556810 95556810 + Missense_Mutation SNP C C G TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr10:95556810C>G uc001kjc.3 + 8 1260 c.924C>G c.(922-924)ATC>ATG p.I308M LGI1_uc010qnv.1_Missense_Mutation_p.I260M|LGI1_uc001kjd.3_Intron|LGI1_uc009xui.2_RNA|LGI1_uc001kje.2_Intron NM_005097 NP_005088 O95970 LGI1_HUMAN leucine-rich, glioma inactivated 1 precursor 308 EAR 2. axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission cell junction|extracellular space|synapse receptor binding ovary(2)|central_nervous_system(1)|skin(1) 4 Colorectal(252;0.124) GCTCTCACATCTATAAGCGAG 0.373 NA 4 77 0 0 0 0 PDCD11 22984 broad.mit.edu 37 10 105203734 105203734 + Missense_Mutation SNP C C G TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr10:105203734C>G uc001kwy.1 + 34 5274 c.5187C>G c.(5185-5187)ATC>ATG p.I1729M NM_014976 NP_055791 Q14690 RRP5_HUMAN programmed cell death 11 1729 HAT 2. mRNA processing|rRNA processing nucleolus RNA binding|transcription factor binding ovary(2)|breast(2)|skin(2)|central_nervous_system(1) 7 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208) CTGTGTGGATCAAATACGGCG 0.597 NA 9 94 0 0 0 0 ACSL5 51703 broad.mit.edu 37 10 114169340 114169340 + Missense_Mutation SNP C C T TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr10:114169340C>T uc001kzs.2 + 7 749 c.608C>T c.(607-609)ACC>ATC p.T203I ACSL5_uc001kzt.2_Missense_Mutation_p.T203I|ACSL5_uc001kzu.2_Missense_Mutation_p.T259I|ACSL5_uc009xxz.2_Missense_Mutation_p.T203I|ACSL5_uc010qrj.1_5'UTR NM_203379 NP_976313 Q9ULC5 ACSL5_HUMAN acyl-CoA synthetase long-chain family member 5 203 Cytoplasmic (Potential). fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane ATP binding|long-chain fatty acid-CoA ligase activity large_intestine(2)|skin(1) 3 Colorectal(252;0.117)|Breast(234;0.222) Epithelial(162;0.0343)|all cancers(201;0.137) AAAGGCTTCACCCCGAGCCTG 0.478 NA 16 118 0 0 0 0 PRLHR 2834 broad.mit.edu 37 10 120353832 120353832 + Missense_Mutation SNP C C T TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr10:120353832C>T uc001ldp.1 - 2 1064 c.925G>A c.(925-927)GAC>AAC p.D309N NM_004248 NP_004239 P49683 PRLHR_HUMAN G protein-coupled receptor 10 309 Extracellular (Potential). female pregnancy integral to plasma membrane neuropeptide Y receptor activity 0 Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175) all cancers(201;0.0166) GCGTAAGGGTCGATGGCGTGG 0.632 NA 5 69 0 0 0 0 GRK5 2869 broad.mit.edu 37 10 121207689 121207689 + Missense_Mutation SNP G G A TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr10:121207689G>A uc001led.2 + 13 1554 c.1321G>A c.(1321-1323)GAG>AAG p.E441K GRK5_uc009xzh.2_Missense_Mutation_p.E306K NM_005308 NP_005299 P34947 GRK5_HUMAN G protein-coupled receptor kinase 5 441 Protein kinase. G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway cytoplasm|plasma membrane|soluble fraction ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity lung(2)|stomach(1) 3 Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249) all cancers(201;0.0227) GGGGGCTGCAGAGGTCAAGAG 0.597 NA 21 116 0 0 0 0 OR51G2 81282 broad.mit.edu 37 11 4936270 4936270 + Silent SNP G G A TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr11:4936270G>A uc001lzr.1 - 1 624 c.624C>T c.(622-624)ATC>ATT p.I208I NM_001005238 NP_001005238 Q8NGK0 O51G2_HUMAN olfactory receptor, family 51, subfamily G, 208 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) CTGTAGAGACGATGACAAACA 0.512 NA 4 33 0 0 0 0 CYP2R1 120227 broad.mit.edu 37 11 14899669 14899669 + Nonstop_Mutation SNP C C A TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr11:14899669C>A uc001mlr.2 - 5 1505 c.1505G>T c.(1504-1506)TGA>TTA p.*502L CYP2R1_uc001mlo.2_Nonstop_Mutation_p.*269L|CYP2R1_uc001mlp.2_Nonstop_Mutation_p.*385L|CYP2R1_uc001mlq.2_RNA NM_024514 NP_078790 Q6VVX0 CP2R1_HUMAN cytochrome P450, family 2, subfamily R, 502 hormone biosynthetic process|vitamin D metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding|vitamin D3 25-hydroxylase activity ovary(1)|central_nervous_system(1) 2 Cholecalciferol(DB00169)|Ergocalciferol(DB00153) CAGGCAGTTTCAGCGTCTTTC 0.418 NA 9 89 0.000442599 0.00164627 1 0 CYP2R1 120227 broad.mit.edu 37 11 14900748 14900748 + Missense_Mutation SNP C C A TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr11:14900748C>A uc001mlr.2 - 4 1242 c.1242G>T c.(1240-1242)TGG>TGT p.W414C CYP2R1_uc001mlo.2_Missense_Mutation_p.W181C|CYP2R1_uc001mlp.2_Missense_Mutation_p.W297C|CYP2R1_uc001mlq.2_RNA NM_024514 NP_078790 Q6VVX0 CP2R1_HUMAN cytochrome P450, family 2, subfamily R, 414 hormone biosynthetic process|vitamin D metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding|vitamin D3 25-hydroxylase activity ovary(1)|central_nervous_system(1) 2 Cholecalciferol(DB00169)|Ergocalciferol(DB00153) CTGGGTCTCTCCAGTACTTTT 0.408 NA 5 53 0.000602214 0.00222735 1 0 OR5AR1 219493 broad.mit.edu 37 11 56431616 56431616 + Missense_Mutation SNP G G A TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr11:56431616G>A uc010rjm.1 + 1 455 c.455G>A c.(454-456)GGT>GAT p.G152D NM_001004730 NP_001004730 Q8NGP9 O5AR1_HUMAN olfactory receptor, family 5, subfamily AR, 152 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TACCTGGCTGGTCTAGTGAGT 0.502 NA 13 161 0 0 0 0 CTNND1 1500 broad.mit.edu 37 11 57578934 57578934 + Missense_Mutation SNP C C T TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr11:57578934C>T uc001nmc.3 + 17 3185 c.2614C>T c.(2614-2616)CTC>TTC p.L872F CTNND1_uc001nlh.1_Missense_Mutation_p.L872F|CTNND1_uc001nlu.3_Missense_Mutation_p.L765F|CTNND1_uc001nlt.3_Missense_Mutation_p.L765F|CTNND1_uc001nls.3_Missense_Mutation_p.L765F|CTNND1_uc001nlw.3_Missense_Mutation_p.L765F|CTNND1_uc001nmf.3_Missense_Mutation_p.L872F|CTNND1_uc001nmd.3_Missense_Mutation_p.L818F|CTNND1_uc001nlk.3_Missense_Mutation_p.L818F|CTNND1_uc001nme.3_Missense_Mutation_p.L866F|CTNND1_uc001nll.3_Missense_Mutation_p.L812F|CTNND1_uc001nmg.3_Missense_Mutation_p.L812F|CTNND1_uc001nlj.3_Missense_Mutation_p.L812F|CTNND1_uc001nlr.3_Missense_Mutation_p.L812F|CTNND1_uc001nlp.3_Missense_Mutation_p.L812F|CTNND1_uc001nlx.3_Missense_Mutation_p.L549F|CTNND1_uc001nlz.3_Missense_Mutation_p.L549F|CTNND1_uc009ymn.2_Missense_Mutation_p.L543F|CTNND1_uc001nlm.3_Missense_Mutation_p.L866F|CTNND1_uc001nly.3_Missense_Mutation_p.L543F|CTNND1_uc001nmb.3_Missense_Mutation_p.L543F|CTNND1_uc001nma.3_Missense_Mutation_p.L543F|CTNND1_uc001nmi.3_Missense_Mutation_p.L771F|CTNND1_uc001nmh.3_Missense_Mutation_p.L866F|CTNND1_uc001nlq.3_Missense_Mutation_p.L771F|CTNND1_uc001nln.3_Missense_Mutation_p.L866F|CTNND1_uc001nli.3_Missense_Mutation_p.L866F|CTNND1_uc001nlo.3_Missense_Mutation_p.L765F|CTNND1_uc001nlv.3_Missense_Mutation_p.L765F NM_001085458 NP_001078927 O60716 CTND1_HUMAN catenin, delta 1 isoform 1ABC 872 adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway cytosol|midbody|nucleus cadherin binding|protein binding|receptor binding breast(4)|ovary(1)|kidney(1) 6 all_epithelial(135;0.155) TACTCTCCCTCTCATTGACCG 0.438 NA 8 158 0 0 0 0 C11orf9 745 broad.mit.edu 37 11 61551813 61551813 + Missense_Mutation SNP G G C TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr11:61551813G>C uc001nsc.1 + 25 3352 c.3256G>C c.(3256-3258)GAG>CAG p.E1086Q C11orf9_uc001nse.1_Missense_Mutation_p.E1046Q|C11orf9_uc010rll.1_Missense_Mutation_p.E472Q NM_001127392 NP_001120864 Q9Y2G1 MRF_HUMAN myelin gene regulatory factor isoform 2 1086 central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent integral to membrane|nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1) 1 ACCATGTGAGGAGGGGAGCCT 0.622 NA 4 50 0 0 0 0 CD248 57124 broad.mit.edu 37 11 66083138 66083138 + Missense_Mutation SNP G G C TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr11:66083138G>C uc001ohm.1 - 1 1378 c.1361C>G c.(1360-1362)TCT>TGT p.S454C NM_020404 NP_065137 Q9HCU0 CD248_HUMAN tumor endothelial marker 1 precursor 454 Pro-rich.|Extracellular (Potential). integral to membrane|proteinaceous extracellular matrix calcium ion binding|sugar binding large_intestine(3) 3 Cefalotin(DB00456) ATGCGTGGCAGAGACCACCAC 0.667 NA 7 106 0 0 0 0 RSF1 51773 broad.mit.edu 37 11 77412118 77412118 + Missense_Mutation SNP G G A TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr11:77412118G>A uc001oyn.2 - 6 2276 c.2156C>T c.(2155-2157)TCA>TTA p.S719L RSF1_uc001oym.2_Missense_Mutation_p.S467L NM_016578 NP_057662 Q96T23 RSF1_HUMAN remodeling and spacing factor 1 719 CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent RSF complex histone binding|protein binding|zinc ion binding ovary(2)|central_nervous_system(2) 4 all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152) Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31) TGTATTTTCTGAGGCAGTGGT 0.428 NA 6 110 0 0 0 0 RSF1 51773 broad.mit.edu 37 11 77412372 77412372 + Missense_Mutation SNP G G C TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr11:77412372G>C uc001oyn.2 - 6 2022 c.1902C>G c.(1900-1902)ATC>ATG p.I634M RSF1_uc001oym.2_Missense_Mutation_p.I382M NM_016578 NP_057662 Q96T23 RSF1_HUMAN remodeling and spacing factor 1 634 CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent RSF complex histone binding|protein binding|zinc ion binding ovary(2)|central_nervous_system(2) 4 all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152) Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31) AGTGGTCAATGATATTAGATG 0.428 NA 8 106 0 0 0 0 MMP12 4321 broad.mit.edu 37 11 102734890 102734890 + Missense_Mutation SNP G G C TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr11:102734890G>C uc001phk.2 - 10 1344 c.1299C>G c.(1297-1299)TTC>TTG p.F433L NM_002426 NP_002417 P39900 MMP12_HUMAN matrix metalloproteinase 12 preproprotein 433 Hemopexin-like 4. positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding 0 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.014) Acetohydroxamic Acid(DB00551) TTTTAGAGTAGAAGACTGCAT 0.383 NA 3 38 0 0 0 0 MLL 4297 broad.mit.edu 37 11 118374023 118374023 + Missense_Mutation SNP G G C TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr11:118374023G>C uc001pta.2 + 27 7430 c.7407G>C c.(7405-7407)TTG>TTC p.L2469F MLL_uc001ptb.2_Missense_Mutation_p.L2472F NM_005933 NP_005924 Q03164 MLL1_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2469 apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter MLL1 complex AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1) 25 all_hematologic(175;0.046) all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244) OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144) ATGAGGTTTTGACTCCTGAGT 0.433 NA T|O MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB AML|ALL 5 68 0 0 0 0 MLL 4297 broad.mit.edu 37 11 118374030 118374030 + Missense_Mutation SNP G G A TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr11:118374030G>A uc001pta.2 + 27 7437 c.7414G>A c.(7414-7416)GAG>AAG p.E2472K MLL_uc001ptb.2_Missense_Mutation_p.E2475K NM_005933 NP_005924 Q03164 MLL1_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2472 apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter MLL1 complex AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1) 25 all_hematologic(175;0.046) all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244) OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144) TTTGACTCCTGAGTATATGGG 0.438 NA T|O MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB AML|ALL 5 67 0 0 0 0 OR8G2 26492 broad.mit.edu 37 11 124095773 124095773 + Missense_Mutation SNP C C T TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr11:124095773C>T uc010saf.1 + 1 376 c.376C>T c.(376-378)CAC>TAC p.H126Y NM_001007249 NP_001007250 Q15614 OR8G2_HUMAN olfactory receptor, family 8, subfamily G, 126 integral to membrane olfactory receptor activity 0 Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528) TGCAGAGTGTCACATGTTGGC 0.458 NA 18 198 0 0 0 0 SLCO1C1 53919 broad.mit.edu 37 12 20876121 20876121 + Silent SNP G G A TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr12:20876121G>A uc001rej.3 + 10 1474 c.1119G>A c.(1117-1119)GTG>GTA p.V373V SLCO1C1_uc010sii.1_Silent_p.V373V|SLCO1C1_uc010sij.1_Silent_p.V324V|SLCO1C1_uc009zip.2_Silent_p.V207V|SLCO1C1_uc001rei.2_Silent_p.V373V|SLCO1C1_uc010sik.1_Silent_p.V255V NM_017435 NP_059131 Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, 373 Extracellular (Potential). sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity ovary(5)|pancreas(1)|skin(1) 7 Esophageal squamous(101;0.149) TCGGCATGGTGACGTACAAAC 0.423 NA 7 81 0 0 0 0 C12orf35 55196 broad.mit.edu 37 12 32135621 32135621 + Missense_Mutation SNP C C G TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr12:32135621C>G uc001rks.2 + 4 2146 c.1732C>G c.(1732-1734)CAA>GAA p.Q578E NM_018169 NP_060639 Q9HCM1 CL035_HUMAN hypothetical protein LOC55196 578 ovary(1)|skin(1) 2 all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) OV - Ovarian serous cystadenocarcinoma(6;0.0114) ATCAAAAATTCAAAATGAAAA 0.348 NA 5 31 0 0 0 0 NCKAP1L 3071 broad.mit.edu 37 12 54910753 54910753 + Missense_Mutation SNP G G A TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr12:54910753G>A uc001sgc.3 + 11 1151 c.1072G>A c.(1072-1074)GAA>AAA p.E358K NCKAP1L_uc010sox.1_5'UTR|NCKAP1L_uc010soy.1_Missense_Mutation_p.E308K NM_005337 NP_005328 P55160 NCKPL_HUMAN NCK-associated protein 1-like 358 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity ovary(3)|central_nervous_system(1) 4 GTTGGCTGATGAACCGGGACT 0.507 NA 9 88 0 0 0 0 TRHDE 29953 broad.mit.edu 37 12 72667122 72667122 + Silent SNP G G A TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr12:72667122G>A uc001sxa.2 + 1 594 c.564G>A c.(562-564)GCG>GCA p.A188A LOC283392_uc010stv.1_5'UTR NM_013381 NP_037513 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 188 Extracellular (Potential). cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding ovary(2)|skin(1) 3 CCCGAGTGGCGGTGGAGAAAG 0.627 NA 10 65 0 0 0 0 SLC5A8 160728 broad.mit.edu 37 12 101555757 101555757 + Missense_Mutation SNP G G A rs142965122 TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr12:101555757G>A uc001thz.3 - 13 2015 c.1625C>T c.(1624-1626)TCA>TTA p.S542L NM_145913 NP_666018 Q8N695 SC5A8_HUMAN solute carrier family 5 (iodide transporter), 542 Cytoplasmic (Potential). apoptosis|sodium ion transport apical plasma membrane|integral to membrane monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity 0 GTTACCTGTTGATAAACTGAC 0.313 NA 6 178 0 0 0 0 ASCL1 429 broad.mit.edu 37 12 103352547 103352547 + Silent SNP C C T TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr12:103352547C>T uc001tjr.3 + 1 1096 c.525C>T c.(523-525)GAC>GAT p.D175D NM_004316 NP_004307 P50553 ASCL1_HUMAN achaete-scute complex homolog 1 175 cerebral cortex GABAergic interneuron differentiation|negative regulation of apoptosis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|noradrenergic neuron fate commitment|Notch signaling pathway|positive regulation of neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|response to retinoic acid|sympathetic nervous system development nucleus bHLH transcription factor binding|E-box binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity 0 AGCTGCTGGACGAGCATGACG 0.662 NA 11 45 0 0 0 0 GCN1L1 10985 broad.mit.edu 37 12 120572483 120572483 + Silent SNP G G A TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr12:120572483G>A uc001txo.2 - 52 7069 c.7056C>T c.(7054-7056)TTC>TTT p.F2352F NM_006836 NP_006827 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 2352 HEAT 21. regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding ovary(4) 4 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GGGCTTTGGTGAAAGTGGTCT 0.582 NA 8 69 0 0 0 0 ACADS 35 broad.mit.edu 37 12 121164932 121164932 + Silent SNP G G A TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr12:121164932G>A uc001tza.3 + 2 268 c.150G>A c.(148-150)GAG>GAA p.E50E ACADS_uc010szl.1_Silent_p.E50E NM_000017 NP_000008 P16219 ACADS_HUMAN short-chain acyl-CoA dehydrogenase precursor 50 mitochondrial matrix butyryl-CoA dehydrogenase activity central_nervous_system(2) 2 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) Lung NSC(355;0.163) NADH(DB00157) ACTTTGCCGAGAAGGAGTTGT 0.572 NA 11 184 0 0 0 0 CPB2 1361 broad.mit.edu 37 13 46656636 46656636 + Silent SNP G G A TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr13:46656636G>A uc001vaw.2 - 4 391 c.324C>T c.(322-324)AAC>AAT p.N108N uc001vau.1_Intron|uc001vav.1_Intron|CPB2_uc001vax.2_Silent_p.N108N NM_001872 NP_001863 Q96IY4 CBPB2_HUMAN plasma carboxypeptidase B2 isoform a 108 blood coagulation|fibrinolysis|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding ovary(1)|skin(1) 2 Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;5.44e-05) TGACTGTGTCGTTGGAAATCT 0.453 NA 7 109 0 0 0 0 RB1 5925 broad.mit.edu 37 13 49033886 49033886 + Missense_Mutation SNP G G C rs137853295 TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr13:49033886G>C uc001vcb.2 + 20 2189 c.2023G>C c.(2023-2025)GAA>CAA p.E675Q NM_000321 NP_000312 P06400 RB_HUMAN retinoblastoma 1 675 Pocket; binds T and E1A.|Domain B. androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.?(7) lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1) 358 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TGAGCACCCAGAATTAGAACA 0.423 6 D|Mis|N|F|S retinoblastoma|sarcoma|breast|small cell lung retinoblastoma|sarcoma|breast|small cell lung Hereditary_Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 6 87 0 0 0 0 OR4M1 441670 broad.mit.edu 37 14 20248859 20248859 + Silent SNP C C T TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr14:20248859C>T uc010tku.1 + 1 378 c.378C>T c.(376-378)ATC>ATT p.I126I NM_001005500 NP_001005500 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, 126 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) ATGCTGCTATCTGCCGACCCC 0.507 NA 19 512 0 0 0 0 ARHGAP5 394 broad.mit.edu 37 14 32561983 32561983 + Missense_Mutation SNP A A G TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr14:32561983A>G uc001wrl.2 + 2 2347 c.2108A>G c.(2107-2109)CAG>CGG p.Q703R ARHGAP5_uc001wrm.2_Missense_Mutation_p.Q703R|ARHGAP5_uc001wrn.2_Missense_Mutation_p.Q703R|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron NM_001173 NP_001025226 Q13017 RHG05_HUMAN Rho GTPase activating protein 5 isoform b 703 cell adhesion|Rho protein signal transduction cytosol|membrane GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding ovary(4)|central_nervous_system(1) 5 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00566) CTGGCTAATCAGAGAGATTCC 0.373 NA 4 49 0 0 0 0 MIPOL1 145282 broad.mit.edu 37 14 37777588 37777588 + Missense_Mutation SNP C C G TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr14:37777588C>G uc001wuc.2 + 10 1195 c.692C>G c.(691-693)GCA>GGA p.A231G MIPOL1_uc010amr.2_Intron|MIPOL1_uc001wub.3_Missense_Mutation_p.A200G|MIPOL1_uc001wud.2_Missense_Mutation_p.A231G|MIPOL1_uc010ams.2_Missense_Mutation_p.A231G|MIPOL1_uc001wue.2_Missense_Mutation_p.A200G|MIPOL1_uc010amt.2_Missense_Mutation_p.A50G NM_138731 NP_620059 Q8TD10 MIPO1_HUMAN mirror-image polydactyly 1 231 ovary(1)|central_nervous_system(1) 2 Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213) Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196) GBM - Glioblastoma multiforme(112;0.0358) ATAAACAATGCAGACACAGGG 0.313 NA 5 128 0 0 0 0 ESR2 2100 broad.mit.edu 37 14 64716327 64716327 + Nonsense_Mutation SNP G G A TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr14:64716327G>A uc001xha.1 - 7 1630 c.1162C>T c.(1162-1164)CGA>TGA p.R388* ESR2_uc001xgu.2_Nonsense_Mutation_p.R388*|ESR2_uc001xgv.2_Nonsense_Mutation_p.R388*|ESR2_uc001xgw.2_RNA|ESR2_uc001xgx.2_Nonsense_Mutation_p.R388*|ESR2_uc001xgy.1_Nonsense_Mutation_p.R388*|ESR2_uc001xgz.1_Nonsense_Mutation_p.R388*|ESR2_uc010aqb.1_RNA|ESR2_uc010aqc.1_Intron|ESR2_uc010aqd.1_Intron NM_001437 NP_001428 Q92731 ESR2_HUMAN estrogen receptor beta isoform 1 388 Steroid-binding. cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor mitochondrion|nucleoplasm enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding central_nervous_system(2)|ovary(1) 3 all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437) Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108) TTTAACTCTCGAAACCTTGAA 0.423 NA 10 62 0 0 0 0 SPTB 6710 broad.mit.edu 37 14 65234494 65234494 + Missense_Mutation SNP C C G TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr14:65234494C>G uc001xht.2 - 29 6160 c.6106G>C c.(6106-6108)GAC>CAC p.D2036H SPTB_uc001xhr.2_Missense_Mutation_p.D2036H|SPTB_uc001xhs.2_Missense_Mutation_p.D2036H|SPTB_uc001xhu.2_Missense_Mutation_p.D2036H|SPTB_uc010aqi.2_Missense_Mutation_p.D697H NM_000347 NP_000338 P11277 SPTB1_HUMAN spectrin beta isoform b 2036 Spectrin 17. actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton ovary(7)|skin(2)|lung(1)|central_nervous_system(1) 11 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) TGTCCAAAGTCCCCGCTGGCC 0.617 NA 4 74 0 0 0 0 FLRT2 23768 broad.mit.edu 37 14 86088748 86088748 + Missense_Mutation SNP A A G TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr14:86088748A>G uc001xvr.2 + 2 1657 c.890A>G c.(889-891)GAT>GGT p.D297G FLRT2_uc010atd.2_Missense_Mutation_p.D297G NM_013231 NP_037363 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 297 Extracellular (Potential).|LRR 10. cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity ovary(3)|haematopoietic_and_lymphoid_tissue(1) 4 BRCA - Breast invasive adenocarcinoma(234;0.0319) GGGGTTTTTGATAATCTCTCC 0.443 NA 21 234 0 0 0 0 TTBK2 146057 broad.mit.edu 37 15 43122171 43122171 + Missense_Mutation SNP G G A TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr15:43122171G>A uc001zqo.2 - 5 836 c.397C>T c.(397-399)CAT>TAT p.H133Y TTBK2_uc010bcy.2_Missense_Mutation_p.H64Y|TTBK2_uc001zqp.2_Missense_Mutation_p.H133Y|TTBK2_uc010bcz.1_Missense_Mutation_p.H133Y NM_173500 NP_775771 Q6IQ55 TTBK2_HUMAN tau tubulin kinase 2 133 Protein kinase. 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) CCCACAGAATGAATGCTTTCA 0.458 NA 5 49 0 0 0 0 SIN3A 25942 broad.mit.edu 37 15 75668128 75668128 + Missense_Mutation SNP C C G TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr15:75668128C>G uc002bai.2 - 20 3728 c.3469G>C c.(3469-3471)GAG>CAG p.E1157Q SIN3A_uc002baj.2_Missense_Mutation_p.E1157Q|SIN3A_uc010uml.1_Missense_Mutation_p.E1157Q NM_015477 NP_056292 Q96ST3 SIN3A_HUMAN transcriptional co-repressor Sin3A 1157 blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|Sin3 complex protein binding skin(3)|ovary(1)|lung(1) 5 TCCACATTCTCCATGGTCTTC 0.463 NA 6 131 0 0 0 0 ADAMTS17 170691 broad.mit.edu 37 15 100594257 100594257 + Missense_Mutation SNP G G C TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr15:100594257G>C uc002bvv.1 - 16 2219 c.2140C>G c.(2140-2142)CTC>GTC p.L714V NM_139057 NP_620688 Q8TE56 ATS17_HUMAN ADAM metallopeptidase with thrombospondin type 1 714 Spacer. proteolysis intracellular|proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(2)|central_nervous_system(1) 3 Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571) OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161) COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219) GAGTCTTTGAGAGCTAGAAAG 0.537 NA 11 126 0 0 0 0 C16orf73 254528 broad.mit.edu 37 16 1891862 1891862 + Silent SNP G G C TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr16:1891862G>C uc002cne.2 - 11 1111 c.993C>G c.(991-993)CTC>CTG p.L331L C16orf73_uc010uvq.1_Silent_p.L331L|C16orf73_uc010uvr.1_Silent_p.L124L NM_152764 NP_689977 Q8N635 CP073_HUMAN hypothetical protein LOC254528 isoform 2 331 meiosis cytoplasm 0 CATCAATGTTGAGTGTGGAAA 0.328 NA 4 37 0 0 0 0 CCNF 899 broad.mit.edu 37 16 2495573 2495573 + Silent SNP G G A TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr16:2495573G>A uc002cqd.1 + 10 1132 c.1044G>A c.(1042-1044)CCG>CCA p.P348P CCNF_uc002cqe.1_Silent_p.P40P NM_001761 NP_001752 P41002 CCNF_HUMAN cyclin F 348 Cyclin N-terminal. cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process centriole|nucleus|SCF ubiquitin ligase complex protein binding central_nervous_system(1)|kidney(1) 2 Ovarian(90;0.17) GGCTGGTGCCGCGGTACAGGC 0.652 NA 5 51 0 0 0 0 SMG1 23049 broad.mit.edu 37 16 18827770 18827770 + Missense_Mutation SNP G G C TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr16:18827770G>C uc002dfm.2 - 58 10519 c.10156C>G c.(10156-10158)CAG>GAG p.Q3386E SMG1_uc010bwb.2_Missense_Mutation_p.Q3246E|SMG1_uc010bwa.2_Missense_Mutation_p.Q2117E NM_015092 NP_055907 Q96Q15 SMG1_HUMAN PI-3-kinase-related kinase SMG-1 3386 DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1) 16 ATTGCCCTCTGAGTAGACATA 0.413 NA 4 61 0 0 0 0 ARHGAP17 55114 broad.mit.edu 37 16 24955123 24955123 + Silent SNP G G A TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr16:24955123G>A uc002dnb.2 - 15 1395 c.1302C>T c.(1300-1302)ATC>ATT p.I434I ARHGAP17_uc002dna.2_Silent_p.I161I|ARHGAP17_uc002dnc.2_Silent_p.I434I|ARHGAP17_uc010vcf.1_Silent_p.I255I NM_001006634 NP_001006635 Q68EM7 RHG17_HUMAN nadrin isoform 1 434 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|tight junction GTPase activator activity|SH3 domain binding 0 GBM - Glioblastoma multiforme(48;0.0407) CATGCTGAATGATGGGTTCAA 0.428 NA 6 74 0 0 0 0 C16orf93 90835 broad.mit.edu 37 16 30771928 30771928 + Missense_Mutation SNP C C G TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr16:30771928C>G uc002dzm.2 - 3 629 c.298G>C c.(298-300)GAG>CAG p.E100Q C16orf93_uc002dzn.2_Missense_Mutation_p.E100Q|C16orf93_uc002dzo.2_Missense_Mutation_p.E63Q|C16orf93_uc002dzp.2_Missense_Mutation_p.E100Q|RNF40_uc002dzq.2_5'Flank|RNF40_uc010caa.2_5'Flank|RNF40_uc010cab.2_5'Flank|RNF40_uc010vfa.1_5'Flank|RNF40_uc002dzr.2_5'Flank|RNF40_uc010vfb.1_5'Flank NM_001014979 NP_001014979 A1A4V9 CP093_HUMAN hypothetical protein LOC90835 100 0 AGTCCCTACTCCCTCATCTCA 0.522 NA 2 0 0 0 0 0 NUP93 9688 broad.mit.edu 37 16 56839414 56839414 + Splice_Site SNP A A T TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr16:56839414A>T uc002eka.2 + 5 482 c.361_splice c.e5-2 p.T121_splice NUP93_uc002ekb.2_Splice_Site|NUP93_uc010vhi.1_Splice_Site NM_014669 NP_055484 Q8N1F7 NUP93_HUMAN nucleoporin 93kDa carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding ovary(1)|lung(1) 2 CCTTTCTGGCAGACCTTCGGC 0.473 NA 4 45 0 0 0 0 CDH11 1009 broad.mit.edu 37 16 65032553 65032553 + Missense_Mutation SNP G G C TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr16:65032553G>C uc002eoi.2 - 4 869 c.435C>G c.(433-435)TTC>TTG p.F145L CDH11_uc010cdn.2_RNA|CDH11_uc002eoj.2_Missense_Mutation_p.F145L|CDH11_uc010vin.1_Missense_Mutation_p.F19L|CDH11_uc010vio.1_Missense_Mutation_p.F145L NM_001797 NP_001788 P55287 CAD11_HUMAN cadherin 11, type 2 preproprotein 145 Extracellular (Potential).|Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding lung(10)|ovary(3)|skin(1) 14 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) CCTTGACAATGAATTCCGACG 0.567 NA T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 3 65 0 0 0 0 CDH5 1003 broad.mit.edu 37 16 66423424 66423424 + Missense_Mutation SNP G G C TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr16:66423424G>C uc002eom.3 + 5 936 c.780G>C c.(778-780)CAG>CAC p.Q260H CDH5_uc002eon.1_Missense_Mutation_p.Q260H NM_001795 NP_001786 P33151 CADH5_HUMAN cadherin 5, type 2 preproprotein 260 Cadherin 3.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity integral to membrane|membrane fraction beta-catenin binding|calcium ion binding|ion channel binding|receptor binding ovary(2)|lung(2)|central_nervous_system(1)|skin(1) 6 Ovarian(137;0.0955) OV - Ovarian serous cystadenocarcinoma(108;0.107) TCTTCACCCAGAGTGAGCCCC 0.602 NA 3 40 0 0 0 0 DYNC1LI2 1783 broad.mit.edu 37 16 66759798 66759798 + Silent SNP C C T TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr16:66759798C>T uc002eqb.1 - 12 1342 c.1311G>A c.(1309-1311)TTG>TTA p.L437L DYNC1LI2_uc010vis.1_Silent_p.L360L NM_006141 NP_006132 O43237 DC1L2_HUMAN dynein, cytoplasmic, light intermediate 437 transport centrosome|cytoplasmic dynein complex|microtubule ATP binding|motor activity central_nervous_system(3)|skin(1) 4 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212) TCTTTTTACTCAACAGACTGT 0.458 NA 7 187 0 0 0 0 NFAT5 10725 broad.mit.edu 37 16 69689635 69689635 + Missense_Mutation SNP G G C TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr16:69689635G>C uc002exm.1 + 5 2283 c.1075G>C c.(1075-1077)GAA>CAA p.E359Q NFAT5_uc002exh.1_Missense_Mutation_p.E153Q|NFAT5_uc002exi.2_Missense_Mutation_p.E283Q|NFAT5_uc002exj.1_Missense_Mutation_p.E283Q|NFAT5_uc002exk.1_Missense_Mutation_p.E283Q|NFAT5_uc002exl.1_Missense_Mutation_p.E377Q|NFAT5_uc002exn.1_Missense_Mutation_p.E377Q NM_006599 NP_006590 O94916 NFAT5_HUMAN nuclear factor of activated T-cells 5 isoform c 359 RHD. excretion|signal transduction|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity 0 TCCTTGCAAAGAAGTGGACAT 0.423 NA 3 71 0 0 0 0 VAT1L 57687 broad.mit.edu 37 16 77896753 77896753 + Missense_Mutation SNP G G C TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr16:77896753G>C uc002ffg.1 + 4 785 c.688G>C c.(688-690)GAC>CAC p.D230H NM_020927 NP_065978 Q9HCJ6 VAT1L_HUMAN vesicle amine transport protein 1 homolog (T. 230 oxidoreductase activity|zinc ion binding central_nervous_system(1) 1 CCACCTCTTTGACAGAAATGC 0.473 NA 4 112 0 0 0 0 CNTROB 116840 broad.mit.edu 37 17 7838431 7838431 + Missense_Mutation SNP G G C TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr17:7838431G>C uc002gjq.2 + 5 1481 c.562G>C c.(562-564)GAT>CAT p.D188H CNTROB_uc002gjp.2_Missense_Mutation_p.D188H|CNTROB_uc002gjr.2_Missense_Mutation_p.D90H|CNTROB_uc010vum.1_5'Flank NM_053051 NP_444279 Q8N137 CNTRB_HUMAN centrobin, centrosomal BRCA2 interacting protein 188 centriole replication|centrosome separation|cytokinesis centriole protein domain specific binding breast(1)|central_nervous_system(1) 2 Prostate(122;0.173) GGGGCTGAGAGATGCATTGGA 0.542 NA 3 65 0 0 0 0 KRBA2 124751 broad.mit.edu 37 17 8273686 8273686 + Missense_Mutation SNP G G C TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr17:8273686G>C uc002glf.1 - 2 251 c.245C>G c.(244-246)TCC>TGC p.S82C KRBA2_uc002glg.1_5'UTR NM_213597 NP_998762 Q6ZNG9 KRBA2_HUMAN KRAB-A domain containing 2 82 KRAB. DNA integration|regulation of transcription, DNA-dependent intracellular DNA binding 0 AGGCATCATGGAGAGCTGTAA 0.403 NA 5 78 0 0 0 0 KRBA2 124751 broad.mit.edu 37 17 8274828 8274828 + Missense_Mutation SNP G G C TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr17:8274828G>C uc002glf.1 - 1 31 c.25C>G c.(25-27)CTT>GTT p.L9V KRBA2_uc002glg.1_Intron NM_213597 NP_998762 Q6ZNG9 KRBA2_HUMAN KRAB-A domain containing 2 9 DNA integration|regulation of transcription, DNA-dependent intracellular DNA binding 0 GAAGAGACAAGAGAGGGCACC 0.483 NA 3 56 0 0 0 0 FAM83G 644815 broad.mit.edu 37 17 18881189 18881189 + Nonsense_Mutation SNP G G C TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr17:18881189G>C uc002guw.2 - 5 1957 c.1790C>G c.(1789-1791)TCA>TGA p.S597* SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron NM_001039999 NP_001035088 A6ND36 FA83G_HUMAN hypothetical protein LOC644815 597 ovary(1)|central_nervous_system(1) 2 GGAGCTGCCTGAGTGGCTGTC 0.642 NA 11 68 0 0 0 0 TNFAIP1 7126 broad.mit.edu 37 17 26669278 26669278 + Missense_Mutation SNP C C G TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr17:26669278C>G uc002hax.1 + 6 543 c.524C>G c.(523-525)TCT>TGT p.S175C TNFAIP1_uc002hay.2_Missense_Mutation_p.S175C|TNFAIP1_uc010waf.1_Missense_Mutation_p.S71C NM_021137 NP_066960 Q13829 BACD2_HUMAN tumor necrosis factor, alpha-induced protein 1 175 apoptosis|cell migration|DNA replication|embryo development|immune response|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly Cul3-RING ubiquitin ligase complex|endosome|nucleus|voltage-gated potassium channel complex GTP-Rho binding|voltage-gated potassium channel activity 0 all_lung(13;0.000294)|Lung NSC(42;0.000964) UCEC - Uterine corpus endometrioid carcinoma (53;0.153) TTCAGCAACTCTGACGACCAC 0.572 NA 4 31 0 0 0 0 LRRC37B 114659 broad.mit.edu 37 17 30349042 30349042 + Missense_Mutation SNP C C G TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr17:30349042C>G uc002hgu.2 + 1 888 c.877C>G c.(877-879)CAG>GAG p.Q293E LRRC37B_uc010wbx.1_Missense_Mutation_p.Q211E|LRRC37B_uc010csu.2_Missense_Mutation_p.Q293E NM_052888 NP_443120 Q96QE4 LR37B_HUMAN leucine rich repeat containing 37B precursor 293 Extracellular (Potential). integral to membrane upper_aerodigestive_tract(1)|ovary(1) 2 Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244) ACAGCTCCCTCAGGAGGTAGA 0.522 NA 16 127 0 0 0 0 ACACA 31 broad.mit.edu 37 17 35602001 35602001 + Missense_Mutation SNP G G C TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr17:35602001G>C uc002hnm.2 - 20 2670 c.2479C>G c.(2479-2481)CAG>GAG p.Q827E ACACA_uc002hnk.2_Missense_Mutation_p.Q749E|ACACA_uc002hnl.2_Missense_Mutation_p.Q769E|ACACA_uc002hnn.2_Missense_Mutation_p.Q827E|ACACA_uc002hno.2_Missense_Mutation_p.Q864E|ACACA_uc010cuz.2_Missense_Mutation_p.Q827E NM_198836 NP_942133 Q13085 ACACA_HUMAN acetyl-Coenzyme A carboxylase alpha isoform 2 827 acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding large_intestine(1)|ovary(1) 2 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) CTCACCTGCTGAACCTTGCTG 0.498 NA 20 295 0 0 0 0 NPEPPS 9520 broad.mit.edu 37 17 45662950 45662950 + Missense_Mutation SNP C C G TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr17:45662950C>G uc002ilr.3 + 6 956 c.733C>G c.(733-735)CTG>GTG p.L245V NPEPPS_uc010wkt.1_Missense_Mutation_p.L241V|NPEPPS_uc010wku.1_Missense_Mutation_p.L209V|NPEPPS_uc010dba.1_Missense_Mutation_p.L90V|NPEPPS_uc010wkv.1_5'Flank NM_006310 NP_006301 P55786 PSA_HUMAN aminopeptidase puromycin sensitive 245 proteolysis cytosol|nucleus aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding 0 GTCTACATATCTGGTGGCATT 0.403 NA 19 133 0 0 0 0 KCNH6 81033 broad.mit.edu 37 17 61621693 61621693 + Missense_Mutation SNP C C G TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr17:61621693C>G uc002jay.2 + 12 2505 c.2425C>G c.(2425-2427)CAA>GAA p.Q809E KCNH6_uc010wpl.1_Missense_Mutation_p.Q650E|KCNH6_uc010wpm.1_Missense_Mutation_p.Q773E|KCNH6_uc002jaz.1_Missense_Mutation_p.Q720E NM_030779 NP_110406 Q9H252 KCNH6_HUMAN potassium voltage-gated channel, subfamily H, 809 Cytoplasmic (Potential). regulation of transcription, DNA-dependent|signal transduction skin(1) 1 Ibutilide(DB00308) GCACAGCCCCCAAAGCCCTCA 0.617 NA 5 35 0 0 0 0 DDX42 11325 broad.mit.edu 37 17 61889312 61889312 + Missense_Mutation SNP G G C TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr17:61889312G>C uc002jbu.2 + 15 1676 c.1419G>C c.(1417-1419)CAG>CAC p.Q473H DDX42_uc002jbv.2_Missense_Mutation_p.Q473H|DDX42_uc002jbw.1_Missense_Mutation_p.Q209H|DDX42_uc002jbx.2_Missense_Mutation_p.Q209H|DDX42_uc002jby.2_Missense_Mutation_p.Q19H NM_007372 NP_031398 Q86XP3 DDX42_HUMAN DEAD box polypeptide 42 protein 473 protein localization|regulation of anti-apoptosis Cajal body|cytoplasm|nuclear speck ATP binding|ATP-dependent helicase activity|protein binding|RNA binding ovary(2)|skin(2)|large_intestine(1) 5 ATGTGACACAGATTGTGGAGA 0.443 NA 27 275 0 0 0 0 YES1 7525 broad.mit.edu 37 18 743308 743308 + Nonsense_Mutation SNP G G A TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr18:743308G>A uc002kky.2 - 7 1053 c.832C>T c.(832-834)CGA>TGA p.R278* YES1_uc002kkz.2_Nonsense_Mutation_p.R278* NM_005433 NP_005424 P07947 YES_HUMAN viral oncogene yes-1 homolog 1 278 Protein kinase. blood coagulation|leukocyte migration|regulation of vascular permeability|T cell costimulation cytosol|plasma membrane ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity lung(2)|ovary(1) 3 Dasatinib(DB01254) ACCTCTAGTCGCAAAGATTCT 0.423 NA 8 55 0 0 0 0 ZNF407 55628 broad.mit.edu 37 18 72345521 72345521 + Missense_Mutation SNP C C T TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr18:72345521C>T uc002llw.2 + 1 2603 c.2546C>T c.(2545-2547)TCA>TTA p.S849L ZNF407_uc010xfc.1_Missense_Mutation_p.S849L|ZNF407_uc010dqu.1_Missense_Mutation_p.S849L|ZNF407_uc002llu.2_Missense_Mutation_p.S848L NM_017757 NP_060227 Q9C0G0 ZN407_HUMAN zinc finger protein 407 isoform 1 849 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.184) GGTAACATCTCACGGACGTGT 0.438 NA 8 74 0 0 0 0 GNA15 2769 broad.mit.edu 37 19 3155896 3155896 + Missense_Mutation SNP C C G TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr19:3155896C>G uc002lxf.2 + 5 948 c.690C>G c.(688-690)ATC>ATG p.I230M NM_002068 NP_002059 P30679 GNA15_HUMAN guanine nucleotide binding protein (G protein), 230 activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity skin(2) 2 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184) TCGCCCTCATCTACCTGGCCT 0.602 NA 3 48 0 0 0 0 DPY19L3 147991 broad.mit.edu 37 19 32954294 32954294 + Missense_Mutation SNP G G A rs148244577 byFrequency TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr19:32954294G>A uc002ntg.2 + 13 1521 c.1345G>A c.(1345-1347)GTG>ATG p.V449M DPY19L3_uc002nth.1_Missense_Mutation_p.V449M|DPY19L3_uc002nti.1_RNA NM_207325 NP_997208 Q6ZPD9 D19L3_HUMAN dpy-19-like 3 449 integral to membrane ovary(4) 4 Esophageal squamous(110;0.162) TCAACAATCCGTGGGTAAAAT 0.338 NA 6 52 0 0 0 0 KIRREL2 84063 broad.mit.edu 37 19 36357106 36357106 + Silent SNP G G A TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr19:36357106G>A uc002ocb.3 + 15 2051 c.1839G>A c.(1837-1839)CTG>CTA p.L613L KIRREL2_uc002obz.3_Intron|KIRREL2_uc002oca.3_Intron|KIRREL2_uc002occ.3_Silent_p.L560L|KIRREL2_uc002ocd.3_Silent_p.L575L|APLP1_uc010xsz.1_5'Flank|APLP1_uc002oce.2_5'Flank|APLP1_uc002ocf.2_5'Flank|APLP1_uc002ocg.2_5'Flank NM_199180 NP_954649 Q6UWL6 KIRR2_HUMAN kin of IRRE-like 2 isoform c 613 Cytoplasmic (Potential). cell adhesion integral to membrane|plasma membrane ovary(1)|central_nervous_system(1)|skin(1) 3 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GTGTGAGCCTGAGCCTTGGCG 0.607 NA 12 98 0 0 0 0 LTBP4 8425 broad.mit.edu 37 19 41122917 41122917 + Missense_Mutation SNP G G A TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr19:41122917G>A uc002ooh.1 + 23 3136 c.3136G>A c.(3136-3138)GGA>AGA p.G1046R LTBP4_uc002oog.1_Missense_Mutation_p.G1009R|LTBP4_uc002ooi.1_Missense_Mutation_p.G979R|LTBP4_uc002ooj.1_5'UTR|LTBP4_uc002ook.1_Intron|LTBP4_uc002ool.1_Intron|LTBP4_uc002oom.1_Intron|LTBP4_uc010xvp.1_Intron NM_001042544 NP_001036009 Q8N2S1 LTBP4_HUMAN latent transforming growth factor beta binding 1046 Cys-rich. growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity central_nervous_system(1) 1 Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384) GCCAGGGGGCGGATGCCAGGG 0.602 NA 8 49 0 0 0 0 CLPTM1 1209 broad.mit.edu 37 19 45490456 45490456 + Silent SNP G G A TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr19:45490456G>A uc002pai.2 + 8 828 c.813G>A c.(811-813)GTG>GTA p.V271V CLPTM1_uc010ejv.1_Silent_p.V169V|CLPTM1_uc010xxf.1_Silent_p.V169V|CLPTM1_uc010xxg.1_Silent_p.V257V NM_001294 NP_001285 O96005 CLPT1_HUMAN cleft lip and palate associated transmembrane 271 Extracellular (Potential). cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus external side of plasma membrane|integral to plasma membrane ovary(1) 1 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187) TCGACGCCGTGAGCGGTGACT 0.612 NA 17 157 0 0 0 0 SPHK2 56848 broad.mit.edu 37 19 49129394 49129394 + Missense_Mutation SNP G G A TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr19:49129394G>A uc002pjr.2 + 3 652 c.286G>A c.(286-288)GAG>AAG p.E96K SPHK2_uc010xzt.1_Missense_Mutation_p.E37K|SPHK2_uc002pjs.2_Missense_Mutation_p.E96K|SPHK2_uc002pjt.2_Intron|SPHK2_uc002pju.2_Missense_Mutation_p.E60K|SPHK2_uc002pjv.2_Missense_Mutation_p.E60K|SPHK2_uc002pjw.2_Missense_Mutation_p.E158K|SPHK2_uc010xzu.1_Missense_Mutation_p.E60K NM_020126 NP_064511 Q9NRA0 SPHK2_HUMAN sphingosine kinase 2 96 Required for binding to sulfatide and phosphoinositides and for membrane localization. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process cytosol|lysosomal membrane|membrane fraction ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity lung(1) 1 all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158) CCCGTTGGCCGAGGTCTCAGG 0.587 NA 8 47 0 0 0 0 ZNF836 162962 broad.mit.edu 37 19 52658816 52658816 + Nonsense_Mutation SNP G G C TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr19:52658816G>C uc010ydi.1 - 5 2494 c.2120C>G c.(2119-2121)TCA>TGA p.S707* ZNF836_uc010ydj.1_Nonsense_Mutation_p.S707* NM_001102657 NP_001096127 Q6ZNA1 ZN836_HUMAN zinc finger protein 836 707 C2H2-type 18; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TGCAAGTTTTGAACTTTGGAT 0.398 NA 11 59 0 0 0 0 MYADM 91663 broad.mit.edu 37 19 54377026 54377026 + Missense_Mutation SNP C C G TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr19:54377026C>G uc002qcl.2 + 3 391 c.243C>G c.(241-243)ATC>ATG p.I81M MYADM_uc002qcm.2_Missense_Mutation_p.I81M|MYADM_uc002qcn.2_Missense_Mutation_p.I81M|MYADM_uc002qco.2_Missense_Mutation_p.I81M|MYADM_uc002qcp.2_Missense_Mutation_p.I81M NM_001020820 NP_001018656 Q96S97 MYADM_HUMAN myeloid-associated differentiation marker 81 MARVEL 1.|Helical; (Potential). Missing (in Ref. 4; BAC04265). integral to membrane ovary(1) 1 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.0488) TGACCCTGATCATCCTCATCG 0.642 NA OREG0003650 type=REGULATORY REGION|Gene=MYADM|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 6 123 0 0 0 0 FCAR 2204 broad.mit.edu 37 19 55401062 55401062 + Missense_Mutation SNP G G A TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr19:55401062G>A uc002qhr.1 + 5 894 c.697G>A c.(697-699)GTG>ATG p.V233M FCAR_uc002qhs.1_RNA|FCAR_uc002qht.1_Missense_Mutation_p.V184M|FCAR_uc010esi.1_Missense_Mutation_p.V110M|FCAR_uc002qhu.1_Missense_Mutation_p.V137M|FCAR_uc002qhv.1_Missense_Mutation_p.V211M|FCAR_uc002qhw.1_Missense_Mutation_p.V221M|FCAR_uc002qhx.1_Missense_Mutation_p.V125M|FCAR_uc002qhy.1_Missense_Mutation_p.V199M|FCAR_uc002qhz.1_Missense_Mutation_p.R196H|FCAR_uc002qia.1_Missense_Mutation_p.V124M NM_002000 NP_001991 P24071 FCAR_HUMAN Fc alpha receptor isoform a precursor 233 Helical; (Potential). immune response extracellular region|integral to plasma membrane IgA binding|receptor activity ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(193;0.0443) CCGCATGGCCGTGGCAGGACT 0.527 NA 31 387 0 0 0 0 ZNF274 10782 broad.mit.edu 37 19 58697097 58697097 + Missense_Mutation SNP G G A TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr19:58697097G>A uc002qrq.1 + 3 511 c.52G>A c.(52-54)GAT>AAT p.D18N ZNF274_uc010yhu.1_RNA|ZNF274_uc010yhv.1_Intron|ZNF274_uc002qrr.1_Missense_Mutation_p.D18N|ZNF274_uc002qrs.1_Intron|ZNF274_uc010eum.1_5'UTR NM_133502 NP_598009 Q96GC6 ZN274_HUMAN zinc finger protein 274 isoform c 18 KRAB 1. viral reproduction centrosome|nucleolus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding ovary(1) 1 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215) GACCTTTGAAGATGTAACACT 0.517 NA 12 97 0 0 0 0 CHMP2A 27243 broad.mit.edu 37 19 59063499 59063499 + Silent SNP C C T TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr19:59063499C>T uc002qti.2 - 3 828 c.402G>A c.(400-402)GAG>GAA p.E134E CHMP2A_uc002qtj.2_Silent_p.E134E|CHMP2A_uc002qtk.2_Silent_p.E134E NM_198426 NP_940818 O43633 CHM2A_HUMAN chromatin modifying protein 2A 134 Interaction with VPS4B. cellular membrane organization|endosome transport|protein transport cytosol|late endosome membrane protein domain specific binding 0 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179) TATCCATGATCTCTGCCTGCC 0.512 NA 12 186 0 0 0 0 SOS1 6654 broad.mit.edu 37 2 39234174 39234174 + Missense_Mutation SNP C C G TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr2:39234174C>G uc002rrk.3 - 16 2712 c.2671G>C c.(2671-2673)GAG>CAG p.E891Q SOS1_uc002rrj.3_Missense_Mutation_p.E505Q NM_005633 NP_005624 Q07889 SOS1_HUMAN son of sevenless homolog 1 891 Ras-GEF. apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity ovary(4)|breast(3)|lung(2)|central_nervous_system(1) 10 all_hematologic(82;0.21) AAACCTACCTCAAATGTGTGG 0.284 NA Noonan_syndrome 3 87 0 0 0 0 SOS1 6654 broad.mit.edu 37 2 39234255 39234255 + Missense_Mutation SNP C C G TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr2:39234255C>G uc002rrk.3 - 16 2631 c.2590G>C c.(2590-2592)GAG>CAG p.E864Q SOS1_uc002rrj.3_Missense_Mutation_p.E478Q NM_005633 NP_005624 Q07889 SOS1_HUMAN son of sevenless homolog 1 864 Ras-GEF. apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity ovary(4)|breast(3)|lung(2)|central_nervous_system(1) 10 all_hematologic(82;0.21) TTGTTCAACTCTTGAAAGACT 0.358 NA Noonan_syndrome 11 126 0 0 0 0 KDM3A 55818 broad.mit.edu 37 2 86693679 86693679 + Missense_Mutation SNP G G A TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr2:86693679G>A uc002sri.3 + 10 1519 c.1192G>A c.(1192-1194)GAT>AAT p.D398N KDM3A_uc010ytj.1_Missense_Mutation_p.D398N|KDM3A_uc010ytk.1_Missense_Mutation_p.D346N NM_018433 NP_060903 Q9Y4C1 KDM3A_HUMAN jumonji domain containing 1A 398 androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent cytoplasm|nucleus androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(2)|ovary(1)|central_nervous_system(1)|skin(1) 5 GACAAACACTGATCAGGAAAA 0.453 NA 15 169 0 0 0 0 MITD1 129531 broad.mit.edu 37 2 99797402 99797402 + Missense_Mutation SNP C C T TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr2:99797402C>T uc002szs.1 - 1 91 c.43G>A c.(43-45)GCA>ACA p.A15T MRPL30_uc002szl.1_Intron|MRPL30_uc002szr.2_Intron|MRPL30_uc002szt.1_5'Flank|MRPL30_uc002szu.2_5'Flank|MRPL30_uc002szv.2_5'Flank NM_138798 NP_620153 Q8WV92 MITD1_HUMAN MIT, microtubule interacting and transport, 15 MIT. protein transport late endosome membrane large_intestine(1)|ovary(1) 2 ACAGTGGCTGCAGCTGTGCTC 0.587 NA 5 57 0 0 0 0 EIF5B 9669 broad.mit.edu 37 2 100007051 100007051 + Missense_Mutation SNP G G C TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr2:100007051G>C uc002tab.2 + 17 2815 c.2631G>C c.(2629-2631)TTG>TTC p.L877F NM_015904 NP_056988 O60841 IF2P_HUMAN eukaryotic translation initiation factor 5B 877 regulation of translational initiation cytosol GTP binding|GTPase activity|protein binding|translation initiation factor activity ovary(2)|pancreas(1) 3 ATGTCATCTTGATCAATGGGC 0.438 NA 3 80 0 0 0 0 BAZ2B 29994 broad.mit.edu 37 2 160229587 160229587 + Silent SNP C C T TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr2:160229587C>T uc002uao.2 - 27 4534 c.4182G>A c.(4180-4182)GGG>GGA p.G1394G BAZ2B_uc002uap.2_Silent_p.G1358G NM_013450 NP_038478 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 1394 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(3)|skin(1) 4 CTACAAAAATCCCCCCACATT 0.403 NA 4 49 0 0 0 0 LRP2 4036 broad.mit.edu 37 2 170050332 170050332 + Missense_Mutation SNP C C G TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr2:170050332C>G uc002ues.2 - 47 8982 c.8769G>C c.(8767-8769)TGG>TGC p.W2923C NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 2923 LDL-receptor class A 21.|Extracellular (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) CGTCACAGATCCATTCGCTTG 0.463 NA 5 98 0 0 0 0 NAB1 4664 broad.mit.edu 37 2 191524404 191524404 + Missense_Mutation SNP G G A TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr2:191524404G>A uc002usb.2 + 4 1074 c.502G>A c.(502-504)GAG>AAG p.E168K NAB1_uc010fsc.2_Missense_Mutation_p.E168K|NAB1_uc010fsd.2_Missense_Mutation_p.E168K|NAB1_uc002usc.2_Missense_Mutation_p.E168K|NAB1_uc010zgh.1_Missense_Mutation_p.E168K NM_005966 NP_005957 Q13506 NAB1_HUMAN NGFI-A binding protein 1 168 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0405)|all cancers(119;0.109) CCATGCCACTGAGAGCGAGCA 0.627 NA 7 40 0 0 0 0 CASP8 841 broad.mit.edu 37 2 202151270 202151270 + Nonsense_Mutation SNP C C T TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr2:202151270C>T uc002uxr.1 + 10 1602 c.1393C>T c.(1393-1395)CAG>TAG p.Q465* CASP8_uc002uxp.1_Nonsense_Mutation_p.Q482*|CASP8_uc002uxq.1_Nonsense_Mutation_p.Q450*|CASP8_uc002uxt.1_Nonsense_Mutation_p.Q524*|CASP8_uc002uxu.1_RNA|CASP8_uc002uxw.1_Nonsense_Mutation_p.Q450*|CASP8_uc002uxy.1_Intron|CASP8_uc002uxx.1_Intron|CASP8_uc010ftf.2_Nonsense_Mutation_p.Q381* NM_033355 NP_203519 Q14790 CASP8_HUMAN caspase 8 isoform B precursor 465 activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor centrosome|cytosol|mitochondrial outer membrane cysteine-type endopeptidase activity|protein binding|protein binding upper_aerodigestive_tract(2)|ovary(1)|breast(1)|skin(1) 5 ACAGATGCCTCAGCCTACTTT 0.313 NA HNSCC(4;0.00038) 7 40 0 0 0 0 WDR12 55759 broad.mit.edu 37 2 203772641 203772641 + Missense_Mutation SNP G G C TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr2:203772641G>C uc002uzl.2 - 2 833 c.83C>G c.(82-84)TCT>TGT p.S28C WDR12_uc010ftt.2_Missense_Mutation_p.S28C NM_018256 NP_060726 Q9GZL7 WDR12_HUMAN WD repeat domain 12 protein 28 cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) nucleoplasm|PeBoW complex|preribosome, large subunit precursor protein binding 0 GGCAATTTCAGAGGCAGCAGG 0.373 NA 3 38 0 0 0 0 SMARCAL1 50485 broad.mit.edu 37 2 217279568 217279568 + Silent SNP C C T TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr2:217279568C>T uc002vgc.3 + 3 471 c.141C>T c.(139-141)TTC>TTT p.F47F SMARCAL1_uc010fvf.2_RNA|SMARCAL1_uc002vgd.3_Silent_p.F47F|SMARCAL1_uc010fvg.2_Silent_p.F47F NM_014140 NP_054859 Q9NZC9 SMAL1_HUMAN SWI/SNF-related matrix-associated 47 chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter nucleus ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity ovary(3)|breast(3)|skin(1) 7 Renal(323;0.0458) Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111) GCAACCCATTCCAGGCCAAGC 0.507 NA Schimke_Immuno-Osseous_Dysplasia 14 181 0 0 0 0 COL6A3 1293 broad.mit.edu 37 2 238283539 238283539 + Silent SNP G G A TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr2:238283539G>A uc002vwl.2 - 8 3480 c.3195C>T c.(3193-3195)GTC>GTT p.V1065V COL6A3_uc002vwo.2_Silent_p.V859V|COL6A3_uc010znj.1_Silent_p.V458V|COL6A3_uc002vwq.2_Silent_p.V859V|COL6A3_uc002vwr.2_Silent_p.V658V NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor 1065 Nonhelical region.|VWFA 6. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 18 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) CGGCCACGCGGACCCGGTCCT 0.592 NA 9 79 0 0 0 0 ITPA 3704 broad.mit.edu 37 20 3194643 3194643 + Missense_Mutation SNP G G A TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr20:3194643G>A uc002wid.2 + 4 344 c.202G>A c.(202-204)GTG>ATG p.V68M ITPA_uc002wie.2_Missense_Mutation_p.V51M|ITPA_uc002wif.2_RNA NM_033453 NP_258412 Q9BY32 ITPA_HUMAN inosine triphosphatase isoform a 68 nucleotide metabolic process cytoplasm metal ion binding|nucleoside-triphosphate diphosphatase activity|nucleotide binding ovary(1) 1 ACAGGGGCCCGTGCTGGTTGA 0.627 NA 6 89 0 0 0 0 CEP250 11190 broad.mit.edu 37 20 34091328 34091328 + Missense_Mutation SNP G G C TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr20:34091328G>C uc002xcm.2 + 31 5802 c.5131G>C c.(5131-5133)GAG>CAG p.E1711Q CEP250_uc010zve.1_Missense_Mutation_p.E1079Q NM_007186 NP_009117 Q9BV73 CP250_HUMAN centrosomal protein 2 1711 Gln/Glu-rich.|Potential. centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex protein C-terminus binding|protein kinase binding ovary(4)|central_nervous_system(1) 5 Lung NSC(9;0.00156)|all_lung(11;0.00243) BRCA - Breast invasive adenocarcinoma(18;0.0106) GGAACGGGCAGAGGAAGGGAA 0.582 NA 6 122 0 0 0 0 HMGXB4 10042 broad.mit.edu 37 22 35658315 35658315 + Splice_Site SNP G G C TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr22:35658315G>C uc003anl.2 + 2 107 c.-67_splice c.e2-1 HMGXB4_uc011amh.1_Intron|HMGXB4_uc003ank.2_Splice_Site NM_001003681 NP_001003681 Q9UGU5 HMGX4_HUMAN high-mobility group protein 2-like 1 endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway NURF complex DNA binding breast(1)|skin(1) 2 TTGTTTCTCAGACCTGGTCCT 0.512 NA 11 119 0 0 0 0 PACSIN2 11252 broad.mit.edu 37 22 43272940 43272940 + Missense_Mutation SNP C C T TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr22:43272940C>T uc010gzg.2 - 9 1327 c.1105G>A c.(1105-1107)GAC>AAC p.D369N PACSIN2_uc003bdg.3_Missense_Mutation_p.D369N|PACSIN2_uc003bde.3_Missense_Mutation_p.D369N|PACSIN2_uc003bdf.3_Intron NM_007229 NP_009160 Q9UNF0 PACN2_HUMAN protein kinase C and casein kinase substrate in 369 actin cytoskeleton organization|endocytosis cytoplasmic membrane-bounded vesicle transporter activity 0 Glioma(61;0.222) CTGCCCGTGTCGTCCTCATCC 0.567 NA 12 164 0 0 0 0 PLXNB2 23654 broad.mit.edu 37 22 50728422 50728422 + Missense_Mutation SNP C C T TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr22:50728422C>T uc003bkv.3 - 3 698 c.592G>A c.(592-594)GAA>AAA p.E198K NM_012401 NP_036533 O15031 PLXB2_HUMAN plexin B2 precursor 198 Extracellular (Potential).|Sema. regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity ovary(4)|central_nervous_system(1)|skin(1) 6 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) GTGTAGGCTTCAAAGGCCTCC 0.607 NA 5 57 0 0 0 0 TREX1 11277 broad.mit.edu 37 3 48508971 48508971 + Missense_Mutation SNP G G A TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr3:48508971G>A uc003ctj.2 + 2 2339 c.1082G>A c.(1081-1083)GGA>GAA p.G361E TREX1_uc010hjy.2_Missense_Mutation_p.G306E|TREX1_uc003ctk.2_Missense_Mutation_p.G167E|TREX1_uc010hjz.2_Missense_Mutation_p.G306E|TREX1_uc010hka.2_Missense_Mutation_p.G361E NM_033629 NP_338599 Q9NSU2 TREX1_HUMAN three prime repair exonuclease 1 isoform b 361 G -> A (in systemic lupus erythematosus). cell death|DNA recombination|DNA replication|mismatch repair nuclear envelope 3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|metal ion binding|MutLalpha complex binding|MutSalpha complex binding|protein homodimerization activity|single-stranded DNA binding 0 BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) ACACTGTATGGACTATCCCTG 0.592 NA Direct_reversal_of_damage|Editing_and_processing_nucleases 6 59 0 0 0 0 DALRD3 55152 broad.mit.edu 37 3 49053656 49053656 + Missense_Mutation SNP C C G TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr3:49053656C>G uc003cvk.1 - 9 1284 c.1264G>C c.(1264-1266)GAA>CAA p.E422Q DALRD3_uc003cvl.1_Missense_Mutation_p.E422Q|DALRD3_uc003cvm.1_Missense_Mutation_p.E255Q|DALRD3_uc010hko.1_Missense_Mutation_p.E255Q|DALRD3_uc011bca.1_Missense_Mutation_p.E422Q NM_001009996 NP_001009996 Q5D0E6 DALD3_HUMAN DALR anticodon binding domain containing 3 422 arginyl-tRNA aminoacylation cytoplasm arginine-tRNA ligase activity|ATP binding 0 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) AGACCTTGTTCCATACTACAC 0.502 NA 6 67 0 0 0 0 RASSF1 11186 broad.mit.edu 37 3 50369058 50369058 + Missense_Mutation SNP C C T rs148222115 byFrequency TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr3:50369058C>T uc003dad.1 - 4 835 c.704G>A c.(703-705)CGA>CAA p.R235Q RASSF1_uc003daa.1_Missense_Mutation_p.R80Q|RASSF1_uc003dab.1_Missense_Mutation_p.R161Q|RASSF1_uc003dac.2_Missense_Mutation_p.R80Q|RASSF1_uc003dae.1_Missense_Mutation_p.R231Q|RASSF1_uc010hlk.1_RNA|RASSF1_uc003daf.1_Missense_Mutation_p.R80Q NM_170714 NP_733832 Q9NS23 RASF1_HUMAN Ras association domain family 1 isoform D 235 Ras-associating. cell cycle arrest|negative regulation of cell cycle arrest|positive regulation of protein ubiquitination|protein stabilization|Ras protein signal transduction|response to DNA damage stimulus microtubule|microtubule cytoskeleton|microtubule organizing center|nucleus|spindle pole identical protein binding|protein binding|protein N-terminus binding|zinc ion binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.000278)|OV - Ovarian serous cystadenocarcinoma(275;0.0015)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) CAAGAACTTTCGCAGCAGGGC 0.597 NA 11 77 0 0 0 0 PRICKLE2 166336 broad.mit.edu 37 3 64145632 64145632 + Missense_Mutation SNP C C T TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr3:64145632C>T uc003dmf.2 - 4 966 c.380G>A c.(379-381)GGA>GAA p.G127E NM_198859 NP_942559 Q7Z3G6 PRIC2_HUMAN prickle-like 2 127 cytoplasm|nuclear membrane zinc ion binding ovary(4)|skin(1) 5 Lung NSC(201;0.136) BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497) ACAAATAGCTCCTGTCATGGT 0.438 NA 15 151 0 0 0 0 GPR156 165829 broad.mit.edu 37 3 119885902 119885902 + Missense_Mutation SNP C C T TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr3:119885902C>T uc011bjf.1 - 9 2422 c.2422G>A c.(2422-2424)GAC>AAC p.D808N GPR156_uc011bjg.1_Missense_Mutation_p.D804N NM_153002 NP_694547 Q8NFN8 GP156_HUMAN G protein-coupled receptor 156 808 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity|GABA-B receptor activity ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(114;0.19) GGTTTCAAGTCATCTTTGAAG 0.537 NA 9 300 0 0 0 0 MYLK 4638 broad.mit.edu 37 3 123452808 123452808 + Silent SNP G G A TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr3:123452808G>A uc003ego.2 - 10 1317 c.1035C>T c.(1033-1035)ATC>ATT p.I345I MYLK_uc011bjw.1_Silent_p.I345I|MYLK_uc003egp.2_Silent_p.I345I|MYLK_uc003egq.2_Silent_p.I345I|MYLK_uc003egr.2_Silent_p.I345I|MYLK_uc003egs.2_Silent_p.I169I NM_053025 NP_444253 Q15746 MYLK_HUMAN myosin light chain kinase isoform 1 345 aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity ovary(6)|skin(2)|stomach(1) 9 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) CCTGCAGGGTGATGGAGCTGG 0.637 NA 7 116 0 0 0 0 SEC61A1 29927 broad.mit.edu 37 3 127786876 127786876 + Missense_Mutation SNP G G C TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr3:127786876G>C uc003ekb.2 + 11 1402 c.1218G>C c.(1216-1218)GAG>GAC p.E406D RUVBL1_uc003eke.2_Intron|RUVBL1_uc003ekf.2_Intron|SEC61A1_uc003ekc.2_Missense_Mutation_p.E353D|SEC61A1_uc003ekd.2_Missense_Mutation_p.E286D|SEC61A1_uc003ekg.2_Missense_Mutation_p.E100D NM_013336 NP_037468 P61619 S61A1_HUMAN Sec61 alpha 1 subunit 406 Cytoplasmic (Potential). protein targeting to ER integral to endoplasmic reticulum membrane P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding ovary(1) 1 GCCACCGAGAGACCTCCATGG 0.572 NA OREG0015775 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 74 0 0 0 0 ACAD9 28976 broad.mit.edu 37 3 128631364 128631364 + Missense_Mutation SNP C C G TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr3:128631364C>G uc003ela.3 + 18 1982 c.1780C>G c.(1780-1782)CTA>GTA p.L594V KIAA1257_uc003elg.1_Intron|ACAD9_uc011bks.1_Missense_Mutation_p.L471V|ACAD9_uc003elb.2_Missense_Mutation_p.L471V|ACAD9_uc003eld.1_RNA|ACAD9_uc003ele.2_Missense_Mutation_p.L246V|uc003elf.1_Intron NM_014049 NP_054768 Q9H845 ACAD9_HUMAN acyl-Coenzyme A dehydrogenase family, member 9 594 mitochondrion acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding ovary(2)|central_nervous_system(1) 3 TCCAGAAAACCTAGATGAGCA 0.502 NA 12 57 0 0 0 0 HLTF 6596 broad.mit.edu 37 3 148781309 148781309 + Missense_Mutation SNP C C T TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr3:148781309C>T uc003ewq.1 - 10 1287 c.1069G>A c.(1069-1071)GCA>ACA p.A357T HLTF_uc003ewr.1_Missense_Mutation_p.A357T|HLTF_uc003ews.1_Missense_Mutation_p.A357T|HLTF_uc010hve.1_Missense_Mutation_p.A357T NM_139048 NP_620636 Q14527 HLTF_HUMAN helicase-like transcription factor 357 chromatin modification|transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding ovary(1) 1 LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) CATCTAGATGCGTCTATTTCA 0.343 NA 5 58 0 0 0 0 SMC4 10051 broad.mit.edu 37 3 160149430 160149430 + Splice_Site SNP G G A TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr3:160149430G>A uc003fdh.2 + 21 3228 c.3115_splice c.e21-1 p.I1039_splice IFT80_uc003fda.2_Intron|SMC4_uc003fdi.2_Splice_Site_p.I1014_splice|SMC4_uc003fdj.2_Splice_Site_p.I1039_splice|SMC4_uc010hwd.2_Splice_Site_p.I981_splice|SMC4_uc003fdl.2_Splice_Site_p.I742_splice NM_001002800 NP_001002800 Q9NTJ3 SMC4_HUMAN SMC4 structural maintenance of chromosomes cell division|mitotic chromosome condensation condensin complex|cytoplasm|nucleus ATP binding|protein heterodimerization activity ovary(1)|breast(1) 2 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) TGAACTTTTAGATTTCAAAAA 0.313 NA 4 66 0 0 0 0 TTC14 151613 broad.mit.edu 37 3 180321060 180321060 + Silent SNP G G A TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr3:180321060G>A uc003fkk.2 + 3 567 c.435G>A c.(433-435)TTG>TTA p.L145L TTC14_uc003fkl.2_Silent_p.L145L|TTC14_uc003fkm.2_Silent_p.L145L NM_133462 NP_597719 Q96N46 TTC14_HUMAN tetratricopeptide repeat domain 14 isoform a 145 S1 motif. RNA binding ovary(1) 1 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) TCATGGTGTTGATCTGTTTAG 0.373 NA 5 88 0 0 0 0 FGFR3 2261 broad.mit.edu 37 4 1801486 1801486 + Missense_Mutation SNP C C T TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr4:1801486C>T uc003gdr.3 + 4 648 c.392C>T c.(391-393)TCG>TTG p.S131L FGFR3_uc003gdu.2_Missense_Mutation_p.S131L|FGFR3_uc003gds.3_Missense_Mutation_p.S131L|FGFR3_uc003gdq.3_Missense_Mutation_p.S131L|FGFR3_uc010icb.1_5'Flank|FGFR3_uc003gdt.1_5'Flank NM_000142 NP_000133 P22607 FGFR3_HUMAN fibroblast growth factor receptor 3 isoform 1 131 Extracellular (Potential). bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding p.S131L(1) urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1) 2600 Breast(71;0.212)|all_epithelial(65;0.241) all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234) Palifermin(DB00039) GCTCCATCCTCGGGAGATGAC 0.677 1 Mis|T IGH@|ETV6 bladder|MM|T-cell lymphoma Hypochondroplasia|Thanatophoric dysplasia Muenke_syndrome|Saethre-Chotzen_syndrome 5 40 0 0 0 0 CCKAR 886 broad.mit.edu 37 4 26490898 26490898 + Missense_Mutation SNP G G T TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr4:26490898G>T uc003gse.1 - 2 474 c.321C>A c.(319-321)TTC>TTA p.F107L NM_000730 NP_000721 P32238 CCKAR_HUMAN cholecystokinin A receptor 107 Extracellular (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient integral to plasma membrane cholecystokinin receptor activity lung(3)|pancreas(1) 4 Breast(46;0.0503) Ceruletide(DB00403) TCCCGAAGATGAAATCCTTGA 0.562 NA 7 115 8.13e-05 0.000305797 1 0 PDGFRA 5156 broad.mit.edu 37 4 55144560 55144560 + Missense_Mutation SNP C C G TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr4:55144560C>G uc003han.3 + 15 2365 c.2034C>G c.(2032-2034)TTC>TTG p.F678L PDGFRA_uc003haa.2_Missense_Mutation_p.F438L|PDGFRA_uc010igq.1_Missense_Mutation_p.F572L|PDGFRA_uc003ham.2_RNA|PDGFRA_uc003hao.1_Missense_Mutation_p.F57L NM_006206 NP_006197 P16234 PGFRA_HUMAN platelet-derived growth factor receptor alpha 678 Protein kinase.|Cytoplasmic (Potential). cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1) 674 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) AGTATTGCTTCTATGGAGATT 0.433 NA Mis|O|T FIP1L1 GIST|idiopathic hypereosinophilic syndrome Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis TSP Lung(21;0.16) 4 88 0 0 0 0 UGT2B11 10720 broad.mit.edu 37 4 70074139 70074139 + Missense_Mutation SNP G G A TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr4:70074139G>A uc003heh.2 - 3 941 c.932C>T c.(931-933)TCA>TTA p.S311L uc003hei.1_Intron NM_001073 NP_001064 O75310 UDB11_HUMAN UDP glucuronosyltransferase 2 family, 311 estrogen metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity ovary(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 3 ACTTATCACTGACCCCAGAGA 0.418 NA 19 189 0 0 0 0 USO1 8615 broad.mit.edu 37 4 76708301 76708301 + Silent SNP G G A TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr4:76708301G>A uc003hiu.2 + 9 1117 c.942G>A c.(940-942)CAG>CAA p.Q314Q USO1_uc003hiv.2_Silent_p.Q149Q|USO1_uc003hiw.2_Silent_p.Q149Q NM_003715 NP_003706 O60763 USO1_HUMAN USO1 homolog, vesicle docking protein 314 ARM 6.|Globular head. intracellular protein transport|vesicle fusion with Golgi apparatus cytosol|Golgi membrane protein binding|protein transporter activity ovary(2)|central_nervous_system(1) 3 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) GGTTATTGCAGCAGCTTTGTA 0.468 NA 7 104 0 0 0 0 NAP1L5 266812 broad.mit.edu 37 4 89618637 89618637 + Missense_Mutation SNP C C A TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr4:89618637C>A uc003hrx.2 - 1 387 c.269G>T c.(268-270)CGA>CTA p.R90L HERC3_uc003hrw.1_Intron|HERC3_uc011cdn.1_Intron|HERC3_uc011cdo.1_Intron NM_153757 NP_715638 Q96NT1 NP1L5_HUMAN nucleosome assembly protein 1-like 5 90 Potential. nucleosome assembly nucleus protein binding skin(1) 1 OV - Ovarian serous cystadenocarcinoma(123;0.000181) CTTATCGCATCGCTTCTGCAG 0.458 NA 12 119 6.4e-05 0.000241524 1 0 FAT4 79633 broad.mit.edu 37 4 126239528 126239528 + Missense_Mutation SNP C C G TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr4:126239528C>G uc003ifj.3 + 1 1962 c.1962C>G c.(1960-1962)TTC>TTG p.F654L NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 654 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 AGCAAGCCTTCTACTCCCTGT 0.517 NA 8 59 0 0 0 0 SLC7A11 23657 broad.mit.edu 37 4 139153472 139153472 + Missense_Mutation SNP G G C TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr4:139153472G>C uc011chb.1 - 3 749 c.469C>G c.(469-471)CAA>GAA p.Q157E NM_014331 NP_055146 Q9UPY5 XCT_HUMAN solute carrier family 7, (cationic amino acid 157 Extracellular (Potential). blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin integral to membrane|plasma membrane cystine:glutamate antiporter activity|protein binding skin(1) 1 all_hematologic(180;0.166) L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795) ATTTCACATTGAATAAAAAAT 0.368 NA 10 68 0 0 0 0 KIAA0922 23240 broad.mit.edu 37 4 154544100 154544100 + Missense_Mutation SNP G G A TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr4:154544100G>A uc003inm.3 + 29 3959 c.3907G>A c.(3907-3909)GAT>AAT p.D1303N KIAA0922_uc010ipp.2_Missense_Mutation_p.D1304N|KIAA0922_uc010ipq.2_Missense_Mutation_p.D1072N NM_015196 NP_056011 A2VDJ0 T131L_HUMAN hypothetical protein LOC23240 isoform 2 1303 Ser-rich.|Cytoplasmic (Potential). integral to membrane upper_aerodigestive_tract(1)|ovary(1) 2 all_hematologic(180;0.093) Renal(120;0.118) GTTCTGCTCCGATTCCAGCTC 0.562 NA 14 121 0 0 0 0 ODZ3 55714 broad.mit.edu 37 4 183713749 183713749 + Missense_Mutation SNP G G C TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr4:183713749G>C uc003ivd.1 + 25 5961 c.5924G>C c.(5923-5925)GGA>GCA p.G1975A NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN odz, odd Oz/ten-m homolog 3 1975 Extracellular (Potential).|YD 11. signal transduction integral to membrane 0 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) GAAACAGCAGGAGTCCTAAAG 0.408 NA 10 187 0 0 0 0 FAT1 2195 broad.mit.edu 37 4 187516868 187516868 + Missense_Mutation SNP G G C TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr4:187516868G>C uc003izf.2 - 26 13301 c.13113C>G c.(13111-13113)TTC>TTG p.F4371L FAT1_uc010isn.2_5'UTR|FAT1_uc003ize.2_Missense_Mutation_p.F262L NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 4371 Cytoplasmic (Potential). actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 ATTCGGACTGGAAGGAGCTCA 0.512 NA HNSCC(5;0.00058) 9 90 0 0 0 0 FAT1 2195 broad.mit.edu 37 4 187516881 187516881 + Missense_Mutation SNP G G C TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr4:187516881G>C uc003izf.2 - 26 13288 c.13100C>G c.(13099-13101)TCT>TGT p.S4367C FAT1_uc010isn.2_5'UTR|FAT1_uc003ize.2_Missense_Mutation_p.S258C NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 4367 Cytoplasmic (Potential). actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 GGAGCTCAGAGACTGCACTTC 0.517 NA HNSCC(5;0.00058) 10 90 0 0 0 0 FAT1 2195 broad.mit.edu 37 4 187630459 187630459 + Missense_Mutation SNP C C G TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr4:187630459C>G uc003izf.2 - 2 711 c.523G>C c.(523-525)GAT>CAT p.D175H FAT1_uc010iso.1_Missense_Mutation_p.D175H NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 175 Extracellular (Potential).|Cadherin 2. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 ATGTCTGCATCCGTGGCGCTG 0.433 NA HNSCC(5;0.00058) 20 162 0 0 0 0 SLC45A2 51151 broad.mit.edu 37 5 33963899 33963899 + Nonsense_Mutation SNP G G C TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr5:33963899G>C uc003jid.2 - 3 877 c.785C>G c.(784-786)TCA>TGA p.S262* SLC45A2_uc003jie.2_Nonsense_Mutation_p.S262*|SLC45A2_uc003jif.3_Intron|SLC45A2_uc011coe.1_Intron NM_016180 NP_057264 Q9UMX9 S45A2_HUMAN membrane-associated transporter protein isoform 262 Cytoplasmic (Potential). melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception integral to membrane|melanosome membrane ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 CATTCCATCTGATGACAATGG 0.443 NA 6 117 0 0 0 0 CMYA5 202333 broad.mit.edu 37 5 79026056 79026056 + Missense_Mutation SNP G G C TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr5:79026056G>C uc003kgc.2 + 2 1540 c.1468G>C c.(1468-1470)GAG>CAG p.E490Q NM_153610 NP_705838 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 490 Glu-rich. perinuclear region of cytoplasm ovary(6)|pancreas(2)|lung(1) 9 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) AAACATGCTTGAGCCATCCAT 0.458 NA 15 125 0 0 0 0 SLCO4C1 353189 broad.mit.edu 37 5 101597639 101597639 + Missense_Mutation SNP G G T TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr5:101597639G>T uc003knm.2 - 5 1285 c.998C>A c.(997-999)TCT>TAT p.S333Y NM_180991 NP_851322 Q6ZQN7 SO4C1_HUMAN solute carrier organic anion transporter family, 333 Helical; Name=6; (Potential). cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis basolateral plasma membrane|integral to membrane sodium-independent organic anion transmembrane transporter activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|pancreas(1) 4 all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486) Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986) TGGAAAGCAAGAAAAAGGTAT 0.368 NA 4 39 0.00024832 0.000926262 1 0 SLCO6A1 133482 broad.mit.edu 37 5 101724493 101724493 + Missense_Mutation SNP C C T TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr5:101724493C>T uc003knn.2 - 12 2088 c.1916G>A c.(1915-1917)GGA>GAA p.G639E SLCO6A1_uc003kno.2_Missense_Mutation_p.G386E|SLCO6A1_uc003knp.2_Missense_Mutation_p.G639E|SLCO6A1_uc003knq.2_Missense_Mutation_p.G577E NM_173488 NP_775759 Q86UG4 SO6A1_HUMAN solute carrier organic anion transporter family, 639 Helical; Name=11; (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) AGAAGTTTCTCCTGACATTTT 0.323 NA 5 22 0 0 0 0 CSF2 1437 broad.mit.edu 37 5 131411512 131411512 + Silent SNP C C T TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr5:131411512C>T uc003kwf.2 + 4 434 c.402C>T c.(400-402)ATC>ATT p.I134I NM_000758 NP_000749 P04141 CSF2_HUMAN colony stimulating factor 2 precursor 134 immune response|negative regulation of cytolysis|positive regulation of DNA replication|positive regulation of interleukin-23 production|positive regulation of macrophage derived foam cell differentiation|positive regulation of podosome assembly|positive regulation of tyrosine phosphorylation of Stat5 protein extracellular space cytokine activity|granulocyte macrophage colony-stimulating factor receptor binding|growth factor activity 0 all_cancers(142;4.28e-07)|all_lung(232;2.81e-05)|Lung NSC(810;0.000693)|Lung SC(612;0.122)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Sargramostim(DB00020) TGCTTGTCATCCCCTTTGACT 0.463 NA 5 115 0 0 0 0 PCDHA9 9752 broad.mit.edu 37 5 140229699 140229699 + Missense_Mutation SNP C C T TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr5:140229699C>T uc003lhu.2 + 1 2343 c.1619C>T c.(1618-1620)GCG>GTG p.A540V PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Missense_Mutation_p.A540V NM_031857 NP_114063 Q9Y5H5 PCDA9_HUMAN protocadherin alpha 9 isoform 1 precursor 540 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding large_intestine(2)|ovary(2)|skin(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGCGCGACGCGGGCGTGCCG 0.667 NA 20 154 0 0 0 0 PCDHA13 56136 broad.mit.edu 37 5 140264038 140264038 + Missense_Mutation SNP G G A TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr5:140264038G>A uc003lif.2 + 1 2185 c.2185G>A c.(2185-2187)GAG>AAG p.E729K PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.E729K|PCDHA13_uc003lid.2_Missense_Mutation_p.E729K NM_018904 NP_061727 Q9Y5I0 PCDAD_HUMAN protocadherin alpha 13 isoform 1 precursor 729 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|skin(2)|central_nervous_system(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACCGCCCACCGAGGGCGCGTG 0.647 NA 6 125 0 0 0 0 PCDHAC1 56135 broad.mit.edu 37 5 140306523 140306523 + Missense_Mutation SNP G G A TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr5:140306523G>A uc003lih.2 + 1 222 c.46G>A c.(46-48)GGC>AGC p.G16S PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lig.1_Missense_Mutation_p.G16S NM_018898 NP_061721 Q9H158 PCDC1_HUMAN protocadherin alpha subfamily C, 1 isoform 1 16 homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding skin(3)|ovary(2) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGTTTCCTGCGGCGCTGCAGC 0.642 NA 5 47 0 0 0 0 PCDHGA4 56111 broad.mit.edu 37 5 140734878 140734878 + Missense_Mutation SNP G G T TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr5:140734878G>T uc003ljq.1 + 1 111 c.111G>T c.(109-111)GAG>GAT p.E37D PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljp.1_Missense_Mutation_p.E37D NM_018917 NP_061740 Q9Y5G9 PCDG4_HUMAN protocadherin gamma subfamily A, 4 isoform 1 37 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGGTGTTTGAGGAGCAGGAAG 0.632 NA 10 80 7.48e-07 2.86e-06 1 0 HIST1H2BB 3018 broad.mit.edu 37 6 26043604 26043604 + Silent SNP C C T TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr6:26043604C>T uc003nfu.2 - 1 282 c.282G>A c.(280-282)GAG>GAA p.E94E HIST1H3C_uc003nfv.2_5'Flank NM_021062 NP_066406 P33778 H2B1B_HUMAN histone cluster 1, H2bb 94 nucleosome assembly nucleosome|nucleus DNA binding 0 CCGTCTGAATCTCCCTGGAGG 0.562 NA 5 99 0 0 0 0 PPP1R10 5514 broad.mit.edu 37 6 30571943 30571943 + Silent SNP C C T TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr6:30571943C>T uc003nqn.1 - 14 1902 c.1350G>A c.(1348-1350)CTG>CTA p.L450L PPP1R10_uc010jsc.1_Silent_p.L104L NM_002714 NP_002705 Q96QC0 PP1RA_HUMAN protein phosphatase 1, regulatory subunit 10 450 Essential for PPP1CA inhibition (By similarity).|Interaction with WDR82 (By similarity). protein import into nucleus|transcription, DNA-dependent PTW/PP1 phosphatase complex DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding ovary(2)|lung(1)|kidney(1) 4 TATCATGGCTCAGACGCCGCG 0.562 NA 11 158 0 0 0 0 IP6K3 117283 broad.mit.edu 37 6 33693275 33693275 + Missense_Mutation SNP C C G TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr6:33693275C>G uc010jvf.2 - 6 1244 c.708G>C c.(706-708)ATG>ATC p.M236I IP6K3_uc003ofb.2_Missense_Mutation_p.M236I NM_001142883 NP_001136355 Q96PC2 IP6K3_HUMAN inositol hexakisphosphate kinase 3 236 inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation cytoplasm ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity 0 CACACTTCCTCATGTGGCGGG 0.632 NA 4 40 0 0 0 0 DAAM2 23500 broad.mit.edu 37 6 39843215 39843215 + Silent SNP G G A TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr6:39843215G>A uc003oow.2 + 11 1428 c.1272G>A c.(1270-1272)GAG>GAA p.E424E DAAM2_uc010jxc.2_Silent_p.E424E|DAAM2_uc003oox.2_Silent_p.E424E NM_015345 NP_056160 Q86T65 DAAM2_HUMAN dishevelled associated activator of 424 actin cytoskeleton organization actin binding|Rho GTPase binding ovary(2)|skin(1) 3 Ovarian(28;0.0355)|Colorectal(47;0.196) CTCCCTTGGAGAACTTCAATG 0.577 NA 11 79 0 0 0 0 CUL7 9820 broad.mit.edu 37 6 43006181 43006181 + Missense_Mutation SNP C C T TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr6:43006181C>T uc003otq.2 - 25 4900 c.4597G>A c.(4597-4599)GAA>AAA p.E1533K CUL7_uc010jyg.2_Missense_Mutation_p.E812K|CUL7_uc011dvb.1_Missense_Mutation_p.E1617K|CUL7_uc010jyh.2_Missense_Mutation_p.E526K|KLC4_uc003otr.1_5'Flank NM_014780 NP_055595 Q14999 CUL7_HUMAN cullin 7 1533 interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis anaphase-promoting complex|mitochondrion ubiquitin protein ligase binding ovary(3)|kidney(1) 4 all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) GACCTGGGTTCCTTGCTGCCA 0.567 NA 4 62 0 0 0 0 SMAP1 60682 broad.mit.edu 37 6 71562302 71562302 + Missense_Mutation SNP G G A TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr6:71562302G>A uc003pfr.2 + 8 972 c.724G>A c.(724-726)GAT>AAT p.D242N SMAP1_uc003pfs.2_Missense_Mutation_p.D215N|SMAP1_uc010kao.2_Missense_Mutation_p.D215N|SMAP1_uc010kap.2_Missense_Mutation_p.D232N NM_001044305 NP_001037770 Q8IYB5 SMAP1_HUMAN stromal membrane-associated GTPase-activating 242 regulation of ARF GTPase activity plasma membrane ARF GTPase activator activity|zinc ion binding 0 CCTGAACGATGATCTGGACAT 0.458 NA 10 134 0 0 0 0 C6orf204 387119 broad.mit.edu 37 6 118812872 118812872 + Missense_Mutation SNP C C T TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr6:118812872C>T uc003pxz.1 - 6 2002 c.1414G>A c.(1414-1416)GAG>AAG p.E472K C6orf204_uc003pya.1_Missense_Mutation_p.E475K|C6orf204_uc003pyb.2_Missense_Mutation_p.E472K|C6orf204_uc011ebj.1_Missense_Mutation_p.E370K|C6orf204_uc003pyc.2_Missense_Mutation_p.E475K NM_001042475 NP_001035940 Q5SZL2 CF204_HUMAN chromosome 6 open reading frame 204 isoform a 472 Potential. centrosome breast(1) 1 all_cancers(87;0.0814)|all_epithelial(87;0.115) GBM - Glioblastoma multiforme(226;0.0114)|all cancers(137;0.035)|OV - Ovarian serous cystadenocarcinoma(136;0.0618) TTCTTCTTCTCTTCACTAAAT 0.338 NA 4 21 0 0 0 0 LAMA2 3908 broad.mit.edu 37 6 129419471 129419471 + Missense_Mutation SNP C C T TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr6:129419471C>T uc003qbn.2 + 4 655 c.550C>T c.(550-552)CCC>TCC p.P184S LAMA2_uc003qbo.2_Missense_Mutation_p.P184S NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 184 Laminin N-terminal. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|breast(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) CAATATTTATCCCCGCACTGG 0.448 NA 10 68 0 0 0 0 RAC1 5879 broad.mit.edu 37 7 6431563 6431563 + Missense_Mutation SNP A A G TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr7:6431563A>G uc003spx.2 + 3 357 c.116A>G c.(115-117)AAT>AGT p.N39S RAC1_uc003spw.2_Missense_Mutation_p.N39S NM_006908 NP_008839 P63000 RAC1_HUMAN ras-related C3 botulinum toxin substrate 1 39 Effector region (Potential). actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction cytosol|melanosome|plasma membrane GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding lung(2) 2 Ovarian(82;0.0776) UCEC - Uterine corpus endometrioid carcinoma (126;0.104) Pravastatin(DB00175)|Simvastatin(DB00641) AGCTTTGACAATTATTCTGCC 0.438 NA 4 64 0 0 0 0 RAC1 5879 broad.mit.edu 37 7 6441974 6441974 + Missense_Mutation SNP C C T TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr7:6441974C>T uc003spx.2 + 6 717 c.476C>T c.(475-477)GCG>GTG p.A159V RAC1_uc003spw.2_Missense_Mutation_p.A178V NM_006908 NP_008839 P63000 RAC1_HUMAN ras-related C3 botulinum toxin substrate 1 159 actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction cytosol|melanosome|plasma membrane GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding lung(2) 2 Ovarian(82;0.0776) UCEC - Uterine corpus endometrioid carcinoma (126;0.104) Pravastatin(DB00175)|Simvastatin(DB00641) GAGTGCTCGGCGCTCACACAG 0.567 NA 6 79 0 0 0 0 GLI3 2737 broad.mit.edu 37 7 42084994 42084994 + Missense_Mutation SNP T T A TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr7:42084994T>A uc011kbh.1 - 6 906 c.815A>T c.(814-816)CAT>CTT p.H272L GLI3_uc011kbg.1_Missense_Mutation_p.H213L NM_000168 NP_000159 P10071 GLI3_HUMAN GLI-Kruppel family member GLI3 272 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1) 19 ATCCATAGCATGAAGATATTC 0.502 NA Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome 23 217 0 0 0 0 DTX2 113878 broad.mit.edu 37 7 76109854 76109854 + Missense_Mutation SNP G G T TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr7:76109854G>T uc003uff.3 + 4 584 c.28G>T c.(28-30)GTG>TTG p.V10L DTX2_uc011kgk.1_Intron|DTX2_uc003ufg.3_Missense_Mutation_p.V10L|DTX2_uc003ufh.3_Missense_Mutation_p.V10L|DTX2_uc003ufj.3_Missense_Mutation_p.V10L NM_020892 NP_065943 Q86UW9 DTX2_HUMAN deltex 2 isoform a 10 WWE 1. Notch signaling pathway cytoplasm|nucleus protein binding|zinc ion binding ovary(1)|skin(1) 2 CCCTTCCCTGGTGCAGGTGTA 0.657 NA 4 31 0.00024832 0.000926262 1 0 DMTF1 9988 broad.mit.edu 37 7 86815200 86815200 + Missense_Mutation SNP G G A TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr7:86815200G>A uc003uih.2 + 12 1431 c.1105G>A c.(1105-1107)GAG>AAG p.E369K DMTF1_uc003uii.2_Missense_Mutation_p.E103K|DMTF1_uc003uij.2_Missense_Mutation_p.E103K|DMTF1_uc011khb.1_Missense_Mutation_p.E281K|DMTF1_uc003uik.2_RNA|DMTF1_uc003uil.2_Missense_Mutation_p.E369K|DMTF1_uc003uin.2_Missense_Mutation_p.E103K NM_001142327 NP_001135799 Q9Y222 DMTF1_HUMAN cyclin D binding myb-like transcription factor 1 369 Interaction with CCND1, CCND2 and CCND3 (By similarity).|Required for DNA-binding (By similarity).|Myb-like 2. cell cycle cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1) 2 Esophageal squamous(14;0.0058) TCTGTTAGCTGAGGGATGGAG 0.393 NA 10 69 0 0 0 0 GIGYF1 64599 broad.mit.edu 37 7 100281196 100281196 + Missense_Mutation SNP C C G TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr7:100281196C>G uc003uwg.1 - 17 3038 c.2029G>C c.(2029-2031)GAA>CAA p.E677Q NM_022574 NP_072096 O75420 PERQ1_HUMAN PERQ amino acid rich, with GYF domain 1 677 large_intestine(1)|central_nervous_system(1) 2 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) TGGAGTTGTTCTAGAATTGGA 0.612 NA 10 158 0 0 0 0 SRRT 51593 broad.mit.edu 37 7 100482943 100482943 + Silent SNP C C G TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr7:100482943C>G uc003uwy.2 + 11 1537 c.1269C>G c.(1267-1269)CTC>CTG p.L423L SRRT_uc010lhl.1_Silent_p.L422L|SRRT_uc003uxa.2_Silent_p.L422L|SRRT_uc003uwz.2_Silent_p.L423L NM_015908 NP_056992 Q9BXP5 SRRT_HUMAN arsenate resistance protein 2 isoform a 423 cell proliferation|primary miRNA processing|response to arsenic-containing substance cytoplasm|nucleoplasm protein binding ovary(2) 2 CCTGCTCCCTCTTCATGCGCA 0.622 NA 6 61 0 0 0 0 SRRT 51593 broad.mit.edu 37 7 100483972 100483972 + Missense_Mutation SNP C C G TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr7:100483972C>G uc003uwy.2 + 14 1831 c.1563C>G c.(1561-1563)ATC>ATG p.I521M SRRT_uc010lhl.1_Missense_Mutation_p.I520M|SRRT_uc003uxa.2_Missense_Mutation_p.I520M|SRRT_uc003uwz.2_Missense_Mutation_p.I521M NM_015908 NP_056992 Q9BXP5 SRRT_HUMAN arsenate resistance protein 2 isoform a 521 cell proliferation|primary miRNA processing|response to arsenic-containing substance cytoplasm|nucleoplasm protein binding ovary(2) 2 GCAACGACATCAAGCTGGCGG 0.617 NA 7 41 0 0 0 0 LHFPL3 375612 broad.mit.edu 37 7 104377175 104377175 + Missense_Mutation SNP G G A TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr7:104377175G>A uc003vce.2 + 2 623 c.499G>A c.(499-501)GAA>AAA p.E167K LHFPL3_uc003vcf.2_Missense_Mutation_p.E167K NM_199000 NP_945351 Q86UP9 LHPL3_HUMAN lipoma HMGIC fusion partner-like 3 153 integral to membrane 0 GGACTCAGATGAAGTAAAACG 0.443 NA 5 33 0 0 0 0 MKRN1 23608 broad.mit.edu 37 7 140154936 140154936 + Missense_Mutation SNP C C G TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr7:140154936C>G uc003vvt.2 - 7 1420 c.1195G>C c.(1195-1197)GAG>CAG p.E399Q MKRN1_uc003vvs.2_Missense_Mutation_p.E335Q|MKRN1_uc011krd.1_Missense_Mutation_p.E133Q NM_013446 NP_038474 Q9UHC7 MKRN1_HUMAN makorin ring finger protein 1 isoform 1 399 ligase activity|nucleic acid binding|protein binding|zinc ion binding ovary(1) 1 Melanoma(164;0.00956) CTCTGTGGCTCCTCTCTACGG 0.488 NA 12 158 0 0 0 0 INTS10 55174 broad.mit.edu 37 8 19683985 19683985 + Missense_Mutation SNP C C T TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr8:19683985C>T uc003wzj.2 + 9 1186 c.1055C>T c.(1054-1056)TCG>TTG p.S352L NM_018142 NP_060612 Q9NVR2 INT10_HUMAN integrator complex subunit 10 352 snRNA processing integrator complex protein binding ovary(1) 1 Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215) GAAGATGTATCGAATGTGTAT 0.398 NA 13 101 0 0 0 0 NRG1 3084 broad.mit.edu 37 8 32621346 32621346 + Missense_Mutation SNP C C T TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr8:32621346C>T uc003xiv.2 + 12 1866 c.1349C>T c.(1348-1350)TCG>TTG p.S450L NRG1_uc010lvo.2_3'UTR|NRG1_uc003xiu.2_Missense_Mutation_p.S455L|NRG1_uc003xiw.2_Missense_Mutation_p.S447L|NRG1_uc003xit.2_3'UTR|NRG1_uc010lvr.2_Missense_Mutation_p.S192L|NRG1_uc010lvs.2_Missense_Mutation_p.S192L|NRG1_uc010lvp.2_Missense_Mutation_p.S404L|NRG1_uc010lvq.2_Missense_Mutation_p.S387L|NRG1_uc011lbg.1_3'UTR|NRG1_uc011lbh.1_Missense_Mutation_p.S293L|NRG1_uc003xja.2_Missense_Mutation_p.S261L NM_013964 NP_039258 Q02297 NRG1_HUMAN neuregulin 1 isoform HRG-alpha 450 Cytoplasmic (Potential). activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing|wound healing apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane cytokine activity|ErbB-3 class receptor binding|growth factor activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity 0 Breast(100;0.203) KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943) TCGCCCCCTTCGGAAATGTCT 0.562 NA 11 124 0 0 0 0 FAM135B 51059 broad.mit.edu 37 8 139164247 139164247 + Missense_Mutation SNP C C A TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr8:139164247C>A uc003yuy.2 - 13 2642 c.2471G>T c.(2470-2472)GGA>GTA p.G824V FAM135B_uc003yux.2_Missense_Mutation_p.G725V|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.G386V|FAM135B_uc003yvb.2_Missense_Mutation_p.G386V NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 824 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) ATGGTCTGCTCCAGCATCTGT 0.507 NA HNSCC(54;0.14) 7 76 1.13e-05 4.28e-05 1 0 TAF1L 138474 broad.mit.edu 37 9 32632475 32632475 + Missense_Mutation SNP C C T TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr9:32632475C>T uc003zrg.1 - 1 3193 c.3103G>A c.(3103-3105)GAG>AAG p.E1035K uc003zrh.1_5'Flank NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN TBP-associated factor RNA polymerase 1-like 1035 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1) 26 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) TTTTTAATCTCTTCCTCAGGC 0.488 NA 22 234 0 0 0 0 TGFBR1 7046 broad.mit.edu 37 9 101910003 101910003 + Missense_Mutation SNP G G C TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr9:101910003G>C uc004azc.2 + 8 1399 c.1323G>C c.(1321-1323)ATG>ATC p.M441I TGFBR1_uc004azd.2_Missense_Mutation_p.M364I|TGFBR1_uc011lvc.1_Missense_Mutation_p.M372I NM_004612 NP_004603 P36897 TGFR1_HUMAN transforming growth factor, beta receptor I 441 Protein kinase.|Cytoplasmic (Potential). activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding lung(2)|ovary(1) 3 Acute lymphoblastic leukemia(62;0.0559) TTGAAGAAATGAGAAAAGTTG 0.323 NA 7 55 0 0 0 0 IKBKAP 8518 broad.mit.edu 37 9 111670656 111670656 + Silent SNP C C T TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr9:111670656C>T uc004bdm.3 - 13 1909 c.1389G>A c.(1387-1389)GTG>GTA p.V463V IKBKAP_uc004bdl.2_Silent_p.V114V|IKBKAP_uc011lwc.1_Silent_p.V349V|IKBKAP_uc010mtq.2_Silent_p.V114V NM_003640 NP_003631 O95163 ELP1_HUMAN inhibitor of kappa light polypeptide gene 463 immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex phosphorylase kinase regulator activity|protein binding|signal transducer activity ovary(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1) 7 CTCCCAGTTTCACTGTAGGGT 0.388 NA 4 45 0 0 0 0 TNFSF8 944 broad.mit.edu 37 9 117692466 117692466 + Missense_Mutation SNP A A G TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr9:117692466A>G uc004bji.1 - 1 305 c.118T>C c.(118-120)TAT>CAT p.Y40H NM_001244 NP_001235 P32971 TNFL8_HUMAN tumor necrosis factor (ligand) superfamily, 40 Helical; Signal-anchor for type II membrane protein; (Potential). cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction extracellular space|integral to plasma membrane cytokine activity|tumor necrosis factor receptor binding lung(3)|skin(2)|ovary(1) 6 GTGGTCAAATAGAAATAGCTG 0.597 NA 13 114 0 0 0 0 METTL11A 28989 broad.mit.edu 37 9 132397708 132397708 + Missense_Mutation SNP G G C TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr9:132397708G>C uc004byd.1 + 4 831 c.637G>C c.(637-639)GAG>CAG p.E213Q METTL11A_uc010myw.1_RNA|METTL11A_uc011mbs.1_3'UTR|ASB6_uc004bye.1_3'UTR|ASB6_uc004byf.1_3'UTR|ASB6_uc004byg.1_3'UTR|ASB6_uc011mbt.1_3'UTR|ASB6_uc010myx.1_3'UTR NM_014064 NP_054783 Q9BV86 NTM1A_HUMAN methyltransferase like 11A 213 chromosome segregation|N-terminal peptidyl-proline dimethylation|N-terminal peptidyl-serine dimethylation|N-terminal peptidyl-serine trimethylation|spindle organization nucleus protein binding|protein methyltransferase activity 0 CCTCCCCGATGAGATCTACCA 0.627 NA 7 119 0 0 0 0 GPR107 57720 broad.mit.edu 37 9 132854657 132854657 + Missense_Mutation SNP G G A TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr9:132854657G>A uc004bze.2 + 9 1087 c.860G>A c.(859-861)CGA>CAA p.R287Q GPR107_uc004bzb.2_Missense_Mutation_p.R98Q|GPR107_uc004bzc.3_RNA|GPR107_uc011mbx.1_Missense_Mutation_p.R287Q|GPR107_uc004bzd.2_Missense_Mutation_p.R287Q NM_001136557 NP_001130029 Q5VW38 GP107_HUMAN G protein-coupled receptor 107 isoform 1 287 integral to membrane upper_aerodigestive_tract(1) 1 Ovarian(14;0.000531) CTTCGAAAACGACGGTAAACT 0.418 NA 6 71 0 0 0 0 GTF3C4 9329 broad.mit.edu 37 9 135554308 135554308 + Missense_Mutation SNP G G C TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr9:135554308G>C uc010mzv.2 + 2 1560 c.1302G>C c.(1300-1302)CAG>CAC p.Q434H GTF3C4_uc010mzw.2_RNA NM_012204 NP_036336 Q9UKN8 TF3C4_HUMAN general transcription factor IIIC 4 434 transcription initiation from RNA polymerase III promoter transcription factor TFIIIC complex DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding ovary(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05) CAGACAAACAGAATGGAACAG 0.453 NA 4 102 0 0 0 0 NOTCH1 4851 broad.mit.edu 37 9 139412282 139412282 + Missense_Mutation SNP C C T TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr9:139412282C>T uc004chz.2 - 8 1363 c.1363G>A c.(1363-1365)GAG>AAG p.E455K NM_017617 NP_060087 P46531 NOTC1_HUMAN notch1 preproprotein 455 Extracellular (Potential).|EGF-like 12; calcium-binding (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1) 856 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) GAGACGCACTCGTTGACGTCG 0.667 NA T|Mis|O TRB@ T-ALL HNSCC(8;0.001) 15 51 0 0 0 0 FAM48B2 170067 broad.mit.edu 37 X 24330433 24330433 + Missense_Mutation SNP C C G TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chrX:24330433C>G uc011mjw.1 - 1 1000 c.1000G>C c.(1000-1002)GAA>CAA p.E334Q NM_001136233 NP_001129705 P0C7V6 F48B2_HUMAN family with sequence similarity 48, member B2 334 0 AAAGGGTCTTCTACCTCCTGG 0.537 NA 15 186 0 0 0 0 PHF16 9767 broad.mit.edu 37 X 46887308 46887308 + Missense_Mutation SNP G G A TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chrX:46887308G>A uc004dgx.2 + 6 541 c.490G>A c.(490-492)GAT>AAT p.D164N PHF16_uc004dgy.2_Missense_Mutation_p.D164N NM_001077445 NP_001070913 Q92613 JADE3_HUMAN PHD finger protein 16 164 histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex zinc ion binding 0 TGGGCCAGTTGATGAGAATCT 0.458 NA 8 61 0 0 0 0 SPIN3 169981 broad.mit.edu 37 X 57020780 57020780 + Missense_Mutation SNP C C T TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chrX:57020780C>T uc010nkj.2 - 2 887 c.601G>A c.(601-603)GAG>AAG p.E201K SPIN3_uc004duu.3_Intron|SPIN3_uc004duw.3_Intron|SPIN3_uc004duv.3_Intron|SPIN3_uc004dux.1_Missense_Mutation_p.E201K NM_001010862 NP_001010862 Q5JUX0 SPIN3_HUMAN spindlin family, member 3 201 gamete generation ovary(1)|central_nervous_system(1) 2 TCTCCTGGCTCCCTCTCTGCC 0.463 NA 11 63 0 0 0 0 HEPH 9843 broad.mit.edu 37 X 65486458 65486458 + Missense_Mutation SNP C C T TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chrX:65486458C>T uc011moz.1 + 21 3490 c.3430C>T c.(3430-3432)CGC>TGC p.R1144C HEPH_uc004dwn.2_Missense_Mutation_p.R1143C|HEPH_uc004dwo.2_Missense_Mutation_p.R874C|HEPH_uc010nkr.2_Missense_Mutation_p.R952C|HEPH_uc011mpa.1_Missense_Mutation_p.R1144C NM_138737 NP_620074 Q9BQS7 HEPH_HUMAN hephaestin isoform a 1141 Cytoplasmic (Potential). cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity lung(5)|ovary(4) 9 AAAGCTACGACGCAATAGGAG 0.498 NA 5 48 0 0 0 0 XKRX 402415 broad.mit.edu 37 X 100177939 100177939 + Silent SNP C C G TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chrX:100177939C>G uc004egn.2 - 2 1052 c.447G>C c.(445-447)CTG>CTC p.L149L XKRX_uc011mre.1_Intron NM_212559 NP_997724 Q6PP77 XKR2_HUMAN XK, Kell blood group complex subunit-related, 149 integral to membrane|plasma membrane breast(1) 1 CCCATTCTATCAGCACCTCCT 0.547 NA 6 157 0 0 0 0 GRIA3 2892 broad.mit.edu 37 X 122551330 122551330 + Missense_Mutation SNP G G C TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chrX:122551330G>C uc004etq.3 + 12 1871 c.1578G>C c.(1576-1578)ATG>ATC p.M526I GRIA3_uc004etr.3_Missense_Mutation_p.M526I|GRIA3_uc004ets.3_RNA|GRIA3_uc011muf.1_Missense_Mutation_p.M510I NM_007325 NP_015564 P42263 GRIA3_HUMAN glutamate receptor, ionotrophic, AMPA 3 isoform 526 Extracellular (Potential). glutamate signaling pathway|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 L-Glutamic Acid(DB00142) AGCCATTCATGAGCCTGGGCA 0.398 NA 9 217 0 0 0 0 THOC2 57187 broad.mit.edu 37 X 122747943 122747943 + Missense_Mutation SNP C C T TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chrX:122747943C>T uc004etu.2 - 34 4441 c.4409G>A c.(4408-4410)AGA>AAA p.R1470K THOC2_uc010nqt.1_RNA|THOC2_uc004etw.1_Missense_Mutation_p.R291K NM_001081550 NP_001075019 Q8NI27 THOC2_HUMAN THO complex 2 1470 Lys-rich.|Potential. intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing THO complex part of transcription export complex protein binding|RNA binding ovary(3) 3 TTTTTTCTCTCTTTCTCTGGA 0.378 NA 8 111 0 0 0 0 MAGEC1 9947 broad.mit.edu 37 X 140993500 140993500 + Missense_Mutation SNP G G C TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chrX:140993500G>C uc004fbt.2 + 4 596 c.310G>C c.(310-312)GAG>CAG p.E104Q MAGEC1_uc010nsl.1_Intron NM_005462 NP_005453 O60732 MAGC1_HUMAN melanoma antigen family C, 1 104 protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) GAGTTCTCCTGAGGGGAAGGA 0.562 NA HNSCC(15;0.026) 11 130 0 0 0 0 ABCD1 215 broad.mit.edu 37 X 153006171 153006171 + Missense_Mutation SNP G G C TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chrX:153006171G>C uc004fif.2 + 7 2177 c.1778G>C c.(1777-1779)GGA>GCA p.G593A ABCD1_uc004fig.2_Missense_Mutation_p.G93A|ABCD1_uc004fih.2_5'Flank NM_000033 NP_000024 P33897 ABCD1_HUMAN ATP-binding cassette, sub-family D (ALD), member 593 ABC transporter. fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization cytosol|integral to peroxisomal membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity 0 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CAGCGGGAGGGAGGTAGGAGG 0.612 NA 10 71 0 0 0 0 NR3C1 2908 broad.mit.edu 37 5 142780167 142780178 + In_Frame_Del DEL TGGACAGATCTG TGGACAGATCTG - TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4f6ee10b-246d-49cd-8b60-01dcb175e634 2daef6fc-3028-4843-a302-e38d33d7461f g.chr5:142780167_142780178delTGGACAGATCTG uc003lmz.2 - 2 719_730 c.227_238delCAGATCTGTCCA c.(226-240)CCAGATCTGTCCAAA>CAA p.76_80PDLSK>Q NR3C1_uc003lmy.2_In_Frame_Del_p.76_80PDLSK>Q|NR3C1_uc003lna.2_In_Frame_Del_p.76_80PDLSK>Q|NR3C1_uc003lnb.2_In_Frame_Del_p.76_80PDLSK>Q|NR3C1_uc011dbk.1_Intron|NR3C1_uc003lnc.2_In_Frame_Del_p.76_80PDLSK>Q|NR3C1_uc003lnd.2_In_Frame_Del_p.76_80PDLSK>Q|NR3C1_uc003lne.2_In_Frame_Del_p.76_80PDLSK>Q|NR3C1_uc003lnf.2_In_Frame_Del_p.76_80PDLSK>Q|NR3C1_uc003lng.2_In_Frame_Del_p.76_80PDLSK>Q|NR3C1_uc003lnh.2_In_Frame_Del_p.76_80PDLSK>Q|NR3C1_uc003lni.2_In_Frame_Del_p.76_80PDLSK>Q NM_000176 NP_000167 P04150 GCR_HUMAN glucocorticoid receptor isoform alpha 76_80 Modulating. chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter mitochondrial matrix|nucleoplasm glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding ovary(2) 2 Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361) KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176) Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635) GAAACTGCTTTGGACAGATCTGGCTGCTGCGC 0.491 NA 13 166 --- --- --- --- NA NA NA NA