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 TNFRSF25 8718 broad.mit.edu 37 1 6522120 6522120 + Nonsense_Mutation SNP C A A TCGA-06-0166-01A-01D-1491-08 TCGA-06-0166-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 70157018-a3c5-4ef8-9314-f8715a3438a4 57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0 g.chr1:6522120C>A uc001ane.2 - 9 947 c.859G>T c.(859-861)GAG>TAG p.E287* TNFRSF25_uc001ana.2_Nonsense_Mutation_p.E104*|TNFRSF25_uc001anb.2_RNA|TNFRSF25_uc001anc.2_RNA|TNFRSF25_uc001and.2_Nonsense_Mutation_p.E60*|TNFRSF25_uc009vlz.2_RNA|TNFRSF25_uc001anf.2_Nonsense_Mutation_p.E250*|TNFRSF25_uc001ang.2_Nonsense_Mutation_p.E242*|TNFRSF25_uc001anh.2_Nonsense_Mutation_p.E296* NM_003790 NP_003781 Q93038 TNR25_HUMAN tumor necrosis factor receptor superfamily, 287 Cytoplasmic (Potential). apoptosis|induction of apoptosis by extracellular signals cytosol|extracellular region|integral to plasma membrane tumor necrosis factor receptor activity central_nervous_system(2)|breast(1) 3 Ovarian(185;0.0386)|all_lung(157;0.154) all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Acute lymphoblastic leukemia(12;0.00157)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448) Epithelial(90;4.58e-35)|GBM - Glioblastoma multiforme(13;3.06e-27)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00158)|READ - Rectum adenocarcinoma(331;0.0419) TCCTGGGTCTCGGGGTAGCCA 0.627 LPHN2 23266 broad.mit.edu 37 1 82456163 82456163 + Missense_Mutation SNP G C C TCGA-06-0166-01A-01D-1491-08 TCGA-06-0166-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 70157018-a3c5-4ef8-9314-f8715a3438a4 57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0 g.chr1:82456163G>C uc001dit.3 + 21 3727 c.3546G>C c.(3544-3546)AAG>AAC p.K1182N LPHN2_uc001dis.2_Missense_Mutation_p.K162N|LPHN2_uc001diu.2_Missense_Mutation_p.K1182N|LPHN2_uc001div.2_3'UTR|LPHN2_uc009wcd.2_3'UTR|LPHN2_uc001diw.2_Missense_Mutation_p.K809N NM_012302 NP_036434 O95490 LPHN2_HUMAN latrophilin 2 precursor 1238 Cytoplasmic (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding ovary(3)|lung(3)|breast(2)|central_nervous_system(1) 9 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) CGCTGCACAAGGGTGACTATA 0.413 PEX19 5824 broad.mit.edu 37 1 160254853 160254853 + Missense_Mutation SNP A G G TCGA-06-0166-01A-01D-1491-08 TCGA-06-0166-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 70157018-a3c5-4ef8-9314-f8715a3438a4 57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0 g.chr1:160254853A>G uc001fvs.2 - 1 89 c.62T>C c.(61-63)CTT>CCT p.L21P DCAF8_uc010pjc.1_5'UTR|PEX19_uc010pje.1_RNA|PEX19_uc001fvt.2_5'UTR NM_002857 NP_002848 P40855 PEX19_HUMAN peroxisomal biogenesis factor 19 isoform a 21 Necessary for PEX19 function on peroxisome biogenesis.|Docking to the peroxisome membrane and binding to PEX3. peroxisome membrane biogenesis|peroxisome organization|protein targeting to peroxisome|transmembrane transport brush border membrane|cytosol|integral to membrane|nucleus|peroxisomal membrane protein binding|protein N-terminus binding 0 all_cancers(52;1.27e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) ACTTTCCAGAAGCTCCTCCAA 0.597 ARID4B 51742 broad.mit.edu 37 1 235345301 235345301 + Missense_Mutation SNP C T T TCGA-06-0166-01A-01D-1491-08 TCGA-06-0166-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 70157018-a3c5-4ef8-9314-f8715a3438a4 57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0 g.chr1:235345301C>T uc001hwq.2 - 20 3431 c.2933G>A c.(2932-2934)TGT>TAT p.C978Y ARID4B_uc001hwr.2_Missense_Mutation_p.C892Y|ARID4B_uc001hws.3_Missense_Mutation_p.C892Y|ARID4B_uc001hwp.2_RNA|ARID4B_uc001hwt.3_Missense_Mutation_p.C659Y NM_016374 NP_057458 Q4LE39 ARI4B_HUMAN AT rich interactive domain 4B isoform 1 978 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding ovary(2)|lung(1) 3 Ovarian(103;0.0473)|Breast(184;0.23) all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24) OV - Ovarian serous cystadenocarcinoma(106;2.86e-05) ACTGGGTGAACAACTCTCCTC 0.493 OR6F1 343169 broad.mit.edu 37 1 247875180 247875180 + Missense_Mutation SNP C T T TCGA-06-0166-01A-01D-1491-08 TCGA-06-0166-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 70157018-a3c5-4ef8-9314-f8715a3438a4 57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0 g.chr1:247875180C>T uc001idj.1 - 1 878 c.878G>A c.(877-879)CGT>CAT p.R293H NM_001005286 NP_001005286 Q8NGZ6 OR6F1_HUMAN olfactory receptor, family 6, subfamily F, 293 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.0168) TTCCTTATTACGAAGCGTATA 0.438 BMI1 648 broad.mit.edu 37 10 22615862 22615862 + Nonsense_Mutation SNP T G G TCGA-06-0166-01A-01D-1491-08 TCGA-06-0166-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 70157018-a3c5-4ef8-9314-f8715a3438a4 57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0 g.chr10:22615862T>G uc001irh.2 + 3 795 c.156T>G c.(154-156)TAT>TAG p.Y52* BMI1_uc009xkg.2_Nonsense_Mutation_p.Y195* NM_005180 NP_005171 P35226 BMI1_HUMAN BMI1 polycomb ring finger oncogene 52 RING-type. hemopoiesis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fibroblast proliferation|positive regulation of ubiquitin-protein ligase activity|segment specification|transcription, DNA-dependent cytoplasm|nucleolus|PcG protein complex|ubiquitin ligase complex RING-like zinc finger domain binding|zinc ion binding ovary(1)|skin(1) 2 CCAGCAAGTATTGTCCTATTT 0.343 C10orf71 118461 broad.mit.edu 37 10 50531485 50531485 + Missense_Mutation SNP G A A TCGA-06-0166-01A-01D-1491-08 TCGA-06-0166-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 70157018-a3c5-4ef8-9314-f8715a3438a4 57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0 g.chr10:50531485G>A uc010qgp.1 + 3 1234 c.895G>A c.(895-897)GAA>AAA p.E299K NM_199459 NP_955629 Q711Q0 CJ071_HUMAN hypothetical protein LOC118461 isoform 2 299 0 AACCGTCCCAGAAAGCAAAGC 0.542 PTEN 5728 broad.mit.edu 37 10 89711882 89711882 + Missense_Mutation SNP C G G TCGA-06-0166-01A-01D-1491-08 TCGA-06-0166-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 70157018-a3c5-4ef8-9314-f8715a3438a4 57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0 g.chr10:89711882C>G uc001kfb.2 + 7 1531 c.500C>G c.(499-501)ACT>AGT p.T167S NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 167 Phosphatase tensin-type. T -> P (in breast cancer; severely reduced protein phosphatase activity). T->A,D: 60% reduction in phosphatase activity towards PtdIns(3,4,5)P3. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.T167A(4)|p.R55fs*1(4)|p.V166fs*17(3)|p.?(3)|p.G165fs*9(3)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.V166fs*10(1)|p.T167I(1)|p.G165_K342del(1)|p.G165_*404del(1)|p.T167S(1)|p.T167P(1) endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1) 2334 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) CAGGGAGTAACTATTCCCAGT 0.368 31 D|Mis|N|F|S glioma| prostate|endometrial harmartoma|glioma| prostate|endometrial Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) KNDC1 85442 broad.mit.edu 37 10 135012314 135012314 + Missense_Mutation SNP A C C TCGA-06-0166-01A-01D-1491-08 TCGA-06-0166-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 70157018-a3c5-4ef8-9314-f8715a3438a4 57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0 g.chr10:135012314A>C uc001llz.1 + 14 2303 c.2302A>C c.(2302-2304)AAC>CAC p.N768H KNDC1_uc001lma.1_Missense_Mutation_p.N703H|KNDC1_uc001lmb.1_Missense_Mutation_p.N180H NM_152643 NP_689856 Q76NI1 VKIND_HUMAN kinase non-catalytic C-lobe domain (KIND) 768 Pro-rich. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) GGCCCCAGCAAACCAGCCAGA 0.731 MYOD1 4654 broad.mit.edu 37 11 17741852 17741852 + Missense_Mutation SNP G T T rs143600911 TCGA-06-0166-01A-01D-1491-08 TCGA-06-0166-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 70157018-a3c5-4ef8-9314-f8715a3438a4 57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0 g.chr11:17741852G>T uc001mni.2 + 1 743 c.523G>T c.(523-525)GCA>TCA p.A175S NM_002478 NP_002469 P15172 MYOD1_HUMAN myogenic differentiation 1 175 muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|skeletal muscle tissue development nuclear chromatin|transcription factor complex E-box binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity breast(2)|ovary(1) 3 CCCTGGCGCCGCAGCCGCCTT 0.577 Unknown 0 broad.mit.edu 37 12 31288993 31288993 + Silent SNP G A A TCGA-06-0166-01A-01D-1491-08 TCGA-06-0166-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 70157018-a3c5-4ef8-9314-f8715a3438a4 57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0 g.chr12:31288993G>A uc010sjy.1 - 17 2328 c.2328C>T c.(2326-2328)GTC>GTT p.V776V RecName: Full=Ovostatin homolog 1; Flags: Precursor; AAGGTTGGGAGACTTCTAGAG 0.423 TMEM132D 121256 broad.mit.edu 37 12 129558863 129558863 + Nonsense_Mutation SNP C A A TCGA-06-0166-01A-01D-1491-08 TCGA-06-0166-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 70157018-a3c5-4ef8-9314-f8715a3438a4 57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0 g.chr12:129558863C>A uc009zyl.1 - 9 3185 c.2857G>T c.(2857-2859)GAG>TAG p.E953* TMEM132D_uc001uia.2_Nonsense_Mutation_p.E491* NM_133448 NP_597705 Q14C87 T132D_HUMAN transmembrane protein 132D precursor 953 Cytoplasmic (Potential). integral to membrane p.E953*(1) ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) TCCTGCTCCTCGAAGGGAACC 0.458 NALCN 259232 broad.mit.edu 37 13 101795440 101795440 + Silent SNP G A A TCGA-06-0166-01A-01D-1491-08 TCGA-06-0166-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 70157018-a3c5-4ef8-9314-f8715a3438a4 57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0 g.chr13:101795440G>A uc001vox.1 - 17 2298 c.2109C>T c.(2107-2109)ATC>ATT p.I703I NALCN_uc001voy.2_Silent_p.I418I NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN voltage gated channel like 1 703 Cytoplasmic (Potential). integral to membrane sodium channel activity|voltage-gated ion channel activity ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1) 16 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) CTTTTTGGTCGATGTATTTGT 0.468 CDKL1 8814 broad.mit.edu 37 14 50862534 50862534 + Missense_Mutation SNP A G G TCGA-06-0166-01A-01D-1491-08 TCGA-06-0166-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 70157018-a3c5-4ef8-9314-f8715a3438a4 57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0 g.chr14:50862534A>G uc010anu.1 - 5 623 c.623T>C c.(622-624)GTT>GCT p.V208A CDKL1_uc001wxz.2_Missense_Mutation_p.V19A NM_004196 NP_004187 Q00532 CDKL1_HUMAN cyclin-dependent kinase-like 1 18 ATP (By similarity).|Protein kinase. cytoplasm|nucleus ATP binding|cyclin-dependent protein kinase activity ovary(1)|stomach(1) 2 all_epithelial(31;0.000746)|Breast(41;0.0102) ACATTTGAAAACAACTCCATA 0.358 KCNH5 27133 broad.mit.edu 37 14 63447847 63447847 + Missense_Mutation SNP C T T TCGA-06-0166-01A-01D-1491-08 TCGA-06-0166-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 70157018-a3c5-4ef8-9314-f8715a3438a4 57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0 g.chr14:63447847C>T uc001xfx.2 - 6 736 c.685G>A c.(685-687)GCC>ACC p.A229T KCNH5_uc001xfy.2_Missense_Mutation_p.A229T|KCNH5_uc001xfz.1_Missense_Mutation_p.A171T|KCNH5_uc001xga.2_Missense_Mutation_p.A171T NM_139318 NP_647479 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H, 229 Helical; Name=Segment S1; (Potential). regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity ovary(4)|skin(4)|central_nervous_system(1) 9 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) ACCATAATGGCGGTGTAGAAG 0.383 HERC2 8924 broad.mit.edu 37 15 28460793 28460793 + Missense_Mutation SNP A G G TCGA-06-0166-01A-01D-1491-08 TCGA-06-0166-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 70157018-a3c5-4ef8-9314-f8715a3438a4 57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0 g.chr15:28460793A>G uc001zbj.2 - 39 6290 c.6184T>C c.(6184-6186)TTC>CTC p.F2062L NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 2062 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 13 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) GTGGCAGTGAAGGGTGCGTGC 0.607 FRMD5 84978 broad.mit.edu 37 15 44181021 44181021 + Missense_Mutation SNP C T T TCGA-06-0166-01A-01D-1491-08 TCGA-06-0166-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 70157018-a3c5-4ef8-9314-f8715a3438a4 57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0 g.chr15:44181021C>T uc001ztl.2 - 9 955 c.778G>A c.(778-780)GTA>ATA p.V260I FRMD5_uc001ztj.1_5'UTR|FRMD5_uc001ztk.1_Splice_Site_p.Y170_splice|FRMD5_uc001ztm.2_5'UTR|FRMD5_uc001ztn.2_Missense_Mutation_p.V26I NM_032892 NP_116281 Q7Z6J6 FRMD5_HUMAN FERM domain containing 5 isoform 2 260 FERM. cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane cytoskeletal protein binding ovary(1) 1 all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275) all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06) TTCTGACTTACGTATAAATAG 0.498 SLTM 79811 broad.mit.edu 37 15 59186379 59186379 + Missense_Mutation SNP G A A TCGA-06-0166-01A-01D-1491-08 TCGA-06-0166-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 70157018-a3c5-4ef8-9314-f8715a3438a4 57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0 g.chr15:59186379G>A uc002afp.2 - 11 1479 c.1391C>T c.(1390-1392)CCC>CTC p.P464L SLTM_uc002afn.2_Missense_Mutation_p.P33L|SLTM_uc002afo.2_Missense_Mutation_p.P446L|SLTM_uc002afq.2_Missense_Mutation_p.P33L|SLTM_uc010bgd.2_Missense_Mutation_p.P33L NM_024755 NP_079031 Q9NWH9 SLTM_HUMAN modulator of estrogen induced transcription 464 apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding ovary(1) 1 TTTCTTAGAGGGATCACCTTT 0.318 GCNT3 9245 broad.mit.edu 37 15 59911701 59911701 + Nonsense_Mutation SNP C T T TCGA-06-0166-01A-01D-1491-08 TCGA-06-0166-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 70157018-a3c5-4ef8-9314-f8715a3438a4 57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0 g.chr15:59911701C>T uc002age.2 + 3 1713 c.1264C>T c.(1264-1266)CAG>TAG p.Q422* GCNT3_uc002agd.2_Nonsense_Mutation_p.Q422* NM_004751 NP_004742 O95395 GCNT3_HUMAN glucosaminyl (N-acetyl) transferase 3, mucin 422 Lumenal (Potential). protein O-linked glycosylation Golgi membrane|integral to membrane|membrane fraction beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity ovary(1)|central_nervous_system(1) 2 TAATGCTCTTCAGTGCTTAGA 0.458 RASGRF1 5923 broad.mit.edu 37 15 79320175 79320175 + Missense_Mutation SNP G A A TCGA-06-0166-01A-01D-1491-08 TCGA-06-0166-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 70157018-a3c5-4ef8-9314-f8715a3438a4 57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0 g.chr15:79320175G>A uc002beq.2 - 9 1664 c.1289C>T c.(1288-1290)ACG>ATG p.T430M RASGRF1_uc002bep.2_Missense_Mutation_p.T430M|RASGRF1_uc010blm.1_Missense_Mutation_p.T352M|RASGRF1_uc002ber.3_Missense_Mutation_p.T430M NM_002891 NP_002882 Q13972 RGRF1_HUMAN Ras protein-specific guanine 430 activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity skin(4)|ovary(1)|central_nervous_system(1) 6 GATGTTCTCCGTCTCACTTAC 0.547 RPL3L 6123 broad.mit.edu 37 16 2002950 2002950 + Missense_Mutation SNP C T T TCGA-06-0166-01A-01D-1491-08 TCGA-06-0166-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 70157018-a3c5-4ef8-9314-f8715a3438a4 57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0 g.chr16:2002950C>T uc002cnh.2 - 3 337 c.290G>A c.(289-291)CGA>CAA p.R97Q NM_005061 NP_005052 Q92901 RL3L_HUMAN ribosomal protein L3-like 97 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosol|ribosome RNA binding|structural constituent of ribosome 0 CCGGAGACCTCGAGGGGTGGC 0.607 ATF7IP2 80063 broad.mit.edu 37 16 10524503 10524503 + Missense_Mutation SNP G A A TCGA-06-0166-01A-01D-1491-08 TCGA-06-0166-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 70157018-a3c5-4ef8-9314-f8715a3438a4 57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0 g.chr16:10524503G>A uc002czu.2 + 3 253 c.26G>A c.(25-27)CGG>CAG p.R9Q ATF7IP2_uc002czv.2_Missense_Mutation_p.R9Q|ATF7IP2_uc010uyo.1_RNA|ATF7IP2_uc010uyp.1_Intron|ATF7IP2_uc002czw.2_Missense_Mutation_p.R9Q|ATF7IP2_uc010uyq.1_RNA NM_024997 NP_079273 Q5U623 MCAF2_HUMAN activating transcription factor 7 interacting 9 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 AGAAGTAAACGGAAGATATTA 0.348 ABCC1 4363 broad.mit.edu 37 16 16218658 16218658 + Silent SNP G A A TCGA-06-0166-01A-01D-1491-08 TCGA-06-0166-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 70157018-a3c5-4ef8-9314-f8715a3438a4 57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0 g.chr16:16218658G>A uc010bvi.2 + 25 3778 c.3603G>A c.(3601-3603)GTG>GTA p.V1201V ABCC1_uc010bvj.2_Silent_p.V1142V|ABCC1_uc010bvk.2_Silent_p.V1145V|ABCC1_uc010bvl.2_Silent_p.V1201V|ABCC1_uc010bvm.2_Silent_p.V1086V|ABCC1_uc002del.3_Silent_p.V1095V NM_004996 NP_004987 P33527 MRP1_HUMAN ATP-binding cassette, sub-family C, member 1 1201 Cytoplasmic.|ABC transmembrane type-1 2. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(4) 4 Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) GGCTGGCCGTGCGGCTGGAGT 0.592 SLC5A11 115584 broad.mit.edu 37 16 24921737 24921739 + In_Frame_Del DEL CAG - - TCGA-06-0166-01A-01D-1491-08 TCGA-06-0166-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 70157018-a3c5-4ef8-9314-f8715a3438a4 57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0 g.chr16:24921737_24921739delCAG uc002dmu.2 + 15 1993_1995 c.1761_1763delCAG c.(1759-1764)GCCAGC>GCC p.S592del SLC5A11_uc002dms.2_In_Frame_Del_p.S528del|SLC5A11_uc010vcd.1_In_Frame_Del_p.S557del|SLC5A11_uc002dmt.2_In_Frame_Del_p.S436del|SLC5A11_uc010vce.1_In_Frame_Del_p.S522del|SLC5A11_uc010bxt.2_In_Frame_Del_p.S528del|SLC5A11_uc002dmv.2_In_Frame_Del_p.S215del NM_052944 NP_443176 Q8WWX8 SC5AB_HUMAN solute carrier family 5 (sodium/glucose 592 Cytoplasmic (Potential). apoptosis|carbohydrate transport|sodium ion transport integral to membrane|plasma membrane polyol transmembrane transporter activity|symporter activity ovary(2) 2 GBM - Glioblastoma multiforme(48;0.0365) TGCCAGAGGCCAGCAGCAGCAGC 0.542 CLEC3A 10143 broad.mit.edu 37 16 78064579 78064579 + Silent SNP C T T TCGA-06-0166-01A-01D-1491-08 TCGA-06-0166-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 70157018-a3c5-4ef8-9314-f8715a3438a4 57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0 g.chr16:78064579C>T uc002ffh.3 + 3 516 c.435C>T c.(433-435)AAC>AAT p.N145N NM_005752 NP_005743 O75596 CLC3A_HUMAN C-type lectin domain family 3 member A 145 C-type lectin. skeletal system development extracellular region sugar binding 0 TTGACGTCAACGGAATCGCTA 0.527 MYH1 4619 broad.mit.edu 37 17 10415407 10415407 + Missense_Mutation SNP C A A TCGA-06-0166-01A-01D-1491-08 TCGA-06-0166-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 70157018-a3c5-4ef8-9314-f8715a3438a4 57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0 g.chr17:10415407C>A uc002gmo.2 - 13 1344 c.1250G>T c.(1249-1251)GGT>GTT p.G417V uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 417 Myosin head-like. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1) 21 CACAGTTTGACCTTTGGTGAC 0.463 MYO19 80179 broad.mit.edu 37 17 34864958 34864958 + Missense_Mutation SNP C T T TCGA-06-0166-01A-01D-1491-08 TCGA-06-0166-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 70157018-a3c5-4ef8-9314-f8715a3438a4 57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0 g.chr17:34864958C>T uc010wcy.1 - 15 2166 c.1174G>A c.(1174-1176)GTA>ATA p.V392I MYO19_uc002hmw.2_Missense_Mutation_p.V392I|MYO19_uc010cuu.2_RNA|MYO19_uc010wcz.1_RNA NM_001163735 NP_001157207 Q96H55 MYO19_HUMAN myosin XIX isoform 2 392 Myosin head-like. mitochondrial outer membrane|myosin complex actin binding|ATP binding|motor activity ovary(1) 1 Breast(25;0.00957)|Ovarian(249;0.17) Kidney(155;0.104) UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) ATCACTGATACCAGCCAGTCA 0.537 MPP3 4356 broad.mit.edu 37 17 41898381 41898381 + Missense_Mutation SNP C T T TCGA-06-0166-01A-01D-1491-08 TCGA-06-0166-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 70157018-a3c5-4ef8-9314-f8715a3438a4 57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0 g.chr17:41898381C>T uc002iei.3 - 11 896 c.730G>A c.(730-732)GCC>ACC p.A244T MPP3_uc002ieh.2_Missense_Mutation_p.A269T|MPP3_uc002iej.2_RNA|MPP3_uc010czi.1_Missense_Mutation_p.A244T|MPP3_uc010wik.1_Missense_Mutation_p.A269T NM_001932 NP_001923 Q13368 MPP3_HUMAN palmitoylated membrane protein 3 244 SH3. signal transduction cell surface|integral to plasma membrane guanylate kinase activity large_intestine(1)|skin(1) 2 Breast(137;0.00394) BRCA - Breast invasive adenocarcinoma(366;0.119) CAAGGGATGGCCCGGTCCTCC 0.677 SPIRE1 56907 broad.mit.edu 37 18 12496095 12496095 + Missense_Mutation SNP C A A TCGA-06-0166-01A-01D-1491-08 TCGA-06-0166-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 70157018-a3c5-4ef8-9314-f8715a3438a4 57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0 g.chr18:12496095C>A uc002kre.2 - 7 1026 c.979G>T c.(979-981)GGT>TGT p.G327C SPIRE1_uc002krc.2_RNA|SPIRE1_uc010wzw.1_Missense_Mutation_p.G207C|SPIRE1_uc010wzx.1_Missense_Mutation_p.G130C|SPIRE1_uc010wzy.1_Missense_Mutation_p.G327C NM_001128626 NP_001122098 Q08AE8 SPIR1_HUMAN spire homolog 1 isoform a 327 cytoskeleton|perinuclear region of cytoplasm actin binding 0 GGAATATCACCATTCACCTAA 0.358 ILF3 3609 broad.mit.edu 37 19 10798360 10798360 + Missense_Mutation SNP G A A TCGA-06-0166-01A-01D-1491-08 TCGA-06-0166-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 70157018-a3c5-4ef8-9314-f8715a3438a4 57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0 g.chr19:10798360G>A uc002mpn.2 + 18 2715 c.2398G>A c.(2398-2400)GAC>AAC p.D800N ILF3_uc002mpo.2_Missense_Mutation_p.D804N|ILF3_uc002mpq.2_Silent_p.P102P NM_012218 NP_036350 Q12906 ILF3_HUMAN interleukin enhancer binding factor 3 isoform a 800 Interaction with PRMT1. M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleolus|ribonucleoprotein complex DNA binding|double-stranded RNA binding|protein binding|protein binding ovary(3) 3 Epithelial(33;6.86e-06)|all cancers(31;1.65e-05) GGGCGGATCCGACTACAACTA 0.617 LDLR 3949 broad.mit.edu 37 19 11233883 11233883 + Missense_Mutation SNP C A A TCGA-06-0166-01A-01D-1491-08 TCGA-06-0166-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 70157018-a3c5-4ef8-9314-f8715a3438a4 57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0 g.chr19:11233883C>A uc002mqk.3 + 15 2342 c.2174C>A c.(2173-2175)TCC>TAC p.S725Y LDLR_uc010xlk.1_Missense_Mutation_p.S725Y|LDLR_uc010xll.1_Missense_Mutation_p.S684Y|LDLR_uc010xlm.1_Missense_Mutation_p.S578Y|LDLR_uc010xln.1_Missense_Mutation_p.S547Y|LDLR_uc010xlo.1_Missense_Mutation_p.S557Y NM_000527 NP_000518 P01130 LDLR_HUMAN low density lipoprotein receptor precursor 725 Clustered O-linked oligosaccharides.|Extracellular (Potential). cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity ovary(2)|skin(2) 4 Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524) GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197) Methyl aminolevulinate(DB00992)|Porfimer(DB00707) CAGGAGACATCCACCGTCAGG 0.607 FBL 2091 broad.mit.edu 37 19 40328442 40328442 + Silent SNP G A A TCGA-06-0166-01A-01D-1491-08 TCGA-06-0166-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 70157018-a3c5-4ef8-9314-f8715a3438a4 57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0 g.chr19:40328442G>A uc002omn.2 - 6 705 c.591C>T c.(589-591)GGC>GGT p.G197G FBL_uc002omm.1_Silent_p.G111G|FBL_uc002omo.2_Silent_p.G196G NM_001436 NP_001427 P22087 FBRL_HUMAN fibrillarin 197 rRNA processing|tRNA processing box C/D snoRNP complex|Cajal body methyltransferase activity|protein binding|RNA binding ovary(1) 1 all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06) Renal(1328;0.000518)|Hepatocellular(1079;0.0893) Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23) GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138) TGAGGTCACGGCCAGAGCGGT 0.413 ZNF180 7733 broad.mit.edu 37 19 44981674 44981674 + Nonsense_Mutation SNP G A A TCGA-06-0166-01A-01D-1491-08 TCGA-06-0166-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 70157018-a3c5-4ef8-9314-f8715a3438a4 57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0 g.chr19:44981674G>A uc002ozf.3 - 5 1306 c.1024C>T c.(1024-1026)CAA>TAA p.Q342* ZNF180_uc002ozh.3_5'UTR|ZNF180_uc002ozi.3_Nonsense_Mutation_p.Q315*|ZNF180_uc002ozg.3_Nonsense_Mutation_p.Q341*|ZNF180_uc010ejm.2_Nonsense_Mutation_p.Q317* NM_013256 NP_037388 Q9UJW8 ZN180_HUMAN zinc finger protein 180 342 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 Prostate(69;0.0435) CTCATGTTTTGAGTAAGGGAG 0.378 FPR3 2359 broad.mit.edu 37 19 52327921 52327921 + Missense_Mutation SNP G A A TCGA-06-0166-01A-01D-1491-08 TCGA-06-0166-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 70157018-a3c5-4ef8-9314-f8715a3438a4 57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0 g.chr19:52327921G>A uc002pxt.1 + 2 1104 c.920G>A c.(919-921)CGT>CAT p.R307H NM_002030 NP_002021 P25089 FPR3_HUMAN formyl peptide receptor-like 2 307 Cytoplasmic (Potential). cellular component movement|chemotaxis integral to membrane|plasma membrane N-formyl peptide receptor activity lung(4)|breast(1)|skin(1) 6 TTTATGGGTCGTAACTTCCAA 0.473 DYNC2LI1 51626 broad.mit.edu 37 2 44023908 44023908 + Missense_Mutation SNP G A A TCGA-06-0166-01A-01D-1491-08 TCGA-06-0166-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 70157018-a3c5-4ef8-9314-f8715a3438a4 57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0 g.chr2:44023908G>A uc002rtk.2 + 8 724 c.628G>A c.(628-630)GCA>ACA p.A210T DYNC2LI1_uc002rtj.2_Missense_Mutation_p.A210T|DYNC2LI1_uc002rtl.2_Missense_Mutation_p.A211T|DYNC2LI1_uc010ynz.1_Missense_Mutation_p.A84T NM_016008 NP_057092 Q8TCX1 DC2L1_HUMAN dynein 2 light intermediate chain isoform 1 210 apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium motor activity ovary(1) 1 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) TCGATTTGTTGCACATTATTA 0.343 ZRANB3 84083 broad.mit.edu 37 2 135960424 135960424 + Missense_Mutation SNP A G G TCGA-06-0166-01A-01D-1491-08 TCGA-06-0166-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 70157018-a3c5-4ef8-9314-f8715a3438a4 57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0 g.chr2:135960424A>G uc002tum.2 - 20 3236 c.3119T>C c.(3118-3120)CTC>CCC p.L1040P ZRANB3_uc002tuk.2_Missense_Mutation_p.L583P|ZRANB3_uc002tul.2_Missense_Mutation_p.L1038P NM_032143 NP_115519 Q5FWF4 ZRAB3_HUMAN zinc finger, RAN-binding domain containing 3 1040 intracellular ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding lung(2) 2 BRCA - Breast invasive adenocarcinoma(221;0.135) GACTGTGCAGAGAGTCTGCAG 0.478 MMP24 10893 broad.mit.edu 37 20 33851598 33851598 + Silent SNP C T T TCGA-06-0166-01A-01D-1491-08 TCGA-06-0166-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 70157018-a3c5-4ef8-9314-f8715a3438a4 57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0 g.chr20:33851598C>T uc002xbu.2 + 5 825 c.822C>T c.(820-822)AAC>AAT p.N274N EDEM2_uc010zuv.1_Intron NM_006690 NP_006681 Q9Y5R2 MMP24_HUMAN matrix metalloproteinase 24 preproprotein 274 Extracellular (Potential). proteolysis integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding 0 BRCA - Breast invasive adenocarcinoma(18;0.00252) CCACAGGGAACGACCTCTTCC 0.522 NUP210 23225 broad.mit.edu 37 3 13379344 13379344 + Missense_Mutation SNP C T T TCGA-06-0166-01A-01D-1491-08 TCGA-06-0166-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 70157018-a3c5-4ef8-9314-f8715a3438a4 57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0 g.chr3:13379344C>T uc003bxv.1 - 26 3628 c.3545G>A c.(3544-3546)GGC>GAC p.G1182D NM_024923 NP_079199 Q8TEM1 PO210_HUMAN nucleoporin 210 precursor 1182 Lumenal (Probable). carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1) 11 all_neural(104;0.187) CACCTGGGTGCCCGTCCTCAT 0.627 XCR1 2829 broad.mit.edu 37 3 46063343 46063343 + Missense_Mutation SNP C T T rs140218706 TCGA-06-0166-01A-01D-1491-08 TCGA-06-0166-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 70157018-a3c5-4ef8-9314-f8715a3438a4 57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0 g.chr3:46063343C>T uc003cpe.2 - 3 321 c.97G>A c.(97-99)GCC>ACC p.A33T uc003cpd.1_5'Flank|XCR1_uc003cpf.2_Missense_Mutation_p.A33T NM_005283 NP_005274 P46094 XCR1_HUMAN XC chemokine receptor 1 33 Helical; Name=1; (Potential). chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response integral to plasma membrane chemokine receptor activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203) ACAGTGGTGGCGAGGGTAGCA 0.567 CP 1356 broad.mit.edu 37 3 148895735 148895735 + Missense_Mutation SNP T G G TCGA-06-0166-01A-01D-1491-08 TCGA-06-0166-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 70157018-a3c5-4ef8-9314-f8715a3438a4 57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0 g.chr3:148895735T>G uc003ewy.3 - 17 3163 c.2910A>C c.(2908-2910)CAA>CAC p.Q970H CP_uc011bnr.1_RNA|CP_uc003eww.3_Missense_Mutation_p.Q122H|CP_uc003ewx.3_Missense_Mutation_p.Q751H|CP_uc003ewz.2_Missense_Mutation_p.Q970H NM_000096 NP_000087 P00450 CERU_HUMAN ceruloplasmin precursor 970 F5/8 type A 3.|Plastocyanin-like 6. cellular iron ion homeostasis|copper ion transport|transmembrane transport extracellular space chaperone binding|ferroxidase activity ovary(1) 1 Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152) LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) Drotrecogin alfa(DB00055) TTGTGAGGCCTTGTAGGTTTC 0.378 MECOM 2122 broad.mit.edu 37 3 169099085 169099085 + Missense_Mutation SNP C A A TCGA-06-0166-01A-01D-1491-08 TCGA-06-0166-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 70157018-a3c5-4ef8-9314-f8715a3438a4 57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0 g.chr3:169099085C>A uc011bpj.1 - 2 668 c.265G>T c.(265-267)GGG>TGG p.G89W MECOM_uc003ffl.2_Missense_Mutation_p.G61W|MECOM_uc011bpk.1_Intron|MECOM_uc010hwn.2_Missense_Mutation_p.G89W|MECOM_uc011bpl.1_Missense_Mutation_p.G89W NM_004991 NP_004982 Q03112 EVI1_HUMAN MDS1 and EVI1 complex locus isoform c Error:Variant_position_missing_in_Q03112_after_alignment apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle nuclear speck DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1) 14 AGTCCTGCCCCAGGCATATTT 0.473 PIK3CA 5290 broad.mit.edu 37 3 178916641 178916661 + In_Frame_Del DEL CTGTGGGGCATCCACTTGATG - - TCGA-06-0166-01A-01D-1491-08 TCGA-06-0166-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 70157018-a3c5-4ef8-9314-f8715a3438a4 57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0 g.chr3:178916641_178916661delCTGTGGGGCATCCACTTGATG uc003fjk.2 + 2 185_205 c.28_48delCTGTGGGGCATCCACTTGATG c.(28-48)CTGTGGGGCATCCACTTGATGdel p.LWGIHLM10del NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 10_16 epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.G12D(2)|p.L10_M16del(1)|p.L15_V22>PM(1)|p.E9_R19del(1) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) ATCAGGTGAACTGTGGGGCATCCACTTGATGCCCCCAAGAA 0.394 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) LIMCH1 22998 broad.mit.edu 37 4 41652554 41652554 + Missense_Mutation SNP G A A TCGA-06-0166-01A-01D-1491-08 TCGA-06-0166-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 70157018-a3c5-4ef8-9314-f8715a3438a4 57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0 g.chr4:41652554G>A uc003gvu.3 + 13 1864 c.1810G>A c.(1810-1812)GAG>AAG p.E604K LIMCH1_uc003gvv.3_Missense_Mutation_p.E604K|LIMCH1_uc003gvw.3_Missense_Mutation_p.E604K|LIMCH1_uc003gvx.3_Missense_Mutation_p.E592K|LIMCH1_uc003gwe.3_Missense_Mutation_p.E604K|LIMCH1_uc003gvy.3_Missense_Mutation_p.E433K|LIMCH1_uc003gwa.3_Missense_Mutation_p.E445K|LIMCH1_uc003gvz.3_Missense_Mutation_p.E989K|LIMCH1_uc011byu.1_Missense_Mutation_p.E438K|LIMCH1_uc003gwc.3_Missense_Mutation_p.E450K|LIMCH1_uc003gwd.3_Missense_Mutation_p.E438K|LIMCH1_uc011byv.1_Missense_Mutation_p.E355K NM_014988 NP_055803 Q9UPQ0 LIMC1_HUMAN LIM and calponin homology domains 1 isoform a 604 actomyosin structure organization actin binding|zinc ion binding ovary(2)|pancreas(1)|skin(1) 4 GTCTCCACTGGAGCTGAAACA 0.527 NPY2R 4887 broad.mit.edu 37 4 156135822 156135822 + Missense_Mutation SNP G C C TCGA-06-0166-01A-01D-1491-08 TCGA-06-0166-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 70157018-a3c5-4ef8-9314-f8715a3438a4 57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0 g.chr4:156135822G>C uc003ioq.2 + 2 1226 c.731G>C c.(730-732)AGT>ACT p.S244T NPY2R_uc003ior.2_Missense_Mutation_p.S244T NM_000910 NP_000901 P49146 NPY2R_HUMAN neuropeptide Y receptor Y2 244 Cytoplasmic (Potential). cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis integral to plasma membrane calcium channel regulator activity lung(2)|skin(1) 3 all_hematologic(180;0.24) Renal(120;0.0854) CGCATTTGGAGTAAATTGAAG 0.433 FTMT 94033 broad.mit.edu 37 5 121187974 121187974 + Missense_Mutation SNP G A A TCGA-06-0166-01A-01D-1491-08 TCGA-06-0166-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 70157018-a3c5-4ef8-9314-f8715a3438a4 57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0 g.chr5:121187974G>A uc003kss.2 + 1 325 c.316G>A c.(316-318)GTG>ATG p.V106M NM_177478 NP_803431 Q8N4E7 FTMT_HUMAN ferritin mitochondrial precursor 106 Ferritin-like diiron. cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity mitochondrion ferric iron binding|ferroxidase activity ovary(1) 1 all_cancers(142;0.0124)|Prostate(80;0.0322) KIRC - Kidney renal clear cell carcinoma(527;0.206) Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027) CCGGGATGACGTGGCCTTGAA 0.592 FCHSD1 89848 broad.mit.edu 37 5 141029038 141029038 + Missense_Mutation SNP C T T TCGA-06-0166-01A-01D-1491-08 TCGA-06-0166-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 70157018-a3c5-4ef8-9314-f8715a3438a4 57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0 g.chr5:141029038C>T uc003llk.2 - 5 350 c.299G>A c.(298-300)CGA>CAA p.R100Q FCHSD1_uc010jgg.2_5'Flank|FCHSD1_uc003llj.2_RNA NM_033449 NP_258260 Q86WN1 FCSD1_HUMAN FCH and double SH3 domains 1 100 FCHSD1/BRAF(2) skin(2)|ovary(1)|central_nervous_system(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCCTGGAGTCGGGTTTGGCC 0.637 WBSCR17 64409 broad.mit.edu 37 7 71175882 71175882 + Missense_Mutation SNP G C C TCGA-06-0166-01A-01D-1491-08 TCGA-06-0166-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 70157018-a3c5-4ef8-9314-f8715a3438a4 57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0 g.chr7:71175882G>C uc003tvy.2 + 10 1637 c.1637G>C c.(1636-1638)AGC>ACC p.S546T WBSCR17_uc003tvz.2_Missense_Mutation_p.S245T NM_022479 NP_071924 Q6IS24 GLTL3_HUMAN UDP-GalNAc:polypeptide 546 Ricin B-type lectin.|Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1) 7 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) AAGGTCAAGAGCAGCCTGTAC 0.612 PCLO 27445 broad.mit.edu 37 7 82595090 82595090 + Missense_Mutation SNP T A A TCGA-06-0166-01A-01D-1491-08 TCGA-06-0166-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 70157018-a3c5-4ef8-9314-f8715a3438a4 57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0 g.chr7:82595090T>A uc003uhx.2 - 4 4303 c.4014A>T c.(4012-4014)AAA>AAT p.K1338N PCLO_uc003uhv.2_Missense_Mutation_p.K1338N NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 AACTTACTGTTTTTTCTTTCC 0.338 DYNC1I1 1780 broad.mit.edu 37 7 95457400 95457400 + Missense_Mutation SNP C T T TCGA-06-0166-01A-01D-1491-08 TCGA-06-0166-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 70157018-a3c5-4ef8-9314-f8715a3438a4 57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0 g.chr7:95457400C>T uc003uoc.3 + 5 674 c.397C>T c.(397-399)CTC>TTC p.L133F DYNC1I1_uc003uod.3_Missense_Mutation_p.L116F|DYNC1I1_uc003uob.2_Intron|DYNC1I1_uc003uoe.3_Intron|DYNC1I1_uc010lfl.2_Missense_Mutation_p.L122F NM_004411 NP_004402 O14576 DC1I1_HUMAN dynein, cytoplasmic 1, intermediate chain 1 133 vesicle transport along microtubule condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle microtubule binding|microtubule motor activity ovary(3)|kidney(1) 4 all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191) STAD - Stomach adenocarcinoma(171;0.0957) CCCCTCAGTGCTCCAGCTGCA 0.443 AP3M2 10947 broad.mit.edu 37 8 42024775 42024776 + Frame_Shift_Ins INS - GT GT TCGA-06-0166-01A-01D-1491-08 TCGA-06-0166-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 70157018-a3c5-4ef8-9314-f8715a3438a4 57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0 g.chr8:42024775_42024776insGT uc003xop.2 + 8 1188_1189 c.897_898insGT c.(895-900)CAGACGfs p.Q299fs AP3M2_uc003xoo.2_Frame_Shift_Ins_p.Q299fs|AP3M2_uc010lxe.2_Intron NM_001134296 NP_001127768 P53677 AP3M2_HUMAN adaptor-related protein complex 3, mu 2 subunit 299_300 MHD. intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|Golgi apparatus 0 all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211) all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983) BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024) GACCCAAGCAGACGATGGGGAA 0.515 ST18 9705 broad.mit.edu 37 8 53073986 53073986 + Missense_Mutation SNP G A A rs2303460 byFrequency TCGA-06-0166-01A-01D-1491-08 TCGA-06-0166-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 70157018-a3c5-4ef8-9314-f8715a3438a4 57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0 g.chr8:53073986G>A uc003xqz.2 - 9 1699 c.1543C>T c.(1543-1545)CGC>TGC p.R515C ST18_uc011ldq.1_Missense_Mutation_p.R162C|ST18_uc011ldr.1_Missense_Mutation_p.R480C|ST18_uc011lds.1_Missense_Mutation_p.R420C|ST18_uc003xra.2_Missense_Mutation_p.R515C|ST18_uc003xrb.2_Missense_Mutation_p.R515C NM_014682 NP_055497 O60284 ST18_HUMAN suppression of tumorigenicity 18 515 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(1) 5 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) ATGAGAGGGCGTTTACCGAAA 0.433 DCAF13 25879 broad.mit.edu 37 8 104427337 104427338 + Frame_Shift_Ins INS - G G TCGA-06-0166-01A-01D-1491-08 TCGA-06-0166-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 70157018-a3c5-4ef8-9314-f8715a3438a4 57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0 g.chr8:104427337_104427338insG uc003yln.2 + 1 396_397 c.119_120insG c.(118-120)GAGfs p.E40fs SLC25A32_uc003yll.2_5'UTR|SLC25A32_uc011lhr.1_5'UTR|DCAF13_uc003ylm.1_5'UTR|DCAF13_uc003ylo.2_5'UTR NM_015420 NP_056235 Q9NV06 DCA13_HUMAN WD repeats and SOF1 domain containing Error:Variant_position_missing_in_Q9NV06_after_alignment rRNA processing CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex breast(1) 1 TCTAGTACTGAGGGGGCAAGAA 0.663 ASAP1 50807 broad.mit.edu 37 8 131124496 131124496 + Missense_Mutation SNP C G G TCGA-06-0166-01A-01D-1491-08 TCGA-06-0166-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 70157018-a3c5-4ef8-9314-f8715a3438a4 57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0 g.chr8:131124496C>G uc003yta.1 - 23 2273 c.2245G>C c.(2245-2247)GAC>CAC p.D749H ASAP1_uc003ysz.1_Missense_Mutation_p.D560H|ASAP1_uc011liw.1_Missense_Mutation_p.D742H NM_018482 NP_060952 Q9ULH1 ASAP1_HUMAN development and differentiation enhancing factor 749 cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction cytoplasm|membrane ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding ovary(4) 4 GCCAGCTTGTCCTGGGGGGAG 0.542 FAM75C1 441452 broad.mit.edu 37 9 90537612 90537612 + Silent SNP C T T TCGA-06-0166-01A-01D-1491-08 TCGA-06-0166-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 70157018-a3c5-4ef8-9314-f8715a3438a4 57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0 g.chr9:90537612C>T uc010mqi.2 + 4 2819 c.2790C>T c.(2788-2790)GCC>GCT p.A930A FAM75C1_uc004apq.3_Silent_p.A913A NM_001145124 NP_001138596 family with sequence similarity 75, member C1 0 TCATGTCAGCCAGAAGGAGTA 0.547 ZNF618 114991 broad.mit.edu 37 9 116750662 116750662 + Missense_Mutation SNP G A A TCGA-06-0166-01A-01D-1491-08 TCGA-06-0166-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 70157018-a3c5-4ef8-9314-f8715a3438a4 57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0 g.chr9:116750662G>A uc004bid.2 + 3 238 c.139G>A c.(139-141)GAG>AAG p.E47K ZNF618_uc004bib.1_Missense_Mutation_p.E47K|ZNF618_uc004bic.2_Missense_Mutation_p.E47K|ZNF618_uc011lxi.1_Missense_Mutation_p.E47K|ZNF618_uc011lxj.1_Missense_Mutation_p.E47K NM_133374 NP_588615 Q5T7W0 ZN618_HUMAN zinc finger protein 618 47 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 AGTGCCAGCCGAGGCCTCGCT 0.602 OR5C1 392391 broad.mit.edu 37 9 125551633 125551633 + Missense_Mutation SNP C T T TCGA-06-0166-01A-01D-1491-08 TCGA-06-0166-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 70157018-a3c5-4ef8-9314-f8715a3438a4 57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0 g.chr9:125551633C>T uc011lzd.1 + 1 422 c.422C>T c.(421-423)TCG>TTG p.S141L NM_001001923 NP_001001923 Q8NGR4 OR5C1_HUMAN olfactory receptor, family 5, subfamily C, 141 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 ACAGCTATGTCGCAGCGTCTA 0.572 BCOR 54880 broad.mit.edu 37 X 39932171 39932171 + Nonsense_Mutation SNP G A A TCGA-06-0166-01A-01D-1491-08 TCGA-06-0166-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 70157018-a3c5-4ef8-9314-f8715a3438a4 57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0 g.chrX:39932171G>A uc004den.3 - 4 2720 c.2428C>T c.(2428-2430)CGA>TGA p.R810* BCOR_uc004dep.3_Nonsense_Mutation_p.R810*|BCOR_uc004deo.3_Nonsense_Mutation_p.R810*|BCOR_uc004dem.3_Nonsense_Mutation_p.R810*|BCOR_uc004deq.3_Nonsense_Mutation_p.R810* NM_001123385 NP_001116857 Q6W2J9 BCOR_HUMAN BCL-6 interacting corepressor isoform c 810 heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent nucleus heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding ovary(2)|kidney(1)|central_nervous_system(1) 4 GGTTCTTCTCGGAGAAGGTCT 0.522 OTUD5 55593 broad.mit.edu 37 X 48814319 48814319 + Missense_Mutation SNP C T T TCGA-06-0166-01A-01D-1491-08 TCGA-06-0166-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 70157018-a3c5-4ef8-9314-f8715a3438a4 57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0 g.chrX:48814319C>T uc004dlu.2 - 1 575 c.514G>A c.(514-516)GGC>AGC p.G172S OTUD5_uc004dlt.3_Missense_Mutation_p.G172S|OTUD5_uc004dlv.2_Missense_Mutation_p.G172S|OTUD5_uc011mmp.1_Intron NM_017602 NP_060072 Q96G74 OTUD5_HUMAN OTU domain containing 5 isoform a 172 Gly-rich. negative regulation of type I interferon production cysteine-type peptidase activity pancreas(1) 1 TAGCCTGCGCCGACCTCCTCA 0.687 MED12 9968 broad.mit.edu 37 X 70349202 70349202 + Missense_Mutation SNP G A A TCGA-06-0166-01A-01D-1491-08 TCGA-06-0166-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx 70157018-a3c5-4ef8-9314-f8715a3438a4 57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0 g.chrX:70349202G>A uc004dyy.2 + 26 3813 c.3614G>A c.(3613-3615)CGC>CAC p.R1205H MED12_uc011mpq.1_Missense_Mutation_p.R1205H|MED12_uc004dyz.2_Missense_Mutation_p.R1205H|MED12_uc004dza.2_Missense_Mutation_p.R1052H|MED12_uc010nla.2_5'Flank NM_005120 NP_005111 Q93074 MED12_HUMAN mediator complex subunit 12 1205 androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 4 Renal(35;0.156) TCCTGCGACCGCCACCTGCTG 0.582 OREG0019857 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)