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 ATAD3B 83858 broad.mit.edu 37 1 1423270 1423270 + Silent SNP C C T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr1:1423270C>T uc001afv.2 + 12 1343 c.1242C>T c.(1240-1242)GAC>GAT p.D414D ATAD3B_uc001afx.2_Silent_p.D368D|ATAD3B_uc001afy.2_5'Flank NM_031921 NP_114127 Q5T9A4 ATD3B_HUMAN AAA-ATPase TOB3 414 ATP binding|nucleoside-triphosphatase activity 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) ATGAAGCAGACGCCTTCCTTC 0.652000 CHD5 26038 broad.mit.edu 37 1 6169960 6169960 + Missense_Mutation SNP G G A TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr1:6169960G>A uc001amb.1 - 38 5573 c.5473C>T c.(5473-5475)CTC>TTC p.L1825F CHD5_uc001alz.1_Missense_Mutation_p.L682F|CHD5_uc001ama.1_RNA NM_015557 NP_056372 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 1825 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1) 12 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) CGGGCGTTGAGGGCCATGGCG 0.667000 PER3 8863 broad.mit.edu 37 1 7887798 7887798 + Missense_Mutation SNP T T G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr1:7887798T>G uc001aoo.2 + 17 2960 c.2785T>G c.(2785-2787)TTA>GTA p.L929V PER3_uc009vmg.1_Missense_Mutation_p.L937V|PER3_uc009vmh.1_Missense_Mutation_p.L930V|PER3_uc001aop.2_Missense_Mutation_p.L937V|PER3_uc010nzw.1_Missense_Mutation_p.L618V NM_016831 NP_058515 P56645 PER3_HUMAN period 3 929 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity ovary(1)|pancreas(1)|skin(1) 3 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649) GCAGTTAAACTTACTTCAGGA 0.488000 MYOM3 127294 broad.mit.edu 37 1 24417475 24417475 + Missense_Mutation SNP T T C TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr1:24417475T>C uc001bin.3 - 12 1407 c.1244A>G c.(1243-1245)GAG>GGG p.E415G MYOM3_uc001bim.3_Missense_Mutation_p.E72G|MYOM3_uc001bio.2_Missense_Mutation_p.E415G|MYOM3_uc001bip.1_Missense_Mutation_p.E72G NM_152372 NP_689585 Q5VTT5 MYOM3_HUMAN myomesin family, member 3 415 Fibronectin type-III 1. skin(2)|ovary(1) 3 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) TTCCCCAGACTCGCCCTGGCA 0.622000 KANK4 163782 broad.mit.edu 37 1 62739395 62739395 + Missense_Mutation SNP G G A TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr1:62739395G>A uc001dah.3 - 3 1758 c.1381C>T c.(1381-1383)CAT>TAT p.H461Y KANK4_uc001dai.3_Intron|KANK4_uc001dag.3_5'Flank NM_181712 NP_859063 Q5T7N3 KANK4_HUMAN ankyrin repeat domain 38 461 ovary(3)|skin(2)|lung(1) 6 CCTTGTTTATGACCATCTGGC 0.557000 SLC35D1 23169 broad.mit.edu 37 1 67486081 67486081 + Missense_Mutation SNP G G A TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr1:67486081G>A uc001ddk.2 - 10 1231 c.847C>T c.(847-849)CTT>TTT p.L283F SLC35D1_uc010oph.1_Missense_Mutation_p.L204F NM_015139 NP_055954 Q9NTN3 S35D1_HUMAN solute carrier family 35 (UDP-glucuronic 283 Helical; (Potential). chondroitin sulfate biosynthetic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process integral to endoplasmic reticulum membrane UDP-glucuronic acid transmembrane transporter activity|UDP-N-acetylgalactosamine transmembrane transporter activity 0 Lorazepam(DB00186) GTAGTTGTAAGAGCAGAATTA 0.328000 C1orf173 127254 broad.mit.edu 37 1 75036970 75036970 + Missense_Mutation SNP C C A TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr1:75036970C>A uc001dgg.2 - 14 4643 c.4424G>T c.(4423-4425)CGA>CTA p.R1475L NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 1475 Glu-rich. ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 TAATCCTAATCGGAATTTTTC 0.562000 C1orf103 55791 broad.mit.edu 37 1 111494883 111494883 + Missense_Mutation SNP T T G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr1:111494883T>G uc001eaa.2 - 2 879 c.623A>C c.(622-624)AAG>ACG p.K208T C1orf103_uc001dzz.2_Intron|C1orf103_uc001eab.2_Intron|C1orf103_uc001eac.1_Intron NM_018372 NP_060842 Q5T3J3 LRIF1_HUMAN receptor-interacting factor 1 isoform 1 208 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix protein binding 0 all_cancers(81;1.02e-05)|all_epithelial(167;1.87e-05)|all_lung(203;0.000234)|Lung NSC(277;0.000451) Lung(183;0.0155)|Colorectal(144;0.0314)|all cancers(265;0.082)|LUSC - Lung squamous cell carcinoma(189;0.0826)|Epithelial(280;0.0891)|COAD - Colon adenocarcinoma(174;0.134) TGCAAGTATCTTTTGCTGCAC 0.448000 RPRD2 23248 broad.mit.edu 37 1 150429979 150429979 + Silent SNP G G A TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr1:150429979G>A uc009wlr.2 + 8 1287 c.1086G>A c.(1084-1086)GTG>GTA p.V362V RPRD2_uc010pcc.1_Silent_p.V336V|RPRD2_uc001eup.3_Silent_p.V336V NM_015203 NP_056018 Q5VT52 RPRD2_HUMAN Regulation of nuclear pre-mRNA domain containing 362 protein binding ovary(1) 1 CTGAACCTGTGACAGATAATC 0.448000 IFI16 3428 broad.mit.edu 37 1 159023326 159023326 + Missense_Mutation SNP A A C TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr1:159023326A>C uc001ftg.2 + 10 2211 c.1921A>C c.(1921-1923)AAT>CAT p.N641H IFI16_uc010pis.1_Missense_Mutation_p.N641H|IFI16_uc001fth.2_Missense_Mutation_p.N184H|IFI16_uc010pit.1_Missense_Mutation_p.N240H NM_005531 NP_005522 Q16666 IF16_HUMAN interferon, gamma-inducible protein 16 697 HIN-200 2. cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent cytoplasm|nuclear speck|nucleolus double-stranded DNA binding|protein binding ovary(1) 1 all_hematologic(112;0.0429) TTTGCAGAAAAATGTAAGGGG 0.353000 TNR 7143 broad.mit.edu 37 1 175355276 175355276 + Missense_Mutation SNP T T C TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr1:175355276T>C uc001gkp.1 - 6 1750 c.1669A>G c.(1669-1671)AGC>GGC p.S557G TNR_uc009wwu.1_Missense_Mutation_p.S557G NM_003285 NP_003276 Q92752 TENR_HUMAN tenascin R precursor 557 Fibronectin type-III 3. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1) 11 Renal(580;0.146) GAGTATTGGCTCAGGGGAGGC 0.602000 NAV1 89796 broad.mit.edu 37 1 201687644 201687644 + Silent SNP C C T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr1:201687644C>T uc001gwu.2 + 3 1334 c.987C>T c.(985-987)GAC>GAT p.D329D NM_020443 NP_065176 Q8NEY1 NAV1_HUMAN neuron navigator 1 329 cell differentiation|nervous system development cytoplasm|microtubule nucleoside-triphosphatase activity|nucleotide binding central_nervous_system(3)|ovary(1) 4 AGGCTGGTGACGCGCCCTCTG 0.692000 OR2M5 127059 broad.mit.edu 37 1 248309375 248309375 + Missense_Mutation SNP A A T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr1:248309375A>T uc010pze.1 + 1 926 c.926A>T c.(925-927)AAG>ATG p.K309M NM_001004690 NP_001004690 A3KFT3 OR2M5_HUMAN olfactory receptor, family 2, subfamily M, 309 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|kidney(1) 3 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0388) GGAAAGGGCAAGTGTGGAGAG 0.428000 C10orf18 54906 broad.mit.edu 37 10 5784428 5784428 + Missense_Mutation SNP C C T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr10:5784428C>T uc001iij.2 + 14 3321 c.2696C>T c.(2695-2697)GCA>GTA p.A899V C10orf18_uc001iik.2_Intron NM_017782 NP_060252 Q5VWN6 CJ018_HUMAN hypothetical protein LOC54906 899 ovary(1)|central_nervous_system(1) 2 AAAACTTTTGCAAGAGAGTGT 0.378000 GATA3 2625 broad.mit.edu 37 10 8115913 8115913 + Missense_Mutation SNP C C T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr10:8115913C>T uc001ika.2 + 6 1816 c.1259C>T c.(1258-1260)ACG>ATG p.T420M GATA3_uc001ijz.2_Missense_Mutation_p.T421M NM_002051 NP_002042 P23771 GATA3_HUMAN GATA binding protein 3 isoform 2 420 aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development nuclear chromatin|nucleolus|nucleoplasm core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding breast(17)|ovary(3)|central_nervous_system(2) 22 ACCACGCCCACGCCGATGCAC 0.637000 F|N|S breast HDR syndrome (HYPOPARATHYROIDISM|SENSORINEURAL DEAFNESS|AND RENAL DISEASE) KIAA1217 56243 broad.mit.edu 37 10 24784102 24784102 + Missense_Mutation SNP A A G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr10:24784102A>G uc001iru.3 + 8 2214 c.1811A>G c.(1810-1812)AAC>AGC p.N604S KIAA1217_uc001irs.2_Missense_Mutation_p.N524S|KIAA1217_uc001irt.3_Missense_Mutation_p.N569S|KIAA1217_uc010qcy.1_Missense_Mutation_p.N569S|KIAA1217_uc010qcz.1_Missense_Mutation_p.N569S|KIAA1217_uc001irv.1_Missense_Mutation_p.N419S|KIAA1217_uc010qda.1_RNA|KIAA1217_uc001irw.2_Missense_Mutation_p.N287S|KIAA1217_uc001irz.2_Missense_Mutation_p.N287S|KIAA1217_uc001irx.2_Missense_Mutation_p.N287S|KIAA1217_uc001iry.2_Missense_Mutation_p.N287S NM_019590 NP_062536 Q5T5P2 SKT_HUMAN sickle tail isoform 1 604 embryonic skeletal system development cytoplasm ovary(5)|skin(2) 7 ACCACAGCCAACAGGAACCAC 0.428000 MYO3A 53904 broad.mit.edu 37 10 26482150 26482150 + Missense_Mutation SNP G G T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr10:26482150G>T uc001isn.2 + 32 4815 c.4455G>T c.(4453-4455)GAG>GAT p.E1485D MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Intron NM_017433 NP_059129 Q8NEV4 MYO3A_HUMAN myosin IIIA 1485 protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 18 GTAAAGGAGAGGAGCCAAAAA 0.348000 PCDH15 65217 broad.mit.edu 37 10 55912869 55912869 + Missense_Mutation SNP G G T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr10:55912869G>T uc001jju.1 - 14 2170 c.1775C>A c.(1774-1776)GCA>GAA p.A592E PCDH15_uc010qhq.1_Missense_Mutation_p.A597E|PCDH15_uc010qhr.1_Missense_Mutation_p.A592E|PCDH15_uc010qhs.1_Missense_Mutation_p.A604E|PCDH15_uc010qht.1_Missense_Mutation_p.A599E|PCDH15_uc010qhu.1_Missense_Mutation_p.A592E|PCDH15_uc001jjv.1_Missense_Mutation_p.A570E|PCDH15_uc010qhv.1_Missense_Mutation_p.A592E|PCDH15_uc010qhw.1_Missense_Mutation_p.A555E|PCDH15_uc010qhx.1_Missense_Mutation_p.A592E|PCDH15_uc010qhy.1_Missense_Mutation_p.A597E|PCDH15_uc010qhz.1_Missense_Mutation_p.A592E|PCDH15_uc010qia.1_Missense_Mutation_p.A570E|PCDH15_uc010qib.1_Missense_Mutation_p.A570E|PCDH15_uc001jjw.2_Missense_Mutation_p.A592E NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 592 Cadherin 5.|Extracellular (Potential). equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) CCTTCGCTCTGCAGGAGGAGC 0.458000 HNSCC(58;0.16) JMJD1C 221037 broad.mit.edu 37 10 64958329 64958329 + Missense_Mutation SNP T T G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr10:64958329T>G uc001jmn.2 - 12 5735 c.5435A>C c.(5434-5436)AAG>ACG p.K1812T JMJD1C_uc001jml.2_Missense_Mutation_p.K1593T|JMJD1C_uc001jmm.2_Missense_Mutation_p.K1524T|JMJD1C_uc010qiq.1_Missense_Mutation_p.K1630T|JMJD1C_uc009xpi.2_Missense_Mutation_p.K1630T|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc009xpk.1_Intron NM_032776 NP_116165 Q15652 JHD2C_HUMAN jumonji domain containing 1C isoform a 1812 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding ovary(4)|breast(1)|central_nervous_system(1) 6 Prostate(12;0.0119)|all_hematologic(501;0.191) TTGACAGAACTTATCACCTAT 0.303000 NOC3L 64318 broad.mit.edu 37 10 96104172 96104172 + Missense_Mutation SNP T T G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr10:96104172T>G uc001kjq.1 - 13 1659 c.1571A>C c.(1570-1572)AAG>ACG p.K524T NM_022451 NP_071896 Q8WTT2 NOC3L_HUMAN nucleolar complex associated 3 homolog 524 nuclear speck|nucleolus binding ovary(1) 1 Colorectal(252;0.0897) CAGCCCTTACTTGGCAAGACC 0.423000 C10orf12 26148 broad.mit.edu 37 10 98744030 98744030 + Silent SNP A A G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr10:98744030A>G uc001kmv.2 + 1 2990 c.2883A>G c.(2881-2883)GAA>GAG p.E961E NM_015652 NP_056467 Q8N655 CJ012_HUMAN hypothetical protein LOC26148 961 skin(2) 2 Colorectal(252;0.172) Epithelial(162;6.35e-09)|all cancers(201;3.21e-07) TGGAGCCAGAAGATGGCAGTG 0.478000 ARHGAP19 84986 broad.mit.edu 37 10 99003882 99003882 + Missense_Mutation SNP T T G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr10:99003882T>G uc001knb.2 - 8 1057 c.1028A>C c.(1027-1029)AAG>ACG p.K343T ARHGAP19_uc001kmy.2_RNA|ARHGAP19_uc001kna.2_Missense_Mutation_p.K334T|ARHGAP19_uc009xvi.2_RNA|ARHGAP19_uc009xvj.2_Missense_Mutation_p.K314T|ARHGAP19_uc009xvk.2_Missense_Mutation_p.K137T NM_032900 NP_116289 Q14CB8 RHG19_HUMAN Rho GTPase activating protein 19 343 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|nucleus GTPase activator activity 0 Colorectal(252;0.0854) Epithelial(162;7.65e-09)|all cancers(201;4.49e-07) CTGAAAGGACTTAGTATGACA 0.448000 TUBGCP2 10844 broad.mit.edu 37 10 135099058 135099058 + Silent SNP C C T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr10:135099058C>T uc001lmg.1 - 12 2154 c.1797G>A c.(1795-1797)GCG>GCA p.A599A TUBGCP2_uc001lmf.1_Silent_p.A192A|TUBGCP2_uc010qvc.1_Silent_p.A627A|TUBGCP2_uc009ybk.1_Intron|TUBGCP2_uc010qvd.1_Silent_p.A469A|TUBGCP2_uc001lmh.1_RNA NM_006659 NP_006650 Q9BSJ2 GCP2_HUMAN tubulin, gamma complex associated protein 2 599 G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly centrosome|cytoplasmic microtubule|cytosol|spindle pole protein binding 0 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05) CGTGCGCCATCGCCTTCTCCT 0.587000 OR2D2 120776 broad.mit.edu 37 11 6912920 6912920 + Missense_Mutation SNP G G C rs113111396 TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr11:6912920G>C uc010rau.1 - 1 812 c.812C>G c.(811-813)TCG>TGG p.S271W NM_003700 NP_003691 Q9H210 OR2D2_HUMAN olfactory receptor, family 2, subfamily D, 271 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|skin(1) 2 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) AACAGACACCGATTTTTCCTG 0.438000 CTR9 9646 broad.mit.edu 37 11 10776559 10776559 + Missense_Mutation SNP G G A TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr11:10776559G>A uc001mja.2 + 3 348 c.199G>A c.(199-201)GCA>ACA p.A67T NM_014633 NP_055448 Q6PD62 CTR9_HUMAN SH2 domain binding protein 1 67 TPR 1. histone H2B ubiquitination|histone monoubiquitination Cdc73/Paf1 complex|nuclear speck ovary(2) 2 all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111) GTTGGAAGCAGCACGTATAGA 0.348000 MPPED2 744 broad.mit.edu 37 11 30557717 30557717 + Missense_Mutation SNP T T C TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr11:30557717T>C uc001msr.2 - 2 254 c.134A>G c.(133-135)GAC>GGC p.D45G MPPED2_uc001msq.3_Missense_Mutation_p.D45G|MPPED2_uc009yji.2_5'UTR NM_001584 NP_001575 Q15777 MPPD2_HUMAN metallophosphoesterase domain containing 2 45 nervous system development hydrolase activity|metal ion binding skin(1) 1 TGGGATGGGGTCGACCCTAAA 0.438000 LDLRAD3 143458 broad.mit.edu 37 11 36250770 36250770 + Silent SNP A A G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr11:36250770A>G uc001mwk.1 + 6 898 c.861A>G c.(859-861)CAA>CAG p.Q287Q LDLRAD3_uc010rey.1_Silent_p.Q238Q|LDLRAD3_uc010rez.1_Silent_p.Q166Q|LDLRAD3_uc010rfa.1_RNA NM_174902 NP_777562 Q86YD5 LRAD3_HUMAN low density lipoprotein receptor class A domain 287 Cytoplasmic (Potential). integral to membrane receptor activity central_nervous_system(1) 1 all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177) all_hematologic(20;0.124) CTCTGAACCAAGCCGACCTGC 0.652000 RAG1 5896 broad.mit.edu 37 11 36595301 36595301 + Silent SNP T T G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr11:36595301T>G uc001mwu.3 + 2 571 c.447T>G c.(445-447)ACT>ACG p.T149T RAG1_uc001mwt.2_RNA NM_000448 NP_000439 P15918 RAG1_HUMAN recombination activating gene 1 149 Interaction with importin alpha-1. histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination nucleus endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1) 5 all_lung(20;0.226) all_hematologic(20;0.107) AGAGAGCTACTTCCTGGCCGG 0.488000 Familial_Hemophagocytic_Lymphohistiocytosis OR4A5 81318 broad.mit.edu 37 11 51412308 51412308 + Missense_Mutation SNP A A C TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr11:51412308A>C uc001nhi.1 - 1 88 c.88T>G c.(88-90)TTA>GTA p.L30V NM_001005272 NP_001005272 Q8NH83 OR4A5_HUMAN olfactory receptor, family 4, subfamily A, 30 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_lung(304;0.236) TATGTGAGTAAAAACATGACA 0.418000 OR4S2 219431 broad.mit.edu 37 11 55419250 55419250 + Nonsense_Mutation SNP G G T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr11:55419250G>T uc001nhs.1 + 1 871 c.871G>T c.(871-873)GAA>TAA p.E291* NM_001004059 NP_001004059 Q8NH73 OR4S2_HUMAN olfactory receptor, family 4, subfamily S, 291 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_epithelial(135;0.0748) GAGAAATGCAGAAGTAAAGAA 0.373000 OR5D16 390144 broad.mit.edu 37 11 55606243 55606243 + Missense_Mutation SNP A A G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr11:55606243A>G uc010rio.1 + 1 16 c.16A>G c.(16-18)AGA>GGA p.R6G NM_001005496 NP_001005496 Q8NGK9 OR5DG_HUMAN olfactory receptor, family 5, subfamily D, 6 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(4)|skin(1) 5 all_epithelial(135;0.208) TCTGACAGAGAGAAATACGAC 0.413000 OR8J3 81168 broad.mit.edu 37 11 55905083 55905083 + Missense_Mutation SNP T T A TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr11:55905083T>A uc010riz.1 - 1 112 c.112A>T c.(112-114)ACC>TCC p.T38S NM_001004064 NP_001004064 Q8NGG0 OR8J3_HUMAN olfactory receptor, family 8, subfamily J, 38 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Esophageal squamous(21;0.00693) CCTGCCATGGTCAGCACATAG 0.483000 OR5B3 441608 broad.mit.edu 37 11 58170447 58170447 + Missense_Mutation SNP A A G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr11:58170447A>G uc010rkf.1 - 1 436 c.436T>C c.(436-438)TCC>CCC p.S146P NM_001005469 NP_001005469 Q8NH48 OR5B3_HUMAN olfactory receptor, family 5, subfamily B, 146 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Esophageal squamous(5;0.0027) Breast(21;0.0778) CAGAGGTAGGAGCCTATGGCC 0.483000 BAD 572 broad.mit.edu 37 11 64037689 64037689 + Missense_Mutation SNP A A G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr11:64037689A>G uc001nzd.2 - 4 581 c.499T>C c.(499-501)TCC>CCC p.S167P BAD_uc001nzc.2_Missense_Mutation_p.S167P|GPR137_uc009ypj.1_5'UTR NM_032989 NP_116784 Q92934 BAD_HUMAN BCL2-associated agonist of cell death 167 activation of pro-apoptotic gene products|ADP metabolic process|ATP metabolic process|cellular response to hypoxia|cellular response to mechanical stimulus|cellular response to nicotine|glucose homeostasis|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|pore complex assembly|positive regulation of epithelial cell proliferation|positive regulation of glucokinase activity|positive regulation of insulin secretion|positive regulation of mitochondrial membrane potential|positive regulation of type B pancreatic cell development|regulation of mitochondrial membrane permeability|type B pancreatic cell proliferation cytosol|mitochondrial outer membrane caspase activator activity|phospholipid binding|protein kinase binding central_nervous_system(1) 1 GGTCACTGGGAGGGGGCGGAG 0.627000 CCDC88B 283234 broad.mit.edu 37 11 64112239 64112239 + Silent SNP G G A TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr11:64112239G>A uc001nzy.2 + 14 2270 c.2226G>A c.(2224-2226)GAG>GAA p.E742E CCDC88B_uc009ypo.1_Silent_p.E739E|CCDC88B_uc001nzz.1_Silent_p.E391E NM_032251 NP_115627 A6NC98 CC88B_HUMAN coiled-coil domain containing 88 742 Potential. microtubule cytoskeleton organization cytoplasm microtubule binding ovary(3)|skin(1) 4 GAAAGGCTGAGGCCCTTGGAG 0.662000 MED17 9440 broad.mit.edu 37 11 93542936 93542936 + Missense_Mutation SNP G G T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr11:93542936G>T uc001pem.3 + 11 1913 c.1638G>T c.(1636-1638)TGG>TGT p.W546C NM_004268 NP_004259 Q9NVC6 MED17_HUMAN mediator complex subunit 17 546 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex|transcription factor complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding ovary(1) 1 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) TTATGGGCTGGCAAGTACTGA 0.488000 CNTN5 53942 broad.mit.edu 37 11 99944940 99944940 + Missense_Mutation SNP A A C TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr11:99944940A>C uc001pga.2 + 13 1833 c.1494A>C c.(1492-1494)GAA>GAC p.E498D CNTN5_uc009ywv.1_Missense_Mutation_p.E498D|CNTN5_uc001pfz.2_Missense_Mutation_p.E498D|CNTN5_uc001pgb.2_Missense_Mutation_p.E424D NM_014361 NP_055176 O94779 CNTN5_HUMAN contactin 5 isoform long 498 Ig-like C2-type 5. cell adhesion anchored to membrane|plasma membrane protein binding skin(3)|ovary(2)|pancreas(2)|breast(1) 8 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) AAGACCAAGAAGTTGTCATAG 0.378000 DYNC2H1 79659 broad.mit.edu 37 11 102984412 102984412 + Missense_Mutation SNP A A C TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr11:102984412A>C uc001pho.2 + 2 486 c.342A>C c.(340-342)CAA>CAC p.Q114H DYNC2H1_uc001phn.1_Missense_Mutation_p.Q114H|DYNC2H1_uc009yxe.1_Missense_Mutation_p.Q114H NM_001080463 NP_001073932 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 114 Stem (By similarity). cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity 0 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) CAGTACGGCAAGTATTCGCAC 0.318000 OR10S1 219873 broad.mit.edu 37 11 123848218 123848218 + Missense_Mutation SNP T T G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr11:123848218T>G uc001pzm.1 - 1 181 c.181A>C c.(181-183)ACT>CCT p.T61P NM_001004474 NP_001004474 Q8NGN2 O10S1_HUMAN olfactory receptor, family 10, subfamily S, 61 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) GAGCCCACAGTTAGGAGGATG 0.532000 ADAMTS15 170689 broad.mit.edu 37 11 130341245 130341245 + Missense_Mutation SNP G G T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr11:130341245G>T uc010scd.1 + 7 2045 c.2045G>T c.(2044-2046)TGC>TTC p.C682F NM_139055 NP_620686 Q8TE58 ATS15_HUMAN a disintegrin-like and metalloprotease 682 Cys-rich. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(2)|pancreas(1)|lung(1)|skin(1) 5 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215) AATAAGAGCTGCAAGAAGGTG 0.557000 NDUFA9 4704 broad.mit.edu 37 12 4796211 4796211 + Silent SNP C C T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr12:4796211C>T uc001qnc.2 + 11 1081 c.1071C>T c.(1069-1071)CGC>CGT p.R357R NDUFA9_uc010ses.1_Silent_p.R138R NM_005002 NP_004993 Q16795 NDUA9_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha 357 mitochondrial electron transport, NADH to ubiquinone|sodium ion transport mitochondrial matrix|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity|protein binding ovary(1) 1 NADH(DB00157) GGCGTCATCGCACTTACCGCT 0.527000 LRP6 4040 broad.mit.edu 37 12 12334066 12334066 + Missense_Mutation SNP T T G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr12:12334066T>G uc001rah.3 - 6 1426 c.1284A>C c.(1282-1284)GAA>GAC p.E428D BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.E428D NM_002336 NP_002327 O75581 LRP6_HUMAN low density lipoprotein receptor-related protein 428 Extracellular (Potential).|LDL-receptor class B 7.|Beta-propeller 2. cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding lung(4)|skin(4)|ovary(2)|kidney(1)|central_nervous_system(1) 12 Prostate(47;0.0865) GCCTTGTCACTTCTATTCGAT 0.473000 KRAS 3845 broad.mit.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C T rs121913530 TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr12:25398285C>T uc001rgp.1 - 2 215 c.34G>A c.(34-36)GGT>AGT p.G12S KRAS_uc001rgq.1_Missense_Mutation_p.G12S|KRAS_uc001rgr.2_RNA NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12G(6)|p.G12N(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1) large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1) 21052 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) CCTACGCCACCAGCTCCAACT 0.348000 G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12C(CALU1_LUNG)|G12C(NCIH2030_LUNG)|G12C(LU99_LUNG)|G12C(NCIH1792_LUNG)|G12R(KP2_PANCREAS)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(NCIH2122_LUNG)|G12C(NCIH358_LUNG)|G12R(PSN1_PANCREAS)|G12C(KYSE410_OESOPHAGUS)|G12S(A549_LUNG)|G12R(HUPT3_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12C(HCC44_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(SW1463_LARGE_INTESTINE)|G12C(NCIH23_LUNG)|G12C(LU65_LUNG)|G12C(NCIH1373_LUNG)|G12C(MIAPACA2_PANCREAS)|G12R(HS274T_BREAST)|G12S(LS123_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(OV56_OVARY)|G12C(IALM_LUNG) 119 Mis pancreatic|colorectal|lung|thyroid|AML|others Cardiofaciocutaneous_syndrome|Noonan_syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) SYT10 341359 broad.mit.edu 37 12 33559774 33559774 + Missense_Mutation SNP C C G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr12:33559774C>G uc001rll.1 - 3 1324 c.1027G>C c.(1027-1029)GAT>CAT p.D343H SYT10_uc009zju.1_Missense_Mutation_p.D153H NM_198992 NP_945343 Q6XYQ8 SYT10_HUMAN synaptotagmin X 343 Cytoplasmic (Potential). cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity ovary(1)|skin(1) 2 Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334) CTGGAGAGATCAGAGACTTCA 0.353000 AQP5 362 broad.mit.edu 37 12 50358929 50358929 + Missense_Mutation SNP G G A rs139421403 byFrequency TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr12:50358929G>A uc001rvo.2 + 4 1289 c.767G>A c.(766-768)CGG>CAG p.R256Q AQP6_uc001rvp.1_5'Flank|AQP6_uc001rvq.1_5'Flank NM_001651 NP_001642 P55064 AQP5_HUMAN aquaporin 5 256 Cytoplasmic (Potential). carbon dioxide transport|excretion|odontogenesis|pancreatic juice secretion apical plasma membrane|integral to plasma membrane protein binding|water channel activity 0 CGGGAAGAGCGGAAGAAGACC 0.592000 CDK2 1017 broad.mit.edu 37 12 56364997 56364997 + Missense_Mutation SNP C C T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr12:56364997C>T uc001sit.3 + 6 995 c.758C>T c.(757-759)CCT>CTT p.P253L CDK2_uc001siu.3_Missense_Mutation_p.P219L|CDK2_uc010spy.1_Missense_Mutation_p.P193L|RAB5B_uc001siv.2_5'Flank|RAB5B_uc001siw.2_5'Flank|RAB5B_uc009zog.2_5'Flank|RAB5B_uc010spz.1_5'Flank NM_001798 NP_001789 P24941 CDK2_HUMAN cyclin-dependent kinase 2 isoform 1 253 Protein kinase. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|blood coagulation|cell division|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA replication|G1/S transition of mitotic cell cycle|G2 phase of mitotic cell cycle|G2/M transition of mitotic cell cycle|histone phosphorylation|M/G1 transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation|Ras protein signal transduction|regulation of DNA replication|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle cyclin-dependent protein kinase holoenzyme complex|cytosol ATP binding|cyclin-dependent protein kinase activity|identical protein binding stomach(1)|central_nervous_system(1) 2 UCEC - Uterine corpus endometrioid carcinoma (6;0.123)|OV - Ovarian serous cystadenocarcinoma(18;0.235) AAAGTTGTACCTCCCCTGGAT 0.517000 LRP1 4035 broad.mit.edu 37 12 57578891 57578891 + Silent SNP C C T rs144748998 TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr12:57578891C>T uc001snd.2 + 40 6832 c.6366C>T c.(6364-6366)CGC>CGT p.R2122R NM_002332 NP_002323 Q07954 LRP1_HUMAN low density lipoprotein-related protein 1 2122 Extracellular (Potential). aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2) 22 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) CTATCAAGCGCGGGAGCAAAG 0.592000 XPOT 11260 broad.mit.edu 37 12 64814012 64814012 + Missense_Mutation SNP T T G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr12:64814012T>G uc001ssb.2 + 7 1078 c.652T>G c.(652-654)TTA>GTA p.L218V XPOT_uc009zqm.1_Missense_Mutation_p.L128V NM_007235 NP_009166 O43592 XPOT_HUMAN tRNA exportin 218 Necessary for interaction with Ran, nuclear localization and nuclear import. intracellular protein transport|tRNA export from nucleus cytoplasm|nucleoplasm protein transporter activity|tRNA binding ovary(2) 2 GBM - Glioblastoma multiforme(28;0.0404) TTGGATAGACTTATCCCTTAT 0.318000 NUP107 57122 broad.mit.edu 37 12 69127260 69127260 + Missense_Mutation SNP A A C TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr12:69127260A>C uc001suf.2 + 24 2245 c.2130A>C c.(2128-2130)GAA>GAC p.E710D NUP107_uc001sug.2_Missense_Mutation_p.E469D|NUP107_uc010stj.1_Missense_Mutation_p.E681D NM_020401 NP_065134 P57740 NU107_HUMAN nucleoporin 107kDa 710 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding skin(1) 1 Breast(13;6.25e-06) Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694) CTGCAAAAGAAGTATTTGTGA 0.373000 ACSS3 79611 broad.mit.edu 37 12 81472095 81472095 + Missense_Mutation SNP T T G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr12:81472095T>G uc001szl.1 + 1 287 c.196T>G c.(196-198)TTC>GTC p.F66V ACSS3_uc001szm.1_Missense_Mutation_p.F66V NM_024560 NP_078836 Q9H6R3 ACSS3_HUMAN acyl-CoA synthetase short-chain family member 3 66 mitochondrion acetate-CoA ligase activity|ATP binding ovary(1)|lung(1)|central_nervous_system(1)|skin(1) 4 CAAGACCCACTTCGCAGCCTC 0.662000 TMCC3 57458 broad.mit.edu 37 12 94972170 94972170 + Silent SNP C C T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr12:94972170C>T uc001tdj.2 - 3 1249 c.1131G>A c.(1129-1131)CAG>CAA p.Q377Q TMCC3_uc001tdi.2_Silent_p.Q346Q NM_020698 NP_065749 Q9ULS5 TMCC3_HUMAN transmembrane and coiled-coil domain family 3 377 Potential. integral to membrane ovary(1)|skin(1) 2 GGAAAGGTACCTGGATGTCCC 0.532000 NBEA 26960 broad.mit.edu 37 13 36125129 36125129 + Missense_Mutation SNP C C T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr13:36125129C>T uc001uvb.2 + 43 6972 c.6766C>T c.(6766-6768)CGG>TGG p.R2256W NBEA_uc010abi.2_Missense_Mutation_p.R912W|NBEA_uc010tee.1_Missense_Mutation_p.R49W|NBEA_uc010tef.1_Missense_Mutation_p.R49W|NBEA_uc010teg.1_Missense_Mutation_p.R49W NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN neurobeachin 2256 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding ovary(9)|large_intestine(2) 11 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) TAGCTTGCCTCGGGTTGGAGT 0.358000 SPG20 23111 broad.mit.edu 37 13 36888425 36888425 + Silent SNP G G T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr13:36888425G>T uc001uvn.2 - 7 1692 c.1422C>A c.(1420-1422)ACC>ACA p.T474T SPG20_uc010ten.1_Silent_p.T464T|SPG20_uc001uvm.2_Silent_p.T474T|SPG20_uc001uvo.2_Silent_p.T474T|SPG20_uc001uvq.2_Silent_p.T474T NM_001142296 NP_001135768 Q8N0X7 SPG20_HUMAN spartin 474 cell death cytoplasm ubiquitin protein ligase binding 0 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026) AAAGTCCCTTGGTGACAGCTG 0.423000 OR4L1 122742 broad.mit.edu 37 14 20529098 20529098 + Silent SNP A A C TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr14:20529098A>C uc001vwn.1 + 1 895 c.895A>C c.(895-897)AGA>CGA p.R299R NM_001004717 NP_001004717 Q8NH43 OR4L1_HUMAN olfactory receptor, family 4, subfamily L, 299 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) AGAGGCCATAAGAAAATTACG 0.323000 SALL2 6297 broad.mit.edu 37 14 21991766 21991766 + Missense_Mutation SNP T T C TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr14:21991766T>C uc001wbe.2 - 2 2378 c.2096A>G c.(2095-2097)AAG>AGG p.K699R SALL2_uc010tly.1_Missense_Mutation_p.K697R|SALL2_uc010tlz.1_Missense_Mutation_p.K562R|SALL2_uc001wbf.3_Intron|SALL2_uc010tma.1_Missense_Mutation_p.K564R|SALL2_uc001wbg.1_Intron NM_005407 NP_005398 Q9Y467 SALL2_HUMAN sal-like 2 699 C2H2-type 5. DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|large_intestine(1) 3 all_cancers(95;0.000662) GBM - Glioblastoma multiforme(265;0.0151) ATTGGTGAACTTCTTCTGGCA 0.602000 HECTD1 25831 broad.mit.edu 37 14 31637631 31637631 + Missense_Mutation SNP C C T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr14:31637631C>T uc001wrc.1 - 10 1984 c.1495G>A c.(1495-1497)GAT>AAT p.D499N HECTD1_uc001wrd.1_Missense_Mutation_p.D14N NM_015382 NP_056197 Q9ULT8 HECD1_HUMAN HECT domain containing 1 499 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular metal ion binding|protein binding|ubiquitin-protein ligase activity ovary(3)|large_intestine(1)|lung(1) 5 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) TTGTTTGTATCTTTCTTTTTC 0.328000 FAM179B 23116 broad.mit.edu 37 14 45432035 45432035 + Silent SNP T T C TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr14:45432035T>C uc001wvv.2 + 1 620 c.411T>C c.(409-411)TAT>TAC p.Y137Y FAM179B_uc001wvw.2_Silent_p.Y137Y|FAM179B_uc010anc.2_RNA|KLHL28_uc001wvq.2_5'Flank|KLHL28_uc001wvr.2_5'Flank|FAM179B_uc010anb.1_Silent_p.Y137Y|FAM179B_uc001wvu.2_Silent_p.Y137Y NM_015091 NP_055906 Q9Y4F4 F179B_HUMAN hypothetical protein LOC23116 137 binding skin(2)|upper_aerodigestive_tract(1) 3 AAGCTTTGTATCGGGCACTGG 0.637000 PRKCH 5583 broad.mit.edu 37 14 61995851 61995851 + Missense_Mutation SNP T T G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr14:61995851T>G uc001xfn.2 + 11 1797 c.1492T>G c.(1492-1494)TTC>GTC p.F498V PRKCH_uc010tsa.1_Missense_Mutation_p.F337V|PRKCH_uc010tsb.1_Missense_Mutation_p.F66V NM_006255 NP_006246 P24723 KPCL_HUMAN protein kinase C, eta 498 Protein kinase. intracellular signal transduction|platelet activation cytosol|plasma membrane ATP binding|enzyme binding|metal ion binding|protein kinase C activity ovary(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|large_intestine(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182) ACTGGCAGACTTCGGAATGTG 0.527000 MAP3K9 4293 broad.mit.edu 37 14 71209259 71209259 + Missense_Mutation SNP T T G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr14:71209259T>G uc001xmm.2 - 6 1376 c.1376A>C c.(1375-1377)AAG>ACG p.K459T MAP3K9_uc010ttk.1_Missense_Mutation_p.K196T|MAP3K9_uc001xmk.2_Missense_Mutation_p.K153T|MAP3K9_uc001xml.2_Missense_Mutation_p.K459T NM_033141 NP_149132 P80192 M3K9_HUMAN mitogen-activated protein kinase kinase kinase 459 activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity stomach(2)|lung(1)|central_nervous_system(1)|skin(1) 5 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) CTCCTGGTTCTTCTGCTGCAG 0.607000 C15orf55 256646 broad.mit.edu 37 15 34648354 34648354 + Silent SNP C C T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr15:34648354C>T uc001zif.2 + 7 2216 c.2061C>T c.(2059-2061)GCC>GCT p.A687A C15orf55_uc010ucc.1_Silent_p.A715A|C15orf55_uc010ucd.1_Silent_p.A705A NM_175741 NP_786883 Q86Y26 NUT_HUMAN nuclear protein in testis 687 cytoplasm|nucleus BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3) midline_organs(25)|ovary(2)|lung(2)|skin(1) 30 all_lung(180;2.78e-08) all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249) CTTCAGGAGCCATGTGGGGAG 0.562000 T BRD3|BRD4 lethal midline carcinoma DNAJC17 55192 broad.mit.edu 37 15 41066576 41066576 + Missense_Mutation SNP T T C TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr15:41066576T>C uc001zms.1 - 9 670 c.659A>G c.(658-660)GAG>GGG p.E220G DNAJC17_uc010bbz.1_RNA|DNAJC17_uc010bca.1_RNA|DNAJC17_uc010bcb.1_RNA NM_018163 NP_060633 Q9NVM6 DJC17_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 17 220 RRM. protein folding heat shock protein binding|nucleotide binding|RNA binding|unfolded protein binding 0 all_cancers(109;4.16e-14)|all_epithelial(112;9.68e-12)|Lung NSC(122;3.19e-09)|all_lung(180;6.45e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166) GGTTGCAAACTCCACCACAGC 0.577000 UBR1 197131 broad.mit.edu 37 15 43308000 43308000 + Missense_Mutation SNP T T G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr15:43308000T>G uc001zqq.2 - 29 3161 c.3095A>C c.(3094-3096)AAG>ACG p.K1032T UBR1_uc010udk.1_Missense_Mutation_p.K1032T NM_174916 NP_777576 Q8IWV7 UBR1_HUMAN ubiquitin protein ligase E3 component n-recognin 1032 cellular response to leucine|negative regulation of TOR signaling cascade cytosol leucine binding|zinc ion binding lung(1) 1 all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214) AGCCATGATCTTCTGGCGATG 0.363000 SLC24A5 283652 broad.mit.edu 37 15 48434341 48434341 + Missense_Mutation SNP A A C TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr15:48434341A>C uc001zwe.2 + 9 1369 c.1296A>C c.(1294-1296)GAA>GAC p.E432D SLC24A5_uc010bel.2_Missense_Mutation_p.E372D|MYEF2_uc001zwg.3_3'UTR|MYEF2_uc001zwh.3_3'UTR|MYEF2_uc001zwi.3_3'UTR|MYEF2_uc001zwj.3_3'UTR|SLC24A5_uc001zwk.2_Missense_Mutation_p.E63D NM_205850 NP_995322 Q71RS6 NCKX5_HUMAN solute carrier family 24, member 5 precursor 432 Cytoplasmic (Potential). response to stimulus integral to membrane|melanosome|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity 0 all_lung(180;0.00217) all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07) CTCCTGCAGAAGTAAACAGCA 0.358000 MYEF2 50804 broad.mit.edu 37 15 48435202 48435202 + Missense_Mutation SNP A A C TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr15:48435202A>C uc001zwi.3 - 17 1830 c.1706T>G c.(1705-1707)TTT>TGT p.F569C MYEF2_uc001zwg.3_Missense_Mutation_p.F107C|MYEF2_uc001zwh.3_Missense_Mutation_p.F157C|MYEF2_uc001zwj.3_Missense_Mutation_p.F545C NM_016132 NP_057216 Q9P2K5 MYEF2_HUMAN myelin expression factor 2 569 RRM 3. transcription, DNA-dependent Golgi apparatus|nucleus DNA binding|nucleotide binding|RNA binding lung(2)|ovary(1) 3 all_lung(180;0.00217) all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07) TGGGGAGTCAAATCTGACTGT 0.358000 MYO9A 4649 broad.mit.edu 37 15 72244202 72244202 + Missense_Mutation SNP T T G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr15:72244202T>G uc002atl.3 - 15 2691 c.2218A>C c.(2218-2220)AGT>CGT p.S740R MYO9A_uc010biq.2_Missense_Mutation_p.S335R|MYO9A_uc002atn.1_Missense_Mutation_p.S721R NM_006901 NP_008832 B2RTY4 MYO9A_HUMAN myosin IXA 740 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity ovary(1)|pancreas(1)|skin(1) 3 CTATCCATACTTTTCAAAATT 0.348000 PKD1 5310 broad.mit.edu 37 16 2140438 2140438 + Missense_Mutation SNP C C T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr16:2140438C>T uc002cos.1 - 45 12501 c.12292G>A c.(12292-12294)GCC>ACC p.A4098T PKD1_uc002cot.1_Missense_Mutation_p.A4097T|MIR1225_hsa-mir-1225|MI0006311_5'Flank NM_001009944 NP_001009944 P98161 PKD1_HUMAN polycystin 1 isoform 1 precursor 4098 Helical; (Potential). calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding central_nervous_system(2)|skin(1) 3 AGCCGTAGGGCGCCCCACAGC 0.682000 PDILT 204474 broad.mit.edu 37 16 20371934 20371934 + Missense_Mutation SNP A A G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr16:20371934A>G uc002dhc.1 - 11 1685 c.1462T>C c.(1462-1464)TTC>CTC p.F488L NM_174924 NP_777584 Q8N807 PDILT_HUMAN protein disulfide isomerase-like, testis 488 cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis endoplasmic reticulum isomerase activity large_intestine(1) 1 CTTTCCAGGAAGTCAGAGAAG 0.478000 ACSM2B 348158 broad.mit.edu 37 16 20566689 20566689 + Silent SNP T T C TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr16:20566689T>C uc002dhj.3 - 5 708 c.498A>G c.(496-498)GAA>GAG p.E166E ACSM2B_uc002dhk.3_Silent_p.E166E|ACSM2B_uc010bwf.1_Silent_p.E166E NM_182617 NP_872423 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 166 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding skin(3)|ovary(1)|central_nervous_system(1) 5 CTGTGTCCACTTCTTGGATGA 0.448000 ACSM1 116285 broad.mit.edu 37 16 20702409 20702409 + Missense_Mutation SNP T T G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr16:20702409T>G uc002dhm.1 - 1 170 c.102A>C c.(100-102)GAA>GAC p.E34D ACSM1_uc002dhn.1_RNA|ACSM1_uc010bwg.1_Missense_Mutation_p.E34D NM_052956 NP_443188 Q08AH1 ACSM1_HUMAN acyl-CoA synthetase medium-chain family member 34 benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process mitochondrial matrix acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding central_nervous_system(1)|skin(1) 2 GGGCTCCAAATTCTGATAAAG 0.498000 ACSM3 6296 broad.mit.edu 37 16 20808246 20808246 + Silent SNP G G A TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr16:20808246G>A uc002dhr.2 + 14 1900 c.1713G>A c.(1711-1713)GGG>GGA p.G571G ERI2_uc002dht.3_3'UTR|ACSM3_uc010vba.1_Silent_p.G600G|ERI2_uc002dhs.2_Intron|ERI2_uc010vbb.1_3'UTR|ERI2_uc010bwh.2_3'UTR|ERI2_uc010vbc.1_3'UTR|ERI2_uc002dhu.1_3'UTR NM_005622 NP_005613 Q53FZ2 ACSM3_HUMAN SA hypertension-associated homolog isoform 1 571 regulation of blood pressure mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding ovary(1) 1 CTATCAGTGGGAAGACAAAAA 0.318000 HEATR3 55027 broad.mit.edu 37 16 50106621 50106621 + Silent SNP A A G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr16:50106621A>G uc002efw.2 + 5 780 c.618A>G c.(616-618)TCA>TCG p.S206S HEATR3_uc002efx.2_Silent_p.S120S NM_182922 NP_891552 Q7Z4Q2 HEAT3_HUMAN HEAT repeat containing 3 206 binding ovary(1)|skin(1) 2 TGGCTATTTCAGTAGGTAAGT 0.358000 CHD9 80205 broad.mit.edu 37 16 53243432 53243432 + Silent SNP T T C TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr16:53243432T>C uc002ehb.2 + 2 1655 c.1491T>C c.(1489-1491)TAT>TAC p.Y497Y CHD9_uc002egy.2_Silent_p.Y497Y|CHD9_uc002egz.1_Silent_p.Y497Y|CHD9_uc002eha.1_Silent_p.Y497Y|CHD9_uc002ehc.2_Silent_p.Y497Y|CHD9_uc002ehd.2_Silent_p.Y23Y NM_025134 NP_079410 Q3L8U1 CHD9_HUMAN chromodomain helicase DNA binding protein 9 497 cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1) 7 all_cancers(37;0.0212) CTGGGACATATACTAAGTTGC 0.363000 PLA2G15 23659 broad.mit.edu 37 16 68289889 68289889 + Silent SNP T T G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr16:68289889T>G uc002evr.2 + 5 806 c.723T>G c.(721-723)GCT>GCG p.A241A PLA2G15_uc010vld.1_Missense_Mutation_p.F200V|PLA2G15_uc010vle.1_Silent_p.A147A|PLA2G15_uc010vlf.1_Intron|PLA2G15_uc002evs.2_Silent_p.A62A NM_012320 NP_036452 Q8NCC3 PAG15_HUMAN lysophospholipase 3 (lysosomal phospholipase A2) 241 fatty acid catabolic process extracellular region|lysosome lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding ovary(1) 1 GCGTCCTGGCTTCAGGTAAGA 0.652000 HYDIN 54768 broad.mit.edu 37 16 70917971 70917971 + Silent SNP G G A TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr16:70917971G>A uc002ezr.2 - 59 9956 c.9828C>T c.(9826-9828)TCC>TCT p.S3276S NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN hydrocephalus inducing isoform a 3277 ovary(1)|skin(1) 2 Ovarian(137;0.0654) GCTGTCCTCCGGAAGGAATGG 0.587000 TRPV3 162514 broad.mit.edu 37 17 3447882 3447882 + Missense_Mutation SNP T T C TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr17:3447882T>C uc002fvt.1 - 4 624 c.302A>G c.(301-303)AAC>AGC p.N101S TRPV3_uc010vrh.1_Missense_Mutation_p.N85S|TRPV3_uc010vri.1_Intron|TRPV3_uc010vrj.1_Missense_Mutation_p.N85S|TRPV3_uc010vrk.1_RNA|TRPV3_uc010vrl.1_Missense_Mutation_p.N85S|TRPV3_uc010vrm.1_RNA|TRPV3_uc002fvr.2_Missense_Mutation_p.N101S|TRPV3_uc002fvu.2_Missense_Mutation_p.N101S NM_145068 NP_659505 Q8NET8 TRPV3_HUMAN transient receptor potential cation channel, 101 Cytoplasmic (Potential). integral to membrane calcium channel activity ovary(4) 4 Menthol(DB00825) CCTGGGGCTGTTGGGATTGGA 0.617000 PIK3R6 146850 broad.mit.edu 37 17 8731507 8731507 + Silent SNP C C T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr17:8731507C>T uc002glq.1 - 12 1554 c.1314G>A c.(1312-1314)AGG>AGA p.R438R PIK3R6_uc002glr.1_RNA|PIK3R6_uc002gls.1_RNA NM_001010855 NP_001010855 Q5UE93 PI3R6_HUMAN phosphoinositide-3-kinase, regulatory subunit 6 438 platelet activation cytosol 0 TCTCCCGTTTCCTAgcaatgg 0.328000 GAS7 8522 broad.mit.edu 37 17 9837496 9837496 + Missense_Mutation SNP T T G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr17:9837496T>G uc002gmg.1 - 9 1033 c.872A>C c.(871-873)AAG>ACG p.K291T GAS7_uc010vvc.1_Missense_Mutation_p.K105T|GAS7_uc002gmh.1_Missense_Mutation_p.K151T|GAS7_uc010vvd.1_Missense_Mutation_p.K243T|GAS7_uc002gmi.2_Missense_Mutation_p.K227T|GAS7_uc002gmj.1_Missense_Mutation_p.K231T|GAS7_uc010coh.1_Missense_Mutation_p.K231T NM_201433 NP_958839 O60861 GAS7_HUMAN growth arrest-specific 7 isoform c 291 cell cycle arrest cytoplasm sequence-specific DNA binding transcription factor activity lung(1)|pancreas(1) 2 GGCAGAGAACTTGAGGTGAAC 0.428000 T MLL AML* SUPT6H 6830 broad.mit.edu 37 17 27010097 27010097 + Missense_Mutation SNP A A G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr17:27010097A>G uc002hby.2 + 15 1955 c.1865A>G c.(1864-1866)AAG>AGG p.K622R SUPT6H_uc010crt.2_Missense_Mutation_p.K622R NM_003170 NP_003161 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog 622 chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity ovary(2)|skin(1) 3 Lung NSC(42;0.00431) ACCCCCACCAAGAAAGGTAGA 0.517000 SUPT6H 6830 broad.mit.edu 37 17 27014227 27014227 + Missense_Mutation SNP A A G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr17:27014227A>G uc002hby.2 + 22 2912 c.2822A>G c.(2821-2823)AAG>AGG p.K941R SUPT6H_uc010crt.2_Missense_Mutation_p.K941R|SUPT6H_uc002hbz.1_5'Flank NM_003170 NP_003161 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog 941 chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity ovary(2)|skin(1) 3 Lung NSC(42;0.00431) CTGTGTCTCAAGTTTCACCCC 0.562000 PHF12 57649 broad.mit.edu 37 17 27240011 27240011 + Silent SNP C C T rs147697011 byFrequency TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr17:27240011C>T uc002hdg.1 - 9 2108 c.1578G>A c.(1576-1578)GCG>GCA p.A526A PHF12_uc010wbb.1_Silent_p.A508A|PHF12_uc002hdi.1_Silent_p.A522A|PHF12_uc002hdj.1_Silent_p.A526A|PHF12_uc010crw.1_Silent_p.A229A|PHF12_uc002hdh.1_Silent_p.A309A NM_001033561 NP_001028733 Q96QT6 PHF12_HUMAN PHD finger protein 12 isoform 1 526 Interaction with SIN3A. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex protein binding|zinc ion binding ovary(1) 1 all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01) Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05) TGGATTTTTCCGCACAAGAAC 0.562000 SSH2 85464 broad.mit.edu 37 17 27963194 27963194 + Missense_Mutation SNP T T G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr17:27963194T>G uc002heo.1 - 14 1973 c.1973A>C c.(1972-1974)AAG>ACG p.K658T SSH2_uc010wbh.1_Missense_Mutation_p.K685T NM_033389 NP_203747 Q76I76 SSH2_HUMAN slingshot 2 658 actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity skin(2) 2 CTCCACAAACTTCTCTAGGGC 0.498000 KIF2B 84643 broad.mit.edu 37 17 51900831 51900831 + Missense_Mutation SNP A A T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr17:51900831A>T uc002iua.2 + 1 593 c.437A>T c.(436-438)AAG>ATG p.K146M uc010wna.1_RNA NM_032559 NP_115948 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 146 blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity ovary(5)|skin(3) 8 AAGCAGAAAAAGTCTCCCTGC 0.562000 CSH1 1442 broad.mit.edu 37 17 61972437 61972437 + Missense_Mutation SNP T T C TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr17:61972437T>C uc002jcs.1 - 5 715 c.599A>G c.(598-600)GAG>GGG p.E200G CSH2_uc002jck.2_Intron|CSH1_uc002jcp.1_3'UTR|CSH1_uc002jcq.1_Missense_Mutation_p.E161G|CSH1_uc002jcr.1_3'UTR|CSH1_uc002jct.1_Missense_Mutation_p.E166G|CSH1_uc002jcu.1_3'UTR|CSH1_uc002jcv.1_Missense_Mutation_p.E105G|CSH1_uc002jcw.2_3'UTR NM_001317 NP_001308 P01243 CSH_HUMAN chorionic somatomammotropin hormone 1 isoform 1 200 Zinc. female pregnancy|signal transduction extracellular region hormone activity|metal ion binding skin(1) 1 CAGGAATGTCTCGACCTTGTC 0.577000 Russell-Silver_syndrome HELZ 9931 broad.mit.edu 37 17 65157118 65157118 + Missense_Mutation SNP A A G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr17:65157118A>G uc010wqk.1 - 16 2157 c.1970T>C c.(1969-1971)CTT>CCT p.L657P HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Missense_Mutation_p.L657P NM_014877 NP_055692 helicase with zinc finger domain ovary(1)|pancreas(1) 2 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) CTGGATTGCAAGTGGAGTGGT 0.448000 RNF213 57674 broad.mit.edu 37 17 78357495 78357495 + Missense_Mutation SNP C C T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr17:78357495C>T uc002jyh.1 + 34 8531 c.8308C>T c.(8308-8310)CCC>TCC p.P2770S uc002jyi.1_Intron|RNF213_uc010dhx.1_5'Flank NM_020914 NP_065965 Q9HCF4 ALO17_HUMAN ring finger protein 213 Error:Variant_position_missing_in_Q9HCF4_after_alignment ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1) 21 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) TAAAACCCTTCCCACCATGAA 0.433000 LAMA3 3909 broad.mit.edu 37 18 21464785 21464785 + Silent SNP C C T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr18:21464785C>T uc002kuq.2 + 41 5357 c.5271C>T c.(5269-5271)TGC>TGT p.C1757C LAMA3_uc002kur.2_Silent_p.C1757C|LAMA3_uc002kus.3_Silent_p.C148C|LAMA3_uc002kut.3_Silent_p.C148C NM_198129 NP_937762 Q16787 LAMA3_HUMAN laminin alpha 3 subunit isoform 1 1757 Laminin EGF-like 14.|Domain III A. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|skin(2)|central_nervous_system(1) 11 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GGTGCTCCTGCAAAGCTGGGT 0.587000 NWD1 284434 broad.mit.edu 37 19 16860249 16860249 + Missense_Mutation SNP G G A TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr19:16860249G>A uc002neu.3 + 6 1218 c.796G>A c.(796-798)GGT>AGT p.G266S NWD1_uc002net.3_Missense_Mutation_p.G131S|NWD1_uc002nev.3_Missense_Mutation_p.G60S Q149M9 NWD1_HUMAN RecName: Full=NACHT and WD repeat domain-containing protein 1; 266 ATP binding skin(3)|ovary(2)|pancreas(2) 7 GAAGGAGCTGGGTGAGCAGTT 0.617000 ZNF569 148266 broad.mit.edu 37 19 37905139 37905139 + Silent SNP A A G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr19:37905139A>G uc002ogi.2 - 6 979 c.421T>C c.(421-423)TTA>CTA p.L141L ZNF569_uc002ogh.2_5'UTR|ZNF569_uc002ogj.2_Silent_p.L165L NM_152484 NP_689697 Q5MCW4 ZN569_HUMAN zinc finger protein 569 141 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|skin(1) 3 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TTTCCAAATAAGTCATACTCA 0.318000 SPTBN4 57731 broad.mit.edu 37 19 41077980 41077980 + Missense_Mutation SNP G G T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr19:41077980G>T uc002ony.2 + 34 7461 c.7375G>T c.(7375-7377)GAC>TAC p.D2459Y SPTBN4_uc002onz.2_Missense_Mutation_p.D2459Y|SPTBN4_uc010egx.2_Missense_Mutation_p.D1202Y NM_020971 NP_066022 Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 isoform 2459 PH. actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton ovary(3)|central_nervous_system(1)|skin(1) 5 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) CTTCTACAAGGACTCCAAGGG 0.602000 PSG6 5675 broad.mit.edu 37 19 43411761 43411761 + Missense_Mutation SNP T T C rs144117726 byFrequency TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr19:43411761T>C uc002ovj.1 - 4 1004 c.952A>G c.(952-954)ATC>GTC p.I318V PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Missense_Mutation_p.I325V|PSG6_uc002ovi.2_Missense_Mutation_p.I319V|PSG6_uc010xwk.1_Missense_Mutation_p.I158V|PSG11_uc002ovk.1_Intron|PSG6_uc002ove.1_Missense_Mutation_p.I108V|PSG6_uc002ovf.1_Intron|PSG6_uc002ovg.1_Missense_Mutation_p.I318V NM_002782 NP_002773 Q00889 PSG6_HUMAN pregnancy specific beta-1-glycoprotein 6 isoform 318 Ig-like C2-type 2. female pregnancy extracellular region ovary(1)|skin(1) 2 Prostate(69;0.00899) TTACTGCGGATGCCACCATAT 0.507000 PSG4 5672 broad.mit.edu 37 19 43699390 43699390 + Silent SNP A A G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr19:43699390A>G uc002ovy.2 - 4 847 c.745T>C c.(745-747)TTA>CTA p.L249L PSG6_uc010xwk.1_Intron|PSG4_uc002owa.2_RNA|PSG4_uc002owb.2_Silent_p.L156L|PSG4_uc002ovz.2_Intron NM_002780 NP_002771 Q00888 PSG4_HUMAN pregnancy specific beta-1-glycoprotein 4 isoform 249 Ig-like C2-type 2. defense response|female pregnancy extracellular region ovary(1) 1 Prostate(69;0.00682) CTGGGGTTTAAGTTGTTGATT 0.453000 IRGC 56269 broad.mit.edu 37 19 44223718 44223718 + Silent SNP C C T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr19:44223718C>T uc002oxh.2 + 2 1155 c.1008C>T c.(1006-1008)AAC>AAT p.N336N NM_019612 NP_062558 Q6NXR0 IIGP5_HUMAN immunity-related GTPase family, cinema 336 membrane GTP binding|hydrolase activity, acting on acid anhydrides ovary(1)|central_nervous_system(1)|skin(1) 3 Prostate(69;0.0435) CACTGGCCAACGAGGTCTCGC 0.662000 PRKD2 25865 broad.mit.edu 37 19 47197269 47197269 + Missense_Mutation SNP T T C TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr19:47197269T>C uc002pfh.2 - 11 1781 c.1439A>G c.(1438-1440)GAG>GGG p.E480G PRKD2_uc010ekt.2_5'Flank|PRKD2_uc002pfe.2_5'UTR|PRKD2_uc002pff.2_5'UTR|PRKD2_uc002pfg.2_Missense_Mutation_p.E323G|PRKD2_uc002pfi.2_Missense_Mutation_p.E480G|PRKD2_uc002pfj.2_Missense_Mutation_p.E480G|PRKD2_uc010xye.1_Missense_Mutation_p.E480G|PRKD2_uc002pfk.2_Missense_Mutation_p.E323G NM_001079881 NP_001073350 Q9BZL6 KPCD2_HUMAN protein kinase D2 isoform A 480 PH. cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway cytoplasm|membrane|nucleus ATP binding|metal ion binding|protein kinase C activity ovary(2)|central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1) 7 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353) GCCAGGCATCTCGCCCACGAA 0.672000 PRKD2 25865 broad.mit.edu 37 19 47207786 47207786 + Missense_Mutation SNP G G T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr19:47207786G>T uc002pfh.2 - 5 974 c.632C>A c.(631-633)ACC>AAC p.T211N PRKD2_uc002pfg.2_Missense_Mutation_p.T54N|PRKD2_uc002pfi.2_Missense_Mutation_p.T211N|PRKD2_uc002pfj.2_Missense_Mutation_p.T211N|PRKD2_uc010xye.1_Missense_Mutation_p.T211N|PRKD2_uc002pfk.2_Missense_Mutation_p.T54N NM_001079881 NP_001073350 Q9BZL6 KPCD2_HUMAN protein kinase D2 isoform A 211 cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway cytoplasm|membrane|nucleus ATP binding|metal ion binding|protein kinase C activity ovary(2)|central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1) 7 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353) GGACTCGGAGGTGCCGAGGCG 0.662000 OREG0025578 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) PPFIA3 8541 broad.mit.edu 37 19 49652922 49652922 + Missense_Mutation SNP C C T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr19:49652922C>T uc002pmr.2 + 28 3805 c.3473C>T c.(3472-3474)GCA>GTA p.A1158V PPFIA3_uc010yai.1_RNA|PPFIA3_uc002pms.2_Missense_Mutation_p.A1017V|PPFIA3_uc002pmt.2_Missense_Mutation_p.A297V|PPFIA3_uc002pmu.1_Missense_Mutation_p.A207V NM_003660 NP_003651 O75145 LIPA3_HUMAN PTPRF interacting protein alpha 3 1158 cell surface|cytoplasm protein binding lung(1) 1 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677) CGTTCGGCTGCAGCGGGAGCC 0.657000 LILRB1 10859 broad.mit.edu 37 19 55144500 55144500 + Missense_Mutation SNP A A T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr19:55144500A>T uc002qgj.2 + 8 1332 c.992A>T c.(991-993)CAG>CTG p.Q331L LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.2_Missense_Mutation_p.Q331L|LILRB1_uc002qgk.2_Missense_Mutation_p.Q331L|LILRB1_uc002qgm.2_Missense_Mutation_p.Q331L|LILRB1_uc010erq.2_Missense_Mutation_p.Q331L|LILRB1_uc010err.2_RNA NM_006669 NP_006660 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, 331 Ig-like C2-type 4.|Extracellular (Potential). regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity large_intestine(1)|ovary(1)|skin(1) 3 GBM - Glioblastoma multiforme(193;0.0188) CTCTCGGTGCAGCCGGGCCCC 0.607000 HNSCC(37;0.09) TNNI3 7137 broad.mit.edu 37 19 55665449 55665449 + Silent SNP G G A TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr19:55665449G>A uc002qjg.3 - 7 498 c.498C>T c.(496-498)TCC>TCT p.S166S TNNI3_uc010yft.1_Silent_p.S158S NM_000363 NP_000354 P19429 TNNI3_HUMAN troponin I, cardiac 166 S -> F (in CMH7). cardiac muscle contraction|cellular calcium ion homeostasis|muscle filament sliding|negative regulation of ATPase activity|regulation of systemic arterial blood pressure by ischemic conditions|vasculogenesis|ventricular cardiac muscle tissue morphogenesis cytosol|troponin complex actin binding|calcium channel inhibitor activity|calcium-dependent protein binding|protein domain specific binding|protein kinase binding|troponin C binding|troponin T binding lung(1)|pancreas(1) 2 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0452) GCAGGTCCAGGGACTCCTTAG 0.617000 NLRP4 147945 broad.mit.edu 37 19 56370116 56370116 + Missense_Mutation SNP G G A rs140761924 TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr19:56370116G>A uc002qmd.3 + 3 1779 c.1357G>A c.(1357-1359)GTG>ATG p.V453M NLRP4_uc002qmf.2_Missense_Mutation_p.V378M|NLRP4_uc010etf.2_Missense_Mutation_p.V284M NM_134444 NP_604393 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 453 NACHT. ATP binding ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1) 15 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) GTTCCTCCACGTGTGTATCCA 0.537000 NLRP8 126205 broad.mit.edu 37 19 56467184 56467184 + Missense_Mutation SNP T T C TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr19:56467184T>C uc002qmh.2 + 3 1831 c.1760T>C c.(1759-1761)CTG>CCG p.L587P NLRP8_uc010etg.2_Missense_Mutation_p.L587P NM_176811 NP_789781 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 587 cytoplasm ATP binding ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1) 13 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) AAGAGGAAACTGCTGAAAGTC 0.502000 NLRP8 126205 broad.mit.edu 37 19 56467229 56467229 + Missense_Mutation SNP C C T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr19:56467229C>T uc002qmh.2 + 3 1876 c.1805C>T c.(1804-1806)CCG>CTG p.P602L NLRP8_uc010etg.2_Missense_Mutation_p.P602L NM_176811 NP_789781 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 602 cytoplasm ATP binding ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1) 13 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) CCACCTTCTCCGGGCAGTGGG 0.468000 ZNF135 7694 broad.mit.edu 37 19 58578360 58578360 + Missense_Mutation SNP A A C TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr19:58578360A>C uc010yhq.1 + 5 640 c.544A>C c.(544-546)AGT>CGT p.S182R ZNF135_uc002qre.2_Missense_Mutation_p.S170R|ZNF135_uc002qrd.1_Missense_Mutation_p.S128R|ZNF135_uc002qrf.2_Missense_Mutation_p.S128R|ZNF135_uc002qrg.2_Missense_Mutation_p.S140R|ZNF135_uc010yhr.1_5'UTR NM_003436 NP_003427 B4DHH9 B4DHH9_HUMAN zinc finger protein 135 isoform 2 182 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161) GGAAAACATAAGTCTGAACCC 0.527000 ZNF274 10782 broad.mit.edu 37 19 58724210 58724210 + Missense_Mutation SNP A A G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr19:58724210A>G uc002qrq.1 + 10 2122 c.1663A>G c.(1663-1665)AGA>GGA p.R555G ZNF274_uc002qrr.1_Missense_Mutation_p.R523G|ZNF274_uc002qrs.1_Missense_Mutation_p.R450G|ZNF274_uc010eum.1_Missense_Mutation_p.R314G NM_133502 NP_598009 Q96GC6 ZN274_HUMAN zinc finger protein 274 isoform c 555 C2H2-type 2. 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) ACAGCATCAGAGAGTTCATTC 0.502000 MSGN1 343930 broad.mit.edu 37 2 17998186 17998186 + Missense_Mutation SNP A A T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr2:17998186A>T uc010yjt.1 + 1 401 c.401A>T c.(400-402)AAG>ATG p.K134M NM_001105569 NP_001099039 A6NI15 MSGN1_HUMAN mesogenin 1 134 Basic motif. cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) GAGAGGGAGAAGCTCAGGATG 0.622000 DNMT3A 1788 broad.mit.edu 37 2 25497834 25497834 + Silent SNP C C T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr2:25497834C>T uc002rgc.2 - 6 872 c.615G>A c.(613-615)GAG>GAA p.E205E DNMT3A_uc002rgd.2_Silent_p.E205E|DNMT3A_uc010eyi.2_RNA NM_022552 NP_072046 Q9Y6K1 DNM3A_HUMAN DNA cytosine methyltransferase 3 alpha isoform 205 Interaction with DNMT1 and DNMT3B. regulation of gene expression by genetic imprinting cytoplasm|euchromatin|nuclear matrix DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding haematopoietic_and_lymphoid_tissue(133)|lung(4)|ovary(3) 140 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GTGCCAGCCACTCGTCCCGCT 0.657000 Mis|F|N|S AML IMMT 10989 broad.mit.edu 37 2 86406632 86406632 + Missense_Mutation SNP G G A TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr2:86406632G>A uc002sqz.3 - 3 621 c.233C>T c.(232-234)ACC>ATC p.T78I IMMT_uc002srb.3_Missense_Mutation_p.T78I|IMMT_uc002sra.3_Missense_Mutation_p.T78I|IMMT_uc010ytd.1_Missense_Mutation_p.T78I|IMMT_uc010yte.1_Missense_Mutation_p.T78I|IMMT_uc002srd.2_Missense_Mutation_p.T78I|IMMT_uc002sre.3_Missense_Mutation_p.T78I|IMMT_uc010ytf.1_Missense_Mutation_p.T78I|IMMT_uc010fgs.1_Missense_Mutation_p.T78I NM_006839 NP_006830 Q16891 IMMT_HUMAN inner membrane protein, mitochondrial isoform 1 78 Mitochondrial intermembrane (Potential). integral to mitochondrial inner membrane protein binding skin(1) 1 GTAAGGTATGGTTTTCTCTAC 0.408000 KIF5C 3800 broad.mit.edu 37 2 149803436 149803436 + Missense_Mutation SNP A A C TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr2:149803436A>C uc010zbu.1 + 8 981 c.613A>C c.(613-615)AGT>CGT p.S205R KIF5C_uc002tws.1_5'Flank NM_004522 NP_004513 O60282 KIF5C_HUMAN kinesin family member 5C 205 Kinesin-motor.|Microtubule-binding. microtubule-based movement|organelle organization cytoplasm|kinesin complex|microtubule ATP binding|microtubule motor activity skin(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.108) CAGCTCTAGAAGTCACAGTAT 0.343000 LRP2 4036 broad.mit.edu 37 2 170136035 170136035 + Missense_Mutation SNP T T G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr2:170136035T>G uc002ues.2 - 12 1625 c.1412A>C c.(1411-1413)AAC>ACC p.N471T LRP2_uc010zdf.1_Missense_Mutation_p.N471T NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 471 LDL-receptor class B 1.|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) CACAGCCAGGTTCTCTGGGGT 0.358000 OSBPL6 114880 broad.mit.edu 37 2 179197734 179197734 + Missense_Mutation SNP C C T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr2:179197734C>T uc002ulx.2 + 8 1001 c.623C>T c.(622-624)TCA>TTA p.S208L OSBPL6_uc002ulw.2_Missense_Mutation_p.S208L|OSBPL6_uc002uly.2_Missense_Mutation_p.S208L|OSBPL6_uc010zfe.1_Missense_Mutation_p.S208L|OSBPL6_uc002ulz.2_Missense_Mutation_p.S208L|OSBPL6_uc002uma.2_Missense_Mutation_p.S187L NM_032523 NP_115912 Q9BZF3 OSBL6_HUMAN oxysterol-binding protein-like protein 6 isoform 208 lipid transport lipid binding pancreas(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335) GCTGAATCCTCACCAGCTGCT 0.358000 TTN 7273 broad.mit.edu 37 2 179472303 179472303 + Missense_Mutation SNP T T G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr2:179472303T>G uc010zfg.1 - 226 45632 c.45408A>C c.(45406-45408)AAA>AAC p.K15136N uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.K8831N|TTN_uc010zfi.1_Missense_Mutation_p.K8764N|TTN_uc010zfj.1_Missense_Mutation_p.K8639N NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 16063 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGGTCCATACTTTTGTAGGTA 0.443000 NUP35 129401 broad.mit.edu 37 2 184025818 184025818 + Missense_Mutation SNP A A C TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr2:184025818A>C uc002upf.2 + 9 1043 c.940A>C c.(940-942)AGT>CGT p.S314R NUP35_uc010zfs.1_Missense_Mutation_p.S296R|NUP35_uc010zft.1_Missense_Mutation_p.S196R|NUP35_uc002upg.2_RNA NM_138285 NP_612142 Q8NFH5 NUP53_HUMAN nucleoporin 35kDa 314 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction intermediate filament cytoskeleton|nuclear membrane|nuclear pore|plasma membrane 0 AAAAGATGAAAGTCTTGTATC 0.383000 COL3A1 1281 broad.mit.edu 37 2 189860863 189860863 + Missense_Mutation SNP A A G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr2:189860863A>G uc002uqj.1 + 23 1738 c.1621A>G c.(1621-1623)AGT>GGT p.S541G NM_000090 NP_000081 P02461 CO3A1_HUMAN collagen type III alpha 1 preproprotein 541 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding central_nervous_system(7)|ovary(4)|large_intestine(2) 13 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) CATGCCCGGAAGTCCAGGAGG 0.348000 DNAH7 56171 broad.mit.edu 37 2 196834765 196834765 + Missense_Mutation SNP T T G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr2:196834765T>G uc002utj.3 - 17 2213 c.2112A>C c.(2110-2112)GAA>GAC p.E704D NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 704 Stem (By similarity).|Potential. ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 AATAAAATTCTTCTGATTGCT 0.338000 SCG2 7857 broad.mit.edu 37 2 224462479 224462479 + Missense_Mutation SNP A A C TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr2:224462479A>C uc002vnm.2 - 2 1655 c.1522T>G c.(1522-1524)TTG>GTG p.L508V NM_003469 NP_003460 P13521 SCG2_HUMAN secretogranin II precursor 508 angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion extracellular space|stored secretory granule chemoattractant activity|cytokine activity ovary(1) 1 Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271) Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008) ATCCTGGCCAAGTACTCACCT 0.448000 ANGPT4 51378 broad.mit.edu 37 20 853672 853672 + Nonsense_Mutation SNP C C T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr20:853672C>T uc002wei.2 - 9 1546 c.1443G>A c.(1441-1443)TGG>TGA p.W481* ANGPT4_uc010zpn.1_3'UTR NM_015985 NP_057069 Q9Y264 ANGP4_HUMAN angiopoietin 4 precursor 481 Fibrinogen C-terminal. anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction extracellular space receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity ovary(2) 2 TGAAGTAGTGCCAGCGGATGC 0.577000 RSPO4 343637 broad.mit.edu 37 20 948593 948593 + Missense_Mutation SNP T T G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr20:948593T>G uc002wej.2 - 2 365 c.268A>C c.(268-270)AAA>CAA p.K90Q RSPO4_uc002wek.2_Missense_Mutation_p.K90Q NM_001029871 NP_001025042 Q2I0M5 RSPO4_HUMAN R-spondin family, member 4 isoform 1 precursor 90 FU. Wnt receptor signaling pathway extracellular region heparin binding 0 AGCCACGTACTTTTGCACCTG 0.597000 CSRP2BP 57325 broad.mit.edu 37 20 18142527 18142527 + Missense_Mutation SNP G G A rs150894437 TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr20:18142527G>A uc002wqj.2 + 6 1368 c.746G>A c.(745-747)CGG>CAG p.R249Q CSRP2BP_uc002wqk.2_Missense_Mutation_p.R121Q|CSRP2BP_uc010zru.1_Missense_Mutation_p.R120Q NM_020536 NP_065397 Q9H8E8 CSR2B_HUMAN CSRP2 binding protein 249 histone H3 acetylation Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm LIM domain binding|N-acetyltransferase activity lung(3)|ovary(2)|skin(1) 6 CGAGCAAGTCGGAATCCTGTG 0.383000 RPN2 6185 broad.mit.edu 37 20 35858392 35858392 + Missense_Mutation SNP A A G rs139589912 TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr20:35858392A>G uc002xgp.2 + 13 1815 c.1511A>G c.(1510-1512)AAG>AGG p.K504R RPN2_uc002xgq.2_Missense_Mutation_p.K472R NM_002951 NP_002942 P04844 RPN2_HUMAN ribophorin II isoform 1 precursor 504 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|nucleus|oligosaccharyltransferase complex dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding ovary(2)|skin(1) 3 Myeloproliferative disorder(115;0.00878) GTGGTCATCAAGTTCCCTGAG 0.443000 PIGT 51604 broad.mit.edu 37 20 44045194 44045194 + Silent SNP G G A TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr20:44045194G>A uc002xoh.1 + 2 298 c.225G>A c.(223-225)CAG>CAA p.Q75Q PIGT_uc010ghb.1_Silent_p.Q75Q|PIGT_uc010zwt.1_RNA|PIGT_uc010ghd.1_Intron|PIGT_uc010ghc.1_RNA|PIGT_uc010ghe.1_Silent_p.Q75Q|PIGT_uc010ghf.1_Silent_p.Q75Q|PIGT_uc002xoj.1_Silent_p.Q75Q|PIGT_uc002xok.1_Silent_p.Q75Q|PIGT_uc010zwu.1_5'UTR|PIGT_uc002xoi.1_RNA|PIGT_uc010zwv.1_Intron|PIGT_uc010zww.1_Silent_p.Q75Q|PIGT_uc010zwx.1_5'UTR|PIGT_uc010zwy.1_Intron|PIGT_uc010zwz.1_Intron|PIGT_uc010zxa.1_5'UTR|PIGT_uc002xol.1_5'Flank NM_015937 NP_057021 Q969N2 PIGT_HUMAN phosphatidylinositol glycan anchor biosynthesis, 75 Lumenal (Potential). attachment of GPI anchor to protein|C-terminal protein lipidation GPI-anchor transamidase complex protein binding pancreas(1) 1 Myeloproliferative disorder(115;0.0122) CCCTGGGGCAGCTGATCTCCA 0.602000 NTSR1 4923 broad.mit.edu 37 20 61391604 61391604 + Silent SNP C C A rs73918683 TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr20:61391604C>A uc002ydf.2 + 4 1613 c.1242C>A c.(1240-1242)CGC>CGA p.R414R NM_002531 NP_002522 P30989 NTR1_HUMAN neurotensin receptor 1 414 Cytoplasmic (Potential). endoplasmic reticulum|Golgi apparatus|integral to plasma membrane neurotensin receptor activity, G-protein coupled skin(2)|lung(1)|central_nervous_system(1) 4 Breast(26;3.65e-08) BRCA - Breast invasive adenocarcinoma(19;3.63e-06) ATGCCACCCGCGAGACGCTGT 0.687000 MYT1 4661 broad.mit.edu 37 20 62839769 62839769 + Missense_Mutation SNP A A G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr20:62839769A>G uc002yii.2 + 7 1584 c.1220A>G c.(1219-1221)CAG>CGG p.Q407R MYT1_uc002yih.2_Intron|MYT1_uc002yij.2_Missense_Mutation_p.Q39R NM_004535 NP_004526 Q01538 MYT1_HUMAN myelin transcription factor 1 407 cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) GAGCAGAGCCAGCTGGGCCTG 0.667000 RNF160 26046 broad.mit.edu 37 21 30316135 30316135 + Silent SNP T T G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr21:30316135T>G uc002ymr.2 - 23 4225 c.4212A>C c.(4210-4212)CTA>CTC p.L1404L NM_015565 NP_056380 O94822 LTN1_HUMAN zinc finger protein 294 1358 ligase activity|zinc ion binding 0 TGTGACTCAATAGCTGTTCCT 0.373000 ITSN1 6453 broad.mit.edu 37 21 35190767 35190767 + Missense_Mutation SNP A A G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr21:35190767A>G uc002yta.1 + 23 3192 c.2924A>G c.(2923-2925)AAG>AGG p.K975R DONSON_uc002ysn.1_Intron|ITSN1_uc002yth.3_RNA|ITSN1_uc002ysz.2_Missense_Mutation_p.K970R|ITSN1_uc010gmg.2_Missense_Mutation_p.K933R|ITSN1_uc010gmh.2_Intron|ITSN1_uc002ysw.2_Missense_Mutation_p.K975R|ITSN1_uc010gmi.2_Missense_Mutation_p.K938R|ITSN1_uc010gmj.2_Missense_Mutation_p.K854R|ITSN1_uc002ysy.2_Missense_Mutation_p.K970R|ITSN1_uc002ysx.2_Missense_Mutation_p.K933R|ITSN1_uc002ytb.1_Missense_Mutation_p.K970R|ITSN1_uc002ytd.2_RNA|ITSN1_uc010gmk.2_Missense_Mutation_p.K938R|ITSN1_uc010gml.2_Intron|ITSN1_uc002ytj.2_Missense_Mutation_p.K970R|ITSN1_uc010gmm.1_RNA|ITSN1_uc002yte.2_Missense_Mutation_p.K909R|ITSN1_uc002ytg.1_Missense_Mutation_p.K28R NM_003024 NP_003015 Q15811 ITSN1_HUMAN intersectin 1 isoform ITSN-l 975 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity ovary(3)|skin(1) 4 CCCATAAGGAAGTCTACAAGG 0.398000 DOPEY2 9980 broad.mit.edu 37 21 37650614 37650614 + Missense_Mutation SNP T T C TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr21:37650614T>C uc002yvg.2 + 30 6009 c.5930T>C c.(5929-5931)CTC>CCC p.L1977P DOPEY2_uc011aeb.1_Missense_Mutation_p.L1926P NM_005128 NP_005119 Q9Y3R5 DOP2_HUMAN pad-1-like 1977 endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport Golgi membrane ovary(1)|central_nervous_system(1) 2 GAGCTGTTTCTCGACCCCGCT 0.527000 GNAZ 2781 broad.mit.edu 37 22 23465312 23465312 + Missense_Mutation SNP C C G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr22:23465312C>G uc002zwu.1 + 3 1299 c.762C>G c.(760-762)ATC>ATG p.I254M RTDR1_uc002zwt.2_Intron NM_002073 NP_002064 P19086 GNAZ_HUMAN guanine nucleotide binding protein, alpha z 254 endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity kidney(1)|skin(1) 2 all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181) READ - Rectum adenocarcinoma(21;0.166) TTGACTCCATCTGCAACAACA 0.552000 GNAZ 2781 broad.mit.edu 37 22 23465478 23465478 + Missense_Mutation SNP G G A TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr22:23465478G>A uc002zwu.1 + 3 1465 c.928G>A c.(928-930)GAC>AAC p.D310N RTDR1_uc002zwt.2_Intron NM_002073 NP_002064 P19086 GNAZ_HUMAN guanine nucleotide binding protein, alpha z 310 endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity kidney(1)|skin(1) 2 all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181) READ - Rectum adenocarcinoma(21;0.166) GCAGTTTGAAGACCTGAACCG 0.567000 TFIP11 24144 broad.mit.edu 37 22 26895380 26895380 + Missense_Mutation SNP C C T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr22:26895380C>T uc003acr.2 - 8 1393 c.1019G>A c.(1018-1020)CGG>CAG p.R340Q TFIP11_uc003acs.2_Missense_Mutation_p.R340Q|TFIP11_uc003act.2_Missense_Mutation_p.R340Q NM_012143 NP_036275 Q9UBB9 TFP11_HUMAN tuftelin interacting protein 11 340 biomineral tissue development catalytic step 2 spliceosome|cytoplasm|nuclear speck DNA binding|sequence-specific DNA binding transcription factor activity 0 CTGTAGCTGCCGGTCATTCTG 0.617000 NF2 4771 broad.mit.edu 37 22 30074212 30074212 + Missense_Mutation SNP C C T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr22:30074212C>T uc003age.3 + 14 1917 c.1474C>T c.(1474-1476)CCT>TCT p.P492S NF2_uc003afy.3_Missense_Mutation_p.P492S|NF2_uc003afz.3_Missense_Mutation_p.P409S|NF2_uc003agf.3_Missense_Mutation_p.P492S|NF2_uc003agb.3_Missense_Mutation_p.P415S|NF2_uc003agc.3_Missense_Mutation_p.P454S|NF2_uc003agd.3_RNA|NF2_uc003agg.3_Missense_Mutation_p.P492S|NF2_uc003aga.3_Missense_Mutation_p.P450S|NF2_uc003agh.3_Missense_Mutation_p.P451S|NF2_uc003agi.3_Missense_Mutation_p.P409S|NF2_uc003agj.3_Intron|NF2_uc003agk.3_Missense_Mutation_p.P454S|NF2_uc010gvp.2_Missense_Mutation_p.P156S|NF2_uc011akq.1_Missense_Mutation_p.P118S NM_000268 NP_000259 P35240 MERL_HUMAN neurofibromin 2 isoform 1 492 actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane cytoskeletal protein binding|protein binding p.P492fs*1(2)|p.P483fs*17(1)|p.?(1) meninges(372)|soft_tissue(284)|central_nervous_system(20)|kidney(10)|pleura(9)|skin(7)|large_intestine(5)|breast(5)|urinary_tract(3)|thyroid(2)|endometrium(2)|ovary(2)|lung(2)|stomach(2)|bone(2)|pituitary(1) 728 AGCACCGTTGCCTCCTGACAT 0.458000 D|Mis|N|F|S|O meningioma|acoustic neuroma|renal meningioma|acoustic neuroma Neurofibromatosis_type_2 CELSR1 9620 broad.mit.edu 37 22 46804928 46804928 + Missense_Mutation SNP C C T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr22:46804928C>T uc003bhw.1 - 9 5191 c.5191G>A c.(5191-5193)GCC>ACC p.A1731T CELSR1_uc011arc.1_Missense_Mutation_p.A44T NM_014246 NP_055061 Q9NYQ6 CELR1_HUMAN cadherin EGF LAG seven-pass G-type receptor 1 1731 Extracellular (Potential).|Laminin G-like 2. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity lung(4)|breast(4)|pancreas(2)|skin(1) 11 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) CCACTGGTGGCCTCCATCAGA 0.657000 BSN 8927 broad.mit.edu 37 3 49680049 49680049 + Missense_Mutation SNP A A C TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr3:49680049A>C uc003cxe.3 + 3 1096 c.982A>C c.(982-984)AGT>CGT p.S328R NM_003458 NP_003449 Q9UPA5 BSN_HUMAN bassoon protein 328 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1) 8 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) CCCGGCCAAAAGTGCCACCGC 0.672000 KIAA1407 57577 broad.mit.edu 37 3 113753894 113753894 + Missense_Mutation SNP T T G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr3:113753894T>G uc003eax.2 - 6 843 c.696A>C c.(694-696)CAA>CAC p.Q232H KIAA1407_uc011bin.1_RNA|KIAA1407_uc011bio.1_Missense_Mutation_p.Q210H|KIAA1407_uc011bip.1_Missense_Mutation_p.Q219H NM_020817 NP_065868 Q8NCU4 K1407_HUMAN hypothetical protein LOC57577 232 Potential. ovary(2) 2 TCTTCTCTTCTTGCACCAGAC 0.463000 RHO 6010 broad.mit.edu 37 3 129251538 129251538 + Missense_Mutation SNP T T G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr3:129251538T>G uc003emt.2 + 4 954 c.859T>G c.(859-861)TTC>GTC p.F287V NM_000539 NP_000530 P08100 OPSD_HUMAN rhodopsin 287 Helical; Name=7; (Potential). protein-chromophore linkage|rhodopsin mediated signaling pathway Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding 0 all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183) GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234) Halothane(DB01159) CGGTCCCATCTTCATGACCAT 0.557000 EVC2 132884 broad.mit.edu 37 4 5586387 5586387 + Missense_Mutation SNP T T C TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr4:5586387T>C uc003gij.2 - 17 3074 c.3020A>G c.(3019-3021)AAG>AGG p.K1007R EVC2_uc011bwb.1_Missense_Mutation_p.K447R|EVC2_uc003gik.2_Missense_Mutation_p.K927R NM_147127 NP_667338 Q86UK5 LBN_HUMAN limbin 1007 Potential. integral to membrane large_intestine(3)|ovary(2) 5 GCAGGCCGACTTGGTCAGCAT 0.597000 SLIT2 9353 broad.mit.edu 37 4 20591350 20591350 + Missense_Mutation SNP A A G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr4:20591350A>G uc003gpr.1 + 30 3376 c.3172A>G c.(3172-3174)AAG>GAG p.K1058E SLIT2_uc003gps.1_Missense_Mutation_p.K1050E NM_004787 NP_004778 O94813 SLIT2_HUMAN slit homolog 2 precursor 1058 EGF-like 4. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding central_nervous_system(4)|skin(4)|ovary(3) 11 CCTAACTCCAAAGGGATTCAA 0.498000 TBC1D1 23216 broad.mit.edu 37 4 38046040 38046040 + Missense_Mutation SNP T T G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr4:38046040T>G uc003gtb.2 + 9 1814 c.1471T>G c.(1471-1473)TTT>GTT p.F491V TBC1D1_uc011byd.1_Missense_Mutation_p.F491V|TBC1D1_uc010ifd.2_Missense_Mutation_p.F238V|TBC1D1_uc011byf.1_Missense_Mutation_p.F362V NM_015173 NP_055988 Q86TI0 TBCD1_HUMAN TBC1 (tre-2/USP6, BUB2, cdc16) domain family, 491 nucleus Rab GTPase activator activity ovary(1) 1 TGCCACTCGATTTAGGCTAGA 0.383000 RBM47 54502 broad.mit.edu 37 4 40440178 40440178 + Missense_Mutation SNP C C T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr4:40440178C>T uc003gvc.2 - 4 1443 c.733G>A c.(733-735)GTG>ATG p.V245M RBM47_uc003gvd.2_Missense_Mutation_p.V245M|RBM47_uc003gve.2_RNA|RBM47_uc011bys.1_Missense_Mutation_p.V207M|RBM47_uc003gvg.1_Missense_Mutation_p.V245M NM_001098634 NP_001092104 A0AV96 RBM47_HUMAN RNA binding motif protein 47 isoform a 245 nucleus nucleotide binding|RNA binding breast(3) 3 AGGATCTTCACGGTCTCCATC 0.622000 ATP10D 57205 broad.mit.edu 37 4 47582421 47582421 + Silent SNP T T C TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr4:47582421T>C uc003gxk.1 + 20 3738 c.3574T>C c.(3574-3576)TTA>CTA p.L1192L ATP10D_uc003gxl.1_Silent_p.L440L NM_020453 NP_065186 Q9P241 AT10D_HUMAN ATPase, class V, type 10D 1192 Cytoplasmic (Potential). ATP biosynthetic process|cation transport integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(2)|pancreas(1) 3 CTAGGCATACTTACCCCATAC 0.393000 KIT 3815 broad.mit.edu 37 4 55561768 55561768 + Missense_Mutation SNP A A G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr4:55561768A>G uc010igr.2 + 2 245 c.158A>G c.(157-159)GAG>GGG p.E53G KIT_uc010igs.2_Missense_Mutation_p.E53G NM_000222 NP_000213 P10721 KIT_HUMAN v-kit Hardy-Zuckerman 4 feline sarcoma viral 53 Extracellular (Potential).|Ig-like C2-type 1. male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway extracellular space|integral to membrane ATP binding|protein binding|receptor signaling protein tyrosine kinase activity p.E53K(2) soft_tissue(3273)|haematopoietic_and_lymphoid_tissue(1572)|skin(99)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(11)|thymus(6)|lung(6)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1) 5118 all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209) Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171) Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) GTGGGCGACGAGATTAGGCTG 0.478000 1 Mis|O GIST|AML|TGCT|mastocytosis|mucosal melanoma GIST|epithelioma Piebald trait Mast_Cell_disease_Familial_Clustering_of|Piebaldism|Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Gastrointestinal_Stromal_Tumors STAP1 26228 broad.mit.edu 37 4 68447130 68447130 + Silent SNP C C T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr4:68447130C>T uc003hde.3 + 5 553 c.471C>T c.(469-471)TCC>TCT p.S157S STAP1_uc003hdf.2_Silent_p.S157S NM_012108 NP_036240 Q9ULZ2 STAP1_HUMAN signal transducing adaptor family member 1 157 cellular membrane fusion|intracellular protein transport cytoplasm 0 AGAGTACGTCCGTGGAAAAAG 0.428000 THAP9 79725 broad.mit.edu 37 4 83838294 83838294 + Missense_Mutation SNP T T G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr4:83838294T>G uc003hnt.2 + 5 1048 c.929T>G c.(928-930)CTT>CGT p.L310R THAP9_uc003hns.1_Missense_Mutation_p.L166R|THAP9_uc003hnu.1_RNA|THAP9_uc003hnv.2_Missense_Mutation_p.L27R NM_024672 NP_078948 Q9H5L6 THAP9_HUMAN THAP domain containing 9 310 DNA binding|metal ion binding ovary(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 5 Hepatocellular(203;0.114) CTTGGAAAACTTGATGCTGAT 0.403000 TACR3 6870 broad.mit.edu 37 4 104577395 104577395 + Missense_Mutation SNP C C T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr4:104577395C>T uc003hxe.1 - 3 987 c.844G>A c.(844-846)GAT>AAT p.D282N NM_001059 NP_001050 P29371 NK3R_HUMAN tachykinin receptor 3 282 Cytoplasmic (Potential). integral to plasma membrane tachykinin receptor activity ovary(3)|lung(2)|breast(1)|skin(1) 7 Hepatocellular(203;0.217) UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08) TCACAGGTATCTCCTGGGATT 0.398000 COL25A1 84570 broad.mit.edu 37 4 110223041 110223041 + Silent SNP G G A TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr4:110223041G>A uc003hze.1 - 2 666 c.135C>T c.(133-135)GCC>GCT p.A45A COL25A1_uc003hzg.2_Silent_p.A45A|COL25A1_uc003hzh.1_Silent_p.A45A NM_198721 NP_942014 Q9BXS0 COPA1_HUMAN collagen, type XXV, alpha 1 isoform 1 45 Helical; Signal-anchor for type II membrane protein; (Potential). collagen|extracellular space beta-amyloid binding|heparin binding ovary(2) 2 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000173) AAGACACCACGGCCACCACTG 0.662000 DDX60 55601 broad.mit.edu 37 4 169138150 169138150 + Silent SNP G G A TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr4:169138150G>A uc003irp.2 - 38 5365 c.5073C>T c.(5071-5073)GAC>GAT p.D1691D DDX60_uc003iro.2_3'UTR NM_017631 NP_060101 Q8IY21 DDX60_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 1691 ATP binding|ATP-dependent helicase activity|RNA binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0485) CAACGTTGTCGTCTTCATTTT 0.333000 FAT1 2195 broad.mit.edu 37 4 187554958 187554958 + Silent SNP G G A TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr4:187554958G>A uc003izf.2 - 7 4391 c.4203C>T c.(4201-4203)CAC>CAT p.H1401H NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 1401 Extracellular (Potential).|Cadherin 12. 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 CCACATCGAAGTGACTGTCGT 0.423000 HNSCC(5;0.00058) TRIML2 205860 broad.mit.edu 37 4 189012817 189012817 + Missense_Mutation SNP T T C TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr4:189012817T>C uc003izl.2 - 7 910 c.874A>G c.(874-876)ACG>GCG p.T292A TRIML2_uc003izj.1_Missense_Mutation_p.T120A|TRIML2_uc003izk.1_Missense_Mutation_p.T100A|TRIML2_uc011cle.1_Missense_Mutation_p.T367A NM_173553 NP_775824 Q8N7C3 TRIMM_HUMAN tripartite motif family-like 2 292 B30.2/SPRY. ligase activity central_nervous_system(2) 2 all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513) OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163) ACCGACCCCGTGAGCAAGACT 0.577000 ZDHHC11 79844 broad.mit.edu 37 5 840653 840653 + Silent SNP G G A TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr5:840653G>A uc011cma.1 - 5 1125 c.741C>T c.(739-741)GGC>GGT p.G247G ZDHHC11_uc003jbj.2_RNA|ZDHHC11_uc010itd.1_RNA|ZDHHC11_uc003jbk.2_Silent_p.G34G NM_024786 NP_079062 Q9H8X9 ZDH11_HUMAN zinc finger, DHHC-type containing 11 247 Helical; (Potential). integral to membrane acyltransferase activity|zinc ion binding skin(1)|pancreas(1) 2 Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863) GGTGCACCAAGCCAAGAAAGT 0.607000 IRX4 50805 broad.mit.edu 37 5 1879701 1879701 + Missense_Mutation SNP T T G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr5:1879701T>G uc003jcz.2 - 4 772 c.653A>C c.(652-654)AAG>ACG p.K218T IRX4_uc011cmf.1_Missense_Mutation_p.K79T NM_016358 NP_057442 P78413 IRX4_HUMAN iroquois homeobox 4 218 heart development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 GBM - Glioblastoma multiforme(108;0.242) GTAGGGCCGCTTCTCGTCTGC 0.493000 ANKH 56172 broad.mit.edu 37 5 14713673 14713673 + Silent SNP G G A TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr5:14713673G>A uc003jfm.3 - 10 1576 c.1245C>T c.(1243-1245)CTC>CTT p.L415L ANKH_uc003jfl.3_Silent_p.L128L NM_054027 NP_473368 Q9HCJ1 ANKH_HUMAN progressive ankylosis protein 415 Helical; (Potential). locomotory behavior|regulation of bone mineralization|skeletal system development integral to plasma membrane|outer membrane inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity upper_aerodigestive_tract(1) 1 GTAGGACCACGAGGCTGGCGA 0.557000 MRPS36 92259 broad.mit.edu 37 5 68513672 68513672 + Missense_Mutation SNP A A G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr5:68513672A>G uc003jvq.2 + 1 100 c.16A>G c.(16-18)ATG>GTG p.M6V MRPS36_uc003jvr.2_RNA NM_033281 NP_150597 P82909 RT36_HUMAN mitochondrial ribosomal protein S36 6 translation mitochondrial small ribosomal subunit structural constituent of ribosome 0 Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;1.04e-56)|Epithelial(20;8.79e-53)|all cancers(19;2.01e-48)|Lung(70;0.0176) GGGCAGCAAGATGGCGTCTGC 0.647000 AQPEP 206338 broad.mit.edu 37 5 115335576 115335576 + Missense_Mutation SNP T T G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr5:115335576T>G uc003kro.2 + 7 1656 c.1492T>G c.(1492-1494)TTT>GTT p.F498V AQPEP_uc003krp.2_RNA|AQPEP_uc003krq.2_RNA|AQPEP_uc003krr.2_RNA|AQPEP_uc003krs.2_RNA NM_173800 NP_776161 Q6Q4G3 AMPQ_HUMAN laeverin 498 Lumenal (Potential). proteolysis integral to membrane metallopeptidase activity|zinc ion binding 0 ACAGGAACTCTTTGACATATT 0.363000 DMXL1 1657 broad.mit.edu 37 5 118484481 118484481 + Missense_Mutation SNP T T G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr5:118484481T>G uc003ksd.2 + 18 3140 c.2959T>G c.(2959-2961)TTA>GTA p.L987V DMXL1_uc010jcl.1_Missense_Mutation_p.L987V NM_005509 NP_005500 Q9Y485 DMXL1_HUMAN Dmx-like 1 987 WD 8. ovary(2) 2 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) TGCTCCTTATTTATTGGCAAC 0.348000 CDC25C 995 broad.mit.edu 37 5 137622934 137622934 + Missense_Mutation SNP T T G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr5:137622934T>G uc003lcp.1 - 11 1221 c.950A>C c.(949-951)AAG>ACG p.K317T CDC25C_uc003lcq.1_Missense_Mutation_p.K244T|CDC25C_uc003lcr.1_Missense_Mutation_p.K317T|CDC25C_uc011cyp.1_Missense_Mutation_p.K334T|CDC25C_uc003lcs.1_Missense_Mutation_p.K395T NM_001790 NP_001781 P30307 MPIP3_HUMAN cell division cycle 25C isoform a 317 cell cycle checkpoint|cell division|cell proliferation|DNA replication|G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle cytosol|nucleoplasm protein tyrosine phosphatase activity|WW domain binding lung(3) 3 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) ACCCTGGAACTTCCCCGACAG 0.473000 PCDHA9 9752 broad.mit.edu 37 5 140228037 140228037 + Translation_Start_Site SNP T T G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr5:140228037T>G uc003lhu.2 + 1 681 c.-43T>G c.(-45--41)ATTTG>ATGTG 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_Translation_Start_Site NM_031857 NP_114063 Q9Y5H5 PCDA9_HUMAN protocadherin alpha 9 isoform 1 precursor 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) TTCTTCTAATTTGGAGGCAAT 0.433000 PCDHA10 56139 broad.mit.edu 37 5 140236750 140236750 + Missense_Mutation SNP G G A TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr5:140236750G>A uc003lhx.2 + 1 1117 c.1117G>A c.(1117-1119)GTT>ATT p.V373I 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_Missense_Mutation_p.V373I|PCDHA10_uc011dad.1_Missense_Mutation_p.V373I NM_018901 NP_061724 Q9Y5I2 PCDAA_HUMAN protocadherin alpha 10 isoform 1 precursor 373 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding ovary(2)|skin(2)|breast(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCTAATCAGCGTTTCTGACCA 0.483000 PCDHB5 26167 broad.mit.edu 37 5 140516360 140516360 + Silent SNP C C T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr5:140516360C>T uc003liq.2 + 1 1561 c.1344C>T c.(1342-1344)CCC>CCT p.P448P NM_015669 NP_056484 Q9Y5E4 PCDB5_HUMAN protocadherin beta 5 precursor 448 Cadherin 4.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding skin(3)|ovary(2) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACAACGCCCCCGCCTTCACCC 0.582000 BTNL8 79908 broad.mit.edu 37 5 180374616 180374616 + Missense_Mutation SNP A A G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr5:180374616A>G uc003mmp.2 + 4 1012 c.778A>G c.(778-780)AAA>GAA p.K260E BTNL8_uc003mmq.2_Missense_Mutation_p.K260E|BTNL8_uc011dhg.1_Missense_Mutation_p.K135E|BTNL8_uc010jll.2_Missense_Mutation_p.K260E|BTNL8_uc010jlm.2_Missense_Mutation_p.K144E|BTNL8_uc011dhh.1_Missense_Mutation_p.K76E NM_001040462 NP_001035552 Q6UX41 BTNL8_HUMAN butyrophilin-like 8 isoform 2 precursor 260 Cytoplasmic (Potential). integral to membrane upper_aerodigestive_tract(1)|skin(1) 2 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TTTCTTCTCCAAATTCCAGTG 0.488000 BTNL8 79908 broad.mit.edu 37 5 180375359 180375359 + Missense_Mutation SNP A A C TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr5:180375359A>C uc003mmp.2 + 5 1026 c.792A>C c.(790-792)AAA>AAC p.K264N BTNL8_uc003mmq.2_Missense_Mutation_p.N308H|BTNL8_uc011dhg.1_Missense_Mutation_p.K139N|BTNL8_uc010jll.2_Intron|BTNL8_uc010jlm.2_Missense_Mutation_p.K148N|BTNL8_uc011dhh.1_Missense_Mutation_p.K80N NM_001040462 NP_001035552 Q6UX41 BTNL8_HUMAN butyrophilin-like 8 isoform 2 precursor 264 Cytoplasmic (Potential). integral to membrane upper_aerodigestive_tract(1)|skin(1) 2 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TTTCAGGGAAAATCCAGGCGG 0.552000 BTNL8 79908 broad.mit.edu 37 5 180377026 180377026 + Missense_Mutation SNP A A G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr5:180377026A>G uc003mmp.2 + 8 1219 c.985A>G c.(985-987)AGT>GGT p.S329G BTNL8_uc003mmq.2_3'UTR|BTNL8_uc011dhg.1_Missense_Mutation_p.S204G|BTNL8_uc010jll.2_3'UTR|BTNL8_uc010jlm.2_Missense_Mutation_p.S213G|BTNL8_uc011dhh.1_Missense_Mutation_p.S145G NM_001040462 NP_001035552 Q6UX41 BTNL8_HUMAN butyrophilin-like 8 isoform 2 precursor 329 B30.2/SPRY.|Cytoplasmic (Potential). integral to membrane upper_aerodigestive_tract(1)|skin(1) 2 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TACAAGGAAGAGTGTGGTGGC 0.522000 BTNL8 79908 broad.mit.edu 37 5 180377398 180377398 + Missense_Mutation SNP A A C TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr5:180377398A>C uc003mmp.2 + 8 1591 c.1357A>C c.(1357-1359)AAT>CAT p.N453H BTNL8_uc003mmq.2_3'UTR|BTNL8_uc011dhg.1_Missense_Mutation_p.N328H|BTNL8_uc010jll.2_3'UTR|BTNL8_uc010jlm.2_Missense_Mutation_p.N337H|BTNL8_uc011dhh.1_Missense_Mutation_p.N269H NM_001040462 NP_001035552 Q6UX41 BTNL8_HUMAN butyrophilin-like 8 isoform 2 precursor 453 B30.2/SPRY.|Cytoplasmic (Potential). integral to membrane upper_aerodigestive_tract(1)|skin(1) 2 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TAATGAGCAAAATGGAACTCC 0.468000 OR14J1 442191 broad.mit.edu 37 6 29274938 29274938 + Missense_Mutation SNP G G A TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr6:29274938G>A uc011dln.1 + 1 472 c.472G>A c.(472-474)GCT>ACT p.A158T NM_030946 NP_112208 Q9UGF5 O14J1_HUMAN olfactory receptor, family 5, subfamily U member 158 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 GCTCATGCATGCTGCCATTAA 0.473000 BTBD9 114781 broad.mit.edu 37 6 38561952 38561952 + Missense_Mutation SNP A A G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr6:38561952A>G uc003ooa.3 - 4 913 c.337T>C c.(337-339)TTT>CTT p.F113L BTBD9_uc003ony.3_Missense_Mutation_p.F45L|BTBD9_uc010jwv.2_Missense_Mutation_p.F45L|BTBD9_uc010jww.2_RNA|BTBD9_uc010jwx.2_Missense_Mutation_p.F113L NM_052893 NP_443125 Q96Q07 BTBD9_HUMAN BTB (POZ) domain containing 9 isoform a 113 cell adhesion 0 AGGCTCAAAAAGTCCAGCAGC 0.453000 HSP90AB1 3326 broad.mit.edu 37 6 44217547 44217547 + Missense_Mutation SNP T T G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr6:44217547T>G uc003oxa.1 + 4 574 c.490T>G c.(490-492)TCC>GCC p.S164A HSP90AB1_uc011dvr.1_Missense_Mutation_p.S154A|HSP90AB1_uc003oxb.1_Missense_Mutation_p.S164A|HSP90AB1_uc011dvs.1_Intron|HSP90AB1_uc003oxc.1_5'Flank NM_007355 NP_031381 P08238 HS90B_HUMAN heat shock 90kDa protein 1, beta 164 axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein cytosol|melanosome ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding lung(3)|breast(1) 4 all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) TGCTGGAGGTTCCTTCACTGT 0.458000 C6orf138 442213 broad.mit.edu 37 6 47847079 47847079 + Missense_Mutation SNP T T C TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr6:47847079T>C uc011dwm.1 - 3 1535 c.1450A>G c.(1450-1452)AGT>GGT p.S484G C6orf138_uc011dwn.1_Missense_Mutation_p.S248G NM_001013732 NP_001013754 Q6ZW05 CF138_HUMAN hypothetical protein LOC442213 501 integral to membrane hedgehog receptor activity central_nervous_system(1) 1 TAGGAAACACTTGGCGAATCA 0.463000 PKHD1 5314 broad.mit.edu 37 6 51890809 51890809 + Missense_Mutation SNP C C T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr6:51890809C>T uc003pah.1 - 32 4075 c.3799G>A c.(3799-3801)GCT>ACT p.A1267T PKHD1_uc003pai.2_Missense_Mutation_p.A1267T NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 1267 Extracellular (Potential).|IPT/TIG 7. cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1) 44 Lung NSC(77;0.0605) TCCACGGCAGCTGGAACAGTG 0.592000 KIAA1586 57691 broad.mit.edu 37 6 56918933 56918933 + Missense_Mutation SNP A A G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr6:56918933A>G uc003pdj.2 + 4 1806 c.1636A>G c.(1636-1638)AGA>GGA p.R546G KIAA1586_uc011dxm.1_Missense_Mutation_p.R519G NM_020931 NP_065982 Q9HCI6 K1586_HUMAN hypothetical protein LOC57691 546 nucleic acid binding 0 Lung NSC(77;0.0969) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) ATTACAGTCAAGATCAACTAA 0.299000 BAI3 577 broad.mit.edu 37 6 69348663 69348663 + Silent SNP T T G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr6:69348663T>G uc003pev.3 + 3 544 c.96T>G c.(94-96)ACT>ACG p.T32T BAI3_uc010kak.2_Silent_p.T32T NM_001704 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 32 CUB.|Extracellular (Potential). negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1) 50 all_lung(197;0.212) GGTGTTCAACTTTGGTGAAGG 0.393000 COL12A1 1303 broad.mit.edu 37 6 75862083 75862083 + Silent SNP T T C TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr6:75862083T>C uc003phs.2 - 18 3847 c.3681A>G c.(3679-3681)GAA>GAG p.E1227E COL12A1_uc003pht.2_Silent_p.E63E NM_004370 NP_004361 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 long isoform 1227 VWFA 3. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength ovary(6)|large_intestine(1)|breast(1)|skin(1) 9 TGTCAAAGACTTCCACAATAC 0.443000 ANKRD6 22881 broad.mit.edu 37 6 90326294 90326294 + Missense_Mutation SNP T T G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr6:90326294T>G uc003pni.3 + 8 973 c.632T>G c.(631-633)CTT>CGT p.L211R ANKRD6_uc003pne.3_Missense_Mutation_p.L211R|ANKRD6_uc003pnf.3_Missense_Mutation_p.L211R|ANKRD6_uc011dzy.1_Missense_Mutation_p.L211R|ANKRD6_uc010kcd.2_Missense_Mutation_p.L178R|LYRM2_uc010kce.1_Intron|LYRM2_uc003png.2_Intron|ANKRD6_uc003pnh.3_5'UTR NM_014942 NP_055757 Q9Y2G4 ANKR6_HUMAN ankyrin repeat domain 6 211 ANK 7. protein binding ovary(2)|pancreas(1) 3 all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239) BRCA - Breast invasive adenocarcinoma(108;0.0209) GACACAGCACTTCACGTTGCT 0.488000 RSPH4A 345895 broad.mit.edu 37 6 116948943 116948943 + Missense_Mutation SNP A A T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr6:116948943A>T uc003pxe.2 + 3 1218 c.1073A>T c.(1072-1074)AAG>ATG p.K358M RSPH4A_uc010kee.2_Missense_Mutation_p.K358M NM_001010892 NP_001010892 Q5TD94 RSH4A_HUMAN radial spoke head 4 homolog A isoform 1 358 cilium axoneme assembly|cilium movement cytoplasm|cytoskeleton|radial spoke 0 TTCTGGGGAAAGATCTTGGGT 0.343000 Kartagener_syndrome PEX3 8504 broad.mit.edu 37 6 143793448 143793448 + Missense_Mutation SNP A A G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr6:143793448A>G uc003qjl.2 + 8 992 c.730A>G c.(730-732)ACT>GCT p.T244A PEX3_uc011edx.1_Missense_Mutation_p.T244A NM_003630 NP_003621 P56589 PEX3_HUMAN peroxisomal biogenesis factor 3 244 Cytoplasmic (Potential). protein import into peroxisome membrane|transmembrane transport integral to peroxisomal membrane protein binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117) AGATGAAGAAACTCCATTAGC 0.328000 HSPB1 3315 broad.mit.edu 37 7 75932122 75932122 + Silent SNP G G A TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr7:75932122G>A uc003uew.2 + 1 248 c.93G>A c.(91-93)CAG>CAA p.Q31Q HSPB1_uc010ldj.1_5'Flank NM_001540 NP_001531 P04792 HSPB1_HUMAN heat shock protein beta-1 31 anti-apoptosis|cell death|cellular component movement|mRNA metabolic process|positive regulation of interleukin-1 beta production|positive regulation of tumor necrosis factor biosynthetic process|regulation of I-kappaB kinase/NF-kappaB cascade|regulation of translational initiation|response to heat|response to unfolded protein|response to virus cell surface|cytosol|nucleus|proteasome complex|spindle identical protein binding|protein kinase C delta binding|protein kinase C inhibitor activity|ubiquitin binding 0 TCTTCGACCAGGCCTTCGGGC 0.731000 ABCB1 5243 broad.mit.edu 37 7 87160630 87160630 + Nonsense_Mutation SNP C C A TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr7:87160630C>A uc003uiz.1 - 22 3083 c.2665G>T c.(2665-2667)GAA>TAA p.E889* ABCB1_uc011khc.1_Nonsense_Mutation_p.E825* NM_000927 NP_000918 P08183 MDR1_HUMAN ATP-binding cassette, subfamily B, member 1 889 ABC transmembrane type-1 2. G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 7 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) CCTTCTAGTTCTTTCTTATCT 0.348000 PIK3CG 5294 broad.mit.edu 37 7 106509364 106509364 + Missense_Mutation SNP A A G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr7:106509364A>G uc003vdv.3 + 2 1443 c.1358A>G c.(1357-1359)GAG>GGG p.E453G PIK3CG_uc003vdu.2_Missense_Mutation_p.E453G|PIK3CG_uc003vdw.2_Missense_Mutation_p.E453G NM_002649 NP_002640 P48736 PK3CG_HUMAN phosphoinositide-3-kinase, catalytic, gamma 453 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1) 38 CCCAGTTCTGAGTCCAAGGGC 0.537000 ZNF425 155054 broad.mit.edu 37 7 148801027 148801027 + Missense_Mutation SNP T T G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr7:148801027T>G uc003wfj.2 - 4 2009 c.1936A>C c.(1936-1938)AGT>CGT p.S646R NM_001001661 NP_001001661 Q6IV72 ZN425_HUMAN zinc finger protein 425 646 C2H2-type 16. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(2)|ovary(1) 3 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) TGAGTGAAACTTTTGCCGCAC 0.537000 CNBD1 168975 broad.mit.edu 37 8 88365977 88365977 + Silent SNP A A G rs148357017 by1000genomes TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr8:88365977A>G uc003ydy.2 + 10 1314 c.1266A>G c.(1264-1266)GAA>GAG p.E422E NM_173538 NP_775809 Q8NA66 CNBD1_HUMAN cyclic nucleotide binding domain containing 1 422 cNMP. ovary(3) 3 CCAAAAAAGAAGTTGAGATGG 0.328000 RUNX1T1 862 broad.mit.edu 37 8 92998514 92998514 + Nonsense_Mutation SNP G G A TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr8:92998514G>A uc003yfd.2 - 8 1201 c.1117C>T c.(1117-1119)CGA>TGA p.R373* RUNX1T1_uc003yfc.1_Nonsense_Mutation_p.R346*|RUNX1T1_uc003yfe.1_Nonsense_Mutation_p.R336*|RUNX1T1_uc010mao.2_Nonsense_Mutation_p.R346*|RUNX1T1_uc011lgi.1_Nonsense_Mutation_p.R384*|RUNX1T1_uc010man.1_5'UTR|RUNX1T1_uc003yfb.1_Nonsense_Mutation_p.R336* NM_175634 NP_783552 Q06455 MTG8_HUMAN acute myelogenous leukemia 1 translocation 1 373 Important for oligomerization. generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1) 16 BRCA - Breast invasive adenocarcinoma(11;0.0141) GTGAGAGATCGCCTTGTTTTT 0.433000 GSDMC 56169 broad.mit.edu 37 8 130760962 130760962 + Missense_Mutation SNP A A C TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr8:130760962A>C uc003ysr.2 - 14 2194 c.1312T>G c.(1312-1314)TTC>GTC p.F438V NM_031415 NP_113603 Q9BYG8 GSDMC_HUMAN melanoma-derived leucine zipper, extra-nuclear 438 mitochondrion ovary(2)|skin(1) 3 GGGTATCTGAAGTTTGGCTCC 0.527000 FAM135B 51059 broad.mit.edu 37 8 139144979 139144979 + Missense_Mutation SNP T T C TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr8:139144979T>C uc003yuy.2 - 20 4249 c.4078A>G c.(4078-4080)ACT>GCT p.T1360A FAM135B_uc003yux.2_Missense_Mutation_p.T1261A|FAM135B_uc003yuz.2_RNA NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 1360 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) CGGATTAAAGTGCAGTCCTTG 0.542000 HNSCC(54;0.14) IFNA17 3451 broad.mit.edu 37 9 21227998 21227998 + Missense_Mutation SNP A A T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr9:21227998A>T uc003zos.1 - 1 224 c.175T>A c.(175-177)TTT>ATT p.F59I IFNA14_uc003zoo.1_Intron NM_021268 NP_067091 P01571 IFN17_HUMAN interferon, alpha 17 precursor 59 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding 0 Lung(24;2.13e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116) GGAAGTCCAAAGTCATGTCTG 0.512000 GABBR2 9568 broad.mit.edu 37 9 101125010 101125010 + Missense_Mutation SNP T T G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr9:101125010T>G uc004ays.2 - 13 2036 c.1880A>C c.(1879-1881)AAG>ACG p.K627T NM_005458 NP_005449 O75899 GABR2_HUMAN G protein-coupled receptor 51 precursor 627 Extracellular (Potential). negative regulation of adenylate cyclase activity|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity ovary(2)|skin(2) 4 Acute lymphoblastic leukemia(62;0.0527) Baclofen(DB00181) CATGCTGTACTTCTCCACTGT 0.607000 FKTN 2218 broad.mit.edu 37 9 108397526 108397526 + Missense_Mutation SNP A A G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr9:108397526A>G uc004bcr.2 + 11 1583 c.1367A>G c.(1366-1368)GAG>GGG p.E456G FKTN_uc011lvx.1_Intron|FKTN_uc004bcs.2_Missense_Mutation_p.E456G|FKTN_uc011lvy.1_3'UTR|FKTN_uc010mtm.2_Missense_Mutation_p.E324G NM_001079802 NP_001073270 O75072 FKTN_HUMAN fukutin 456 Lumenal (Potential). muscle organ development|negative regulation of cell proliferation|negative regulation of JNK cascade|nervous system development|regulation of protein glycosylation cis-Golgi network|endoplasmic reticulum|extracellular space|Golgi membrane|integral to membrane|nucleus transferase activity breast(2)|ovary(1) 3 GAGTGGGATGAGGTTATCCAG 0.393000 TNFSF8 944 broad.mit.edu 37 9 117692483 117692483 + Missense_Mutation SNP G G A TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr9:117692483G>A uc004bji.1 - 1 288 c.101C>T c.(100-102)ACG>ATG p.T34M NM_001244 NP_001235 P32971 TNFL8_HUMAN tumor necrosis factor (ligand) superfamily, 34 Cytoplasmic (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 GCTGCGGCTCGTGGTCCCCAG 0.597000 CERCAM 51148 broad.mit.edu 37 9 131196814 131196814 + Missense_Mutation SNP A A G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr9:131196814A>G uc004buz.3 + 11 1855 c.1457A>G c.(1456-1458)AAG>AGG p.K486R CERCAM_uc004buy.1_Missense_Mutation_p.K408R|CERCAM_uc010mxz.2_Missense_Mutation_p.K408R|CERCAM_uc010mya.1_Missense_Mutation_p.K327R NM_016174 NP_057258 Q5T4B2 GT253_HUMAN cerebral endothelial cell adhesion molecule 1 486 cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process endoplasmic reticulum lumen|plasma membrane pancreas(1) 1 GGTGCCCGCAAGCTGCTGGCC 0.687000 KIAA0649 9858 broad.mit.edu 37 9 138377178 138377178 + Silent SNP G G A TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr9:138377178G>A uc004cfr.1 + 4 1371 c.822G>A c.(820-822)GTG>GTA p.V274V NM_014811 NP_055626 Q5T8A7 K0649_HUMAN 1A6/DRIM (down-regulated in metastasis) 274 nucleolus protein binding ovary(2)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(145;6.91e-08)|Epithelial(140;4.69e-07)|all cancers(34;9.33e-06) CTACAAAGGTGGTGCATCGGC 0.542000 GPR143 4935 broad.mit.edu 37 X 9693829 9693829 + Missense_Mutation SNP T T G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chrX:9693829T>G uc004cst.1 - 9 1232 c.1232A>C c.(1231-1233)AAA>ACA p.K411T NM_000273 NP_000264 P51810 GP143_HUMAN G protein-coupled receptor 143 391 Cytoplasmic (Potential). calcium-mediated signaling using intracellular calcium source|eye pigment biosynthetic process|melanosome organization|melanosome transport|phosphatidylinositol-mediated signaling|regulation of calcium-mediated signaling|visual perception apical plasma membrane|Golgi apparatus|integral to membrane|lysosomal membrane|melanosome membrane|membrane fraction dopamine binding|L-DOPA receptor activity|protein binding|tyrosine binding ovary(1) 1 Hepatocellular(5;0.000888) ACCCTCATTTTTGTTGCAGGA 0.483000 MAGEB18 286514 broad.mit.edu 37 X 26157256 26157256 + Silent SNP T T C TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chrX:26157256T>C uc004dbq.1 + 2 341 c.154T>C c.(154-156)TTG>CTG p.L52L NM_173699 NP_775970 Q96M61 MAGBI_HUMAN melanoma antigen family B, 18 52 protein binding central_nervous_system(1) 1 ACCCCAGAATTTGCCTGCTGC 0.542000 CACNA1F 778 broad.mit.edu 37 X 49061780 49061780 + Silent SNP G G A TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chrX:49061780G>A uc004dnb.2 - 48 5813 c.5751C>T c.(5749-5751)TTC>TTT p.F1917F CACNA1F_uc010nip.2_Silent_p.F1906F NM_005183 NP_005174 O60840 CAC1F_HUMAN calcium channel, voltage-dependent, L type, 1917 Cytoplasmic (Potential). axon guidance|detection of light stimulus involved in visual perception voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity breast(3)|ovary(1)|kidney(1)|skin(1) 6 Verapamil(DB00661) CCAGGGCCACGAAACGTGGGT 0.602000 NOX1 27035 broad.mit.edu 37 X 100117182 100117182 + Missense_Mutation SNP T T C TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chrX:100117182T>C uc004egj.2 - 7 988 c.782A>G c.(781-783)AAG>AGG p.K261R uc010nnf.2_Intron|NOX1_uc004egl.3_Missense_Mutation_p.K261R|NOX1_uc010nne.2_Missense_Mutation_p.K224R NM_007052 NP_008983 Q9Y5S8 NOX1_HUMAN NADPH oxidase 1 isoform long 261 Ferric oxidoreductase.|Extracellular (Potential). angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation cell junction|early endosome|invadopodium membrane|NADPH oxidase complex electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity ovary(1) 1 CCCTTCAAACTTAGGGCGCCT 0.443000 NXF5 55998 broad.mit.edu 37 X 101095862 101095862 + Silent SNP C C T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chrX:101095862C>T uc011mrk.1 - 9 846 c.486G>A c.(484-486)TTG>TTA p.L162L NXF5_uc004eih.1_RNA|NXF5_uc004eii.1_Intron|NXF5_uc004eij.1_RNA|NXF5_uc004eik.1_RNA|NXF5_uc004eil.1_RNA NM_032946 NP_116564 Q9H1B4 NXF5_HUMAN nuclear RNA export factor 5 162 LRR 1. mRNA export from nucleus|multicellular organismal development actin cytoskeleton|cytoplasm|nucleus nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding central_nervous_system(1) 1 AGTTCAAAGACAACAGCTTTG 0.463000 ARMCX5 64860 broad.mit.edu 37 X 101857231 101857231 + Silent SNP T T C TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chrX:101857231T>C uc004ejg.2 + 6 1043 c.162T>C c.(160-162)GCT>GCC p.A54A ARMCX5_uc004ejh.2_Silent_p.A54A NM_022838 NP_073749 Q6P1M9 ARMX5_HUMAN armadillo repeat containing, X-linked 5 54 binding ovary(1) 1 AGGCCAAAGCTGGTGATGGAG 0.512000 BHLHB9 80823 broad.mit.edu 37 X 102004547 102004547 + Silent SNP A A G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chrX:102004547A>G uc010nog.2 + 4 1195 c.624A>G c.(622-624)AAA>AAG p.K208K BHLHB9_uc011mrq.1_Silent_p.K208K|BHLHB9_uc011mrr.1_Silent_p.K208K|BHLHB9_uc011mrs.1_Silent_p.K208K|BHLHB9_uc011mrt.1_Silent_p.K208K|BHLHB9_uc004ejo.2_Silent_p.K208K|BHLHB9_uc011mru.1_Silent_p.K208K|BHLHB9_uc011mrv.1_Silent_p.K208K NM_001142526 NP_001135998 Q6PI77 BHLH9_HUMAN basic helix-loop-helix domain containing, class 208 cytoplasm|nucleus binding ovary(2) 2 TTAATGAAAAAAATAGGCCCA 0.458000 NXF3 56000 broad.mit.edu 37 X 102337226 102337226 + Missense_Mutation SNP T T G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chrX:102337226T>G uc004eju.2 - 9 918 c.847A>C c.(847-849)AGC>CGC p.S283R NXF3_uc010noi.1_Missense_Mutation_p.S133R|NXF3_uc011mrw.1_Missense_Mutation_p.S283R|NXF3_uc011mrx.1_Missense_Mutation_p.S194R NM_022052 NP_071335 Q9H4D5 NXF3_HUMAN nuclear RNA export factor 3 283 cytoplasm|nuclear RNA export factor complex nucleocytoplasmic transporter activity|nucleotide binding|protein binding ovary(1)|lung(1)|central_nervous_system(1) 3 CACACTGGGCTTCTGTCCGCA 0.537000 ACSL4 2182 broad.mit.edu 37 X 108887374 108887374 + Missense_Mutation SNP T T C TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chrX:108887374T>C uc004eoi.2 - 17 2525 c.2020A>G c.(2020-2022)AGC>GGC p.S674G ACSL4_uc004eoj.2_Missense_Mutation_p.S633G|ACSL4_uc004eok.2_Missense_Mutation_p.S633G NM_022977 NP_075266 O60488 ACSL4_HUMAN acyl-CoA synthetase long-chain family member 4 674 Cytoplasmic (Potential). fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity large_intestine(1)|lung(1)|ovary(1) 3 Icosapent(DB00159)|Troglitazone(DB00197) GGCTCTGGGCTTAATCGAACC 0.323000 DOCK11 139818 broad.mit.edu 37 X 117788650 117788650 + Missense_Mutation SNP A A T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chrX:117788650A>T uc004eqp.2 + 43 4844 c.4781A>T c.(4780-4782)GAG>GTG p.E1594V DOCK11_uc004eqq.2_Missense_Mutation_p.E1373V NM_144658 NP_653259 Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 1594 DHR-2. blood coagulation cytosol GTP binding ovary(3) 3 AAGGAGCATGAGAAAGACCCT 0.468000 ODZ1 10178 broad.mit.edu 37 X 123657356 123657356 + Missense_Mutation SNP A A C TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chrX:123657356A>C uc004euj.2 - 17 2955 c.2891T>G c.(2890-2892)GTC>GGC p.V964G ODZ1_uc011muj.1_Missense_Mutation_p.V963G|ODZ1_uc010nqy.2_Missense_Mutation_p.V964G NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 964 Extracellular (Potential). immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 23 CTGCATGGTGACTTTCTCTAC 0.478000 DCAF12L2 340578 broad.mit.edu 37 X 125298907 125298907 + Missense_Mutation SNP G G A TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chrX:125298907G>A uc004euk.1 - 1 1028 c.1001C>T c.(1000-1002)CCG>CTG p.P334L NM_001013628 NP_001013650 Q5VW00 DC122_HUMAN DDB1 and CUL4 associated factor 12-like 2 334 lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1) 7 GCGCTGGCGCGGATCCAGGAA 0.617000 CXorf40A 91966 broad.mit.edu 37 X 148627278 148627278 + Missense_Mutation SNP G G T rs144189124 byFrequency TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chrX:148627278G>T uc004fdb.2 + 4 374 c.102G>T c.(100-102)CAG>CAT p.Q34H CXorf40A_uc011mxm.1_Missense_Mutation_p.Q34H|CXorf40A_uc011mxn.1_Missense_Mutation_p.Q34H|CXorf40A_uc004fdd.2_Missense_Mutation_p.Q34H|CXorf40A_uc004fde.1_Missense_Mutation_p.Q34H|CXorf40A_uc011mxo.1_Missense_Mutation_p.A124S|CXorf40A_uc004fdg.2_Missense_Mutation_p.Q34H|CXorf40A_uc004fdf.2_Missense_Mutation_p.Q34H|CXorf40A_uc004fdh.2_Missense_Mutation_p.Q34H|CXorf40A_uc010nsy.2_Missense_Mutation_p.Q34H|CXorf40A_uc004fdi.2_Missense_Mutation_p.Q51H NM_178124 NP_835225 Q8TE69 CX04A_HUMAN chromosome X open reading frame 40 34 protein binding 0 Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662) TGAGCAGCCAGCGGAACTGTA 0.592000 GABRQ 55879 broad.mit.edu 37 X 151817720 151817720 + Silent SNP C C T TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chrX:151817720C>T uc004ffp.1 + 5 554 c.534C>T c.(532-534)ACC>ACT p.T178T NM_018558 NP_061028 Q9UN88 GBRT_HUMAN gamma-aminobutyric acid (GABA) receptor, theta 178 Extracellular (Potential). cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity ovary(2)|pancreas(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) GCAGACTCACCACTACAGCAG 0.507000 PLXNB3 5365 broad.mit.edu 37 X 153042361 153042361 + Missense_Mutation SNP T T G TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chrX:153042361T>G uc004fii.2 + 29 5027 c.4853T>G c.(4852-4854)GTG>GGG p.V1618G PLXNB3_uc010nuk.2_Missense_Mutation_p.V1641G|PLXNB3_uc011mzd.1_Missense_Mutation_p.V1257G|SRPK3_uc004fik.2_5'UTR NM_005393 NP_005384 Q9ULL4 PLXB3_HUMAN plexin B3 isoform 1 1618 Cytoplasmic (Potential). axon guidance integral to membrane|intracellular|plasma membrane protein binding|receptor activity lung(1) 1 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) GGAGCAACAGTGGGGCTCGTC 0.612000 ARID1A 8289 broad.mit.edu 37 1 27106130 27106134 + Frame_Shift_Del DEL TGTTG TGTTG - TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr1:27106130_27106134delTGTTG uc001bmv.1 + 20 6114_6118 c.5741_5745delTGTTG c.(5740-5745)ATGTTGfs p.M1914fs ARID1A_uc001bmu.1_Frame_Shift_Del_p.M1697fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.M760fs|ARID1A_uc009vsm.1_Frame_Shift_Del_p.M242fs|ARID1A_uc009vsn.1_Frame_Shift_Del_p.M156fs NM_006015 NP_006006 O14497 ARI1A_HUMAN AT rich interactive domain 1A isoform a 1914_1915 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 142 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) ATGGATGACATGTTGTCTACTCGGT 0.541 Mis|N|F|S|D clear cell ovarian carcinoma|RCC BTNL8 79908 broad.mit.edu 37 5 180377441 180377441 + Frame_Shift_Del DEL A A - TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr5:180377440_180377440GA>G uc003mmp.3 + 7 1633 c.1399_1399GA>G c.(1399-1401)gagfs p.E467fs BTNL8_uc003mmq.3_3'UTR|BTNL8_uc010jll.3_3'UTR|BTNL8_uc011dhg.2_Frame_Shift_Del_p.E342fs|BTNL8_uc010jlm.3_Frame_Shift_Del_p.E351fs|BTNL8_uc011dhh.2_Frame_Shift_Del_p.E283fs NM_001040462 NP_001153182 Q6UX41 BTNL8_HUMAN Homo sapiens butyrophilin-like 8 (BTNL8), transcript variant 2, mRNA. 467 integral to membrane breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CCAGGAATCAGAGAAAGAGGC 0.517 ZNF518A 9849 broad.mit.edu 37 10 97918065 97918065 + Frame_Shift_Del DEL C C - TCGA-BR-8687-01A-11D-2394-08 TCGA-BR-8687-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd5f700f-a8cf-471b-a268-6ec604c3bed6 54a3ff23-3014-4dc2-8bf9-d5c6b3e63618 g.chr10:97918064_97918064AC>A uc001klp.3 + 5 2842 c.1985_1985AC>A c.(1984-1986)aacfs p.N662fs ZNF518A_uc001klo.1_Frame_Shift_Del_p.N132fs|ZNF518A_uc001klq.3_Frame_Shift_Del_p.N662fs|ZNF518A_uc001klr.3_Frame_Shift_Del_p.N662fs NM_014803 NP_055618 Q6AHZ1 Z518A_HUMAN Homo sapiens zinc finger protein 518A (ZNF518A), mRNA. 662 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2) 24 Colorectal(252;0.0815) Epithelial(162;4.23e-08)|all cancers(201;1.85e-06) GTGTATGAAAACCCTCAAAGA 0.373