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 ELTD1 64123 broad.mit.edu 37 1 79404922 79404922 + Missense_Mutation SNP T T A TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 g.chr1:79404922T>A uc001diq.3 - 4 503 c.347A>T c.(346-348)CAT>CTT p.H116L NM_022159 NP_071442 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain 116 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(1)|skin(1) 2 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) ATTATCTAAATGGCAGTTTGC 0.249 CELSR2 1952 broad.mit.edu 37 1 109811770 109811770 + Missense_Mutation SNP G G A TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 g.chr1:109811770G>A uc001dxa.3 + 20 6731 c.6670G>A c.(6670-6672)GCC>ACC p.A2224T NM_001408 NP_001399 Q9HCU4 CELR2_HUMAN cadherin EGF LAG seven-pass G-type receptor 2 2224 Extracellular (Potential). dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(4)|lung(3)|skin(1) 8 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) CCCCGGAGAGGCCCAGGAGCC 0.692 KCNA10 3744 broad.mit.edu 37 1 111059876 111059876 + Nonstop_Mutation SNP A A C TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 g.chr1:111059876A>C uc001dzt.1 - 1 1922 c.1534T>G c.(1534-1536)TGA>GGA p.*512G NM_005549 NP_005540 Q16322 KCA10_HUMAN potassium voltage-gated channel, shaker-related 512 voltage-gated potassium channel complex intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity ovary(3)|large_intestine(1) 4 all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301) Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134) TGGACTGATCATTTCCTAGAC 0.303 SPTA1 6708 broad.mit.edu 37 1 158618325 158618325 + Silent SNP T T G TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 g.chr1:158618325T>G uc001fst.1 - 26 3887 c.3688A>C c.(3688-3690)AGG>CGG p.R1230R NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 1230 Spectrin 12. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) ACGAGGTCCCTTTCAAAGCCC 0.502 NFASC 23114 broad.mit.edu 37 1 204923461 204923461 + Missense_Mutation SNP C C T TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 g.chr1:204923461C>T uc001hbj.2 + 6 689 c.361C>T c.(361-363)CGC>TGC p.R121C NFASC_uc001hbh.2_Missense_Mutation_p.R121C|NFASC_uc010pqz.1_Missense_Mutation_p.R115C|NFASC_uc010pra.1_Missense_Mutation_p.R115C|NFASC_uc001hbi.2_Missense_Mutation_p.R115C|NFASC_uc009xbg.1_Missense_Mutation_p.R188C|NFASC_uc010prb.1_Missense_Mutation_p.R115C|NFASC_uc010prc.1_5'UTR NM_001005388 NP_001005388 O94856 NFASC_HUMAN neurofascin isoform 1 precursor 121 Ig-like C2-type 1.|Extracellular (Potential). axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding ovary(3)|breast(1)|central_nervous_system(1)|skin(1) 6 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) GTGCTTCGCCCGCAACAAATT 0.607 HEATR1 55127 broad.mit.edu 37 1 236730052 236730052 + Missense_Mutation SNP T T G TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 g.chr1:236730052T>G uc001hyd.1 - 30 4327 c.4202A>C c.(4201-4203)CAA>CCA p.Q1401P HEATR1_uc009xgh.1_Missense_Mutation_p.Q563P NM_018072 NP_060542 Q9H583 HEAT1_HUMAN protein BAP28 1401 rRNA processing nucleolus|ribonucleoprotein complex protein binding ovary(2)|skin(1) 3 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) ATCAACAAGTTGAACAAGGAT 0.473 NLRP3 114548 broad.mit.edu 37 1 247588491 247588491 + Silent SNP C C T TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 g.chr1:247588491C>T uc001icr.2 + 5 1884 c.1746C>T c.(1744-1746)GGC>GGT p.G582G NLRP3_uc001ics.2_Silent_p.G582G|NLRP3_uc001icu.2_Silent_p.G582G|NLRP3_uc001icw.2_Silent_p.G582G|NLRP3_uc001icv.2_Silent_p.G582G|NLRP3_uc010pyw.1_Silent_p.G580G|NLRP3_uc001ict.1_Silent_p.G580G NM_001079821 NP_001073289 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 isoform a 582 detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1) 26 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) TCCTCTTTGGCCTGGTAAACC 0.448 MYO3A 53904 broad.mit.edu 37 10 26385407 26385407 + Missense_Mutation SNP A A T TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 g.chr10:26385407A>T uc001isn.2 + 16 2020 c.1660A>T c.(1660-1662)AGG>TGG p.R554W MYO3A_uc009xko.1_Missense_Mutation_p.R554W|MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Missense_Mutation_p.R554W NM_017433 NP_059129 Q8NEV4 MYO3A_HUMAN myosin IIIA 554 Myosin head-like. 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 TAAGCCTCCCAGGTAATCTAC 0.318 DLG5 9231 broad.mit.edu 37 10 79579661 79579661 + Missense_Mutation SNP G G A TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 g.chr10:79579661G>A uc001jzk.2 - 16 3588 c.3518C>T c.(3517-3519)CCG>CTG p.P1173L DLG5_uc001jzi.2_5'UTR|DLG5_uc001jzj.2_Missense_Mutation_p.P588L|DLG5_uc009xru.1_RNA|DLG5_uc001jzl.3_Missense_Mutation_p.P777L NM_004747 NP_004738 Q8TDM6 DLG5_HUMAN discs large homolog 5 1173 cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis cell junction|cytoplasm beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity ovary(5)|breast(3) 8 all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146) Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446) ACCCACAGACGGCCTGCTAGG 0.652 ABCC2 1244 broad.mit.edu 37 10 101578969 101578969 + Missense_Mutation SNP T T A TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 g.chr10:101578969T>A uc001kqf.2 + 19 2702 c.2563T>A c.(2563-2565)TTT>ATT p.F855I NM_000392 NP_000383 Q92887 MRP2_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), 855 Cytoplasmic (By similarity).|ABC transporter 1. apical plasma membrane|integral to plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity ovary(1) 1 Colorectal(252;0.234) Epithelial(162;2.77e-10)|all cancers(201;2.47e-08) Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) AAAAGGAGAGTTTGCTAAGAA 0.448 SORCS3 22986 broad.mit.edu 37 10 107007060 107007060 + Missense_Mutation SNP G G T TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 g.chr10:107007060G>T uc001kyi.1 + 22 3303 c.3076G>T c.(3076-3078)GGC>TGC p.G1026C SORCS3_uc010qqz.1_RNA NM_014978 NP_055793 Q9UPU3 SORC3_HUMAN VPS10 domain receptor protein SORCS 3 precursor 1026 Lumenal (Potential). integral to membrane neuropeptide receptor activity ovary(6)|skin(3)|central_nervous_system(1) 10 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) AAAAGATATTGGCAATGTCAT 0.388 OR52A5 390054 broad.mit.edu 37 11 5153403 5153403 + Missense_Mutation SNP A A G TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 g.chr11:5153403A>G uc010qyx.1 - 1 470 c.470T>C c.(469-471)CTT>CCT p.L157P NM_001005160 NP_001005160 Q9H2C5 O52A5_HUMAN olfactory receptor, family 52, subfamily A, 157 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|lung(1)|central_nervous_system(1) 4 Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2) AGGTATTATAAGAATGGCAGC 0.473 C11orf82 220042 broad.mit.edu 37 11 82644674 82644674 + Missense_Mutation SNP G G C TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 g.chr11:82644674G>C uc001ozt.2 + 6 2538 c.2294G>C c.(2293-2295)AGT>ACT p.S765T C11orf82_uc010rsr.1_Missense_Mutation_p.S464T|C11orf82_uc010rss.1_Missense_Mutation_p.S464T|C11orf82_uc009yvd.2_Intron NM_145018 NP_659455 Q8IXT1 NOXIN_HUMAN nitric oxide-inducible gene protein 765 apoptosis|cell cycle arrest cytoplasm|nucleus ovary(2) 2 TTTGAAAATAGTCAAGACTTT 0.348 CNTN5 53942 broad.mit.edu 37 11 100170065 100170065 + Missense_Mutation SNP G G A TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 g.chr11:100170065G>A uc001pga.2 + 20 2896 c.2557G>A c.(2557-2559)GTT>ATT p.V853I CNTN5_uc001pfz.2_Missense_Mutation_p.V853I|CNTN5_uc001pgb.2_Missense_Mutation_p.V779I|CNTN5_uc010ruk.1_Missense_Mutation_p.V124I NM_014361 NP_055176 O94779 CNTN5_HUMAN contactin 5 isoform long 853 Fibronectin type-III 2. 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) GAAAGTTGGCGTTTATAACAA 0.368 CCDC15 80071 broad.mit.edu 37 11 124829033 124829033 + Missense_Mutation SNP A A T TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 g.chr11:124829033A>T uc001qbm.3 + 3 459 c.200A>T c.(199-201)GAA>GTA p.E67V NM_025004 NP_079280 Q0P6D6 CCD15_HUMAN coiled-coil domain containing 15 67 Potential. centrosome ovary(1)|central_nervous_system(1) 2 all_hematologic(175;0.215) Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413) TTAATTGAAGAAGAACTAAAG 0.294 CACNA1C 775 broad.mit.edu 37 12 2676928 2676928 + Silent SNP C C T TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 g.chr12:2676928C>T uc009zdu.1 + 13 2176 c.1863C>T c.(1861-1863)TGC>TGT p.C621C CACNA1C_uc009zdv.1_Silent_p.C618C|CACNA1C_uc001qkb.2_Silent_p.C621C|CACNA1C_uc001qkc.2_Silent_p.C621C|CACNA1C_uc001qke.2_Silent_p.C621C|CACNA1C_uc001qkf.2_Silent_p.C621C|CACNA1C_uc001qjz.2_Silent_p.C621C|CACNA1C_uc001qkd.2_Silent_p.C621C|CACNA1C_uc001qkg.2_Silent_p.C621C|CACNA1C_uc009zdw.1_Silent_p.C621C|CACNA1C_uc001qkh.2_Silent_p.C621C|CACNA1C_uc001qkl.2_Silent_p.C621C|CACNA1C_uc001qkn.2_Silent_p.C621C|CACNA1C_uc001qko.2_Silent_p.C621C|CACNA1C_uc001qkp.2_Silent_p.C621C|CACNA1C_uc001qkr.2_Silent_p.C621C|CACNA1C_uc001qku.2_Silent_p.C621C|CACNA1C_uc001qkq.2_Silent_p.C621C|CACNA1C_uc001qks.2_Silent_p.C621C|CACNA1C_uc001qkt.2_Silent_p.C621C|CACNA1C_uc001qka.1_Silent_p.C156C|CACNA1C_uc001qki.1_Silent_p.C357C|CACNA1C_uc001qkj.1_Silent_p.C357C|CACNA1C_uc001qkk.1_Silent_p.C357C|CACNA1C_uc001qkm.1_Silent_p.C357C NM_199460 NP_955630 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, 621 II.|Helical; Name=S4 of repeat II; (Potential). axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity ovary(10)|central_nervous_system(1) 11 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) TGCTCAGATGCGTCCGGCTGC 0.572 FGF6 2251 broad.mit.edu 37 12 4554596 4554596 + Silent SNP C C T TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 g.chr12:4554596C>T uc001qmr.1 - 1 185 c.141G>A c.(139-141)ACG>ACA p.T47T NM_020996 NP_066276 P10767 FGF6_HUMAN fibroblast growth factor 6 precursor 47 angiogenesis|cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation extracellular space growth factor activity lung(2)|ovary(1) 3 Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229) AGTCCAGCAGCGTGTTGTTGG 0.652 KRT6B 3854 broad.mit.edu 37 12 52841341 52841341 + Missense_Mutation SNP C C A rs140834481 byFrequency TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 g.chr12:52841341C>A uc001sak.2 - 8 1489 c.1441G>T c.(1441-1443)GTT>TTT p.V481F NM_005555 NP_005546 P04259 K2C6B_HUMAN keratin 6B 481 Tail. ectoderm development keratin filament structural constituent of cytoskeleton ovary(2) 2 BRCA - Breast invasive adenocarcinoma(357;0.083) ACTTGTCCAACGCCTTCGCCA 0.567 NBEA 26960 broad.mit.edu 37 13 36223810 36223810 + Missense_Mutation SNP C C A TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 g.chr13:36223810C>A uc001uvb.2 + 51 7932 c.7726C>A c.(7726-7728)CCG>ACG p.P2576T NBEA_uc010abi.2_Missense_Mutation_p.P1232T|NBEA_uc010tee.1_Missense_Mutation_p.P369T|NBEA_uc010tef.1_Missense_Mutation_p.P369T|NBEA_uc001uvd.2_Missense_Mutation_p.P154T NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN neurobeachin 2576 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) TCCACAGAGTCCGCTCATGTT 0.428 CCNA1 8900 broad.mit.edu 37 13 37014260 37014260 + Silent SNP G G A TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 g.chr13:37014260G>A uc001uvr.3 + 6 1388 c.1038G>A c.(1036-1038)CAG>CAA p.Q346Q CCNA1_uc010teo.1_Silent_p.Q302Q|CCNA1_uc010abq.2_Silent_p.Q302Q|CCNA1_uc010abp.2_Silent_p.Q302Q|CCNA1_uc001uvs.3_Silent_p.Q345Q|CCNA1_uc010abr.2_RNA NM_003914 NP_003905 P78396 CCNA1_HUMAN cyclin A1 isoform a 346 cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis cytosol|microtubule cytoskeleton|nucleoplasm protein kinase binding lung(2)|skin(2)|ovary(1) 5 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;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242) CCACCAACCAGTTTCTCCTTC 0.448 SPERT 220082 broad.mit.edu 37 13 46287489 46287489 + Missense_Mutation SNP C C A TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 g.chr13:46287489C>A uc001van.1 + 3 409 c.329C>A c.(328-330)GCC>GAC p.A110D SPERT_uc001vao.2_Missense_Mutation_p.A74D NM_152719 NP_689932 Q8NA61 SPERT_HUMAN spermatid associated 110 cytoplasmic membrane-bounded vesicle central_nervous_system(1)|pancreas(1) 2 Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;7.26e-05) ATGTCCCAGGCCGACCTGGAG 0.652 TMCO3 55002 broad.mit.edu 37 13 114202736 114202736 + Missense_Mutation SNP G G A rs145599687 TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 g.chr13:114202736G>A uc001vtu.3 + 12 2250 c.1889G>A c.(1888-1890)CGG>CAG p.R630Q NM_017905 NP_060375 Q6UWJ1 TMCO3_HUMAN transmembrane and coiled-coil domains 3 630 integral to membrane solute:hydrogen antiporter activity 0 Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983) all cancers(43;0.0317) CTGGGGAGCCGGGCGCGAAGA 0.647 LRRC16B 90668 broad.mit.edu 37 14 24538363 24538363 + Missense_Mutation SNP C C T TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 g.chr14:24538363C>T uc001wlj.2 + 39 4157 c.4000C>T c.(4000-4002)CGG>TGG p.R1334W LRRC16B_uc001wlk.2_Missense_Mutation_p.R387W|CPNE6_uc010tnv.1_5'Flank|CPNE6_uc001wlm.2_5'Flank|CPNE6_uc001wll.2_5'Flank NM_138360 NP_612369 Q8ND23 LR16B_HUMAN leucine rich repeat containing 16B 1334 ovary(2)|breast(2)|pancreas(1) 5 GBM - Glioblastoma multiforme(265;0.019) TGATCCAGGCCGGCGGACTGC 0.612 RYR3 6263 broad.mit.edu 37 15 34102755 34102755 + Missense_Mutation SNP G G A TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 g.chr15:34102755G>A uc001zhi.2 + 71 10172 c.10102G>A c.(10102-10104)GTG>ATG p.V3368M RYR3_uc010bar.2_Missense_Mutation_p.V3363M NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 3368 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) CTCCCTCATCGTGGCTGCACT 0.502 AVEN 57099 broad.mit.edu 37 15 34158855 34158855 + Missense_Mutation SNP C C T TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 g.chr15:34158855C>T uc001zhj.2 - 6 1104 c.1048G>A c.(1048-1050)GAG>AAG p.E350K NM_020371 NP_065104 Q9NQS1 AVEN_HUMAN cell death regulator aven 350 anti-apoptosis|apoptosis endomembrane system|intracellular|membrane|membrane fraction protein binding kidney(1) 1 all_lung(180;1.78e-08) all cancers(64;1.66e-15)|GBM - Glioblastoma multiforme(113;1.42e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0359) AGCTCTTCCTCGGTAACATTT 0.428 DUOX1 53905 broad.mit.edu 37 15 45442866 45442866 + Missense_Mutation SNP G G A TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 g.chr15:45442866G>A uc001zus.1 + 23 3201 c.2855G>A c.(2854-2856)CGG>CAG p.R952Q DUOX1_uc001zut.1_Missense_Mutation_p.R952Q|DUOX1_uc010bee.1_Missense_Mutation_p.R332Q|DUOX1_uc001zuu.2_Missense_Mutation_p.R94Q NM_017434 NP_059130 Q9NRD9 DUOX1_HUMAN dual oxidase 1 precursor 952 Cytoplasmic (Potential). cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity ovary(5)|skin(2)|breast(1) 8 all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717) GACCTCTGCCGGCGAGCCTCC 0.597 SEMA6D 80031 broad.mit.edu 37 15 48063347 48063347 + Missense_Mutation SNP T T C TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 g.chr15:48063347T>C uc010bek.2 + 19 2947 c.2587T>C c.(2587-2589)TCA>CCA p.S863P SEMA6D_uc001zvw.2_Missense_Mutation_p.S801P|SEMA6D_uc001zvy.2_Missense_Mutation_p.S863P|SEMA6D_uc001zvz.2_Missense_Mutation_p.S807P|SEMA6D_uc001zwa.2_3'UTR|SEMA6D_uc001zwb.2_Missense_Mutation_p.S801P|SEMA6D_uc001zwc.2_Missense_Mutation_p.S788P NM_153618 NP_705871 Q8NFY4 SEM6D_HUMAN semaphorin 6D isoform 4 precursor 863 Cytoplasmic (Potential). axon guidance cytoplasm|integral to membrane|plasma membrane receptor activity skin(3)|breast(1) 4 all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18) all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06) TCTCACAAAGTCATCCAGTAA 0.428 MEF2A 4205 broad.mit.edu 37 15 100214776 100214776 + Missense_Mutation SNP C C T TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 g.chr15:100214776C>T uc010urw.1 + 5 934 c.575C>T c.(574-576)TCT>TTT p.S192F MEF2A_uc010urv.1_Missense_Mutation_p.S122F|MEF2A_uc010bos.2_Missense_Mutation_p.S190F|MEF2A_uc002bvf.2_Missense_Mutation_p.S192F|MEF2A_uc002bve.2_Missense_Mutation_p.S190F|MEF2A_uc002bvg.2_Missense_Mutation_p.S190F|MEF2A_uc002bvi.2_Missense_Mutation_p.S190F|MEF2A_uc010bot.2_Missense_Mutation_p.S122F NM_005587 NP_005578 Q02078 MEF2A_HUMAN myocyte enhancer factor 2A isoform 1 192 apoptosis|BMK cascade|cardiac conduction|cellular response to calcium ion|dendrite morphogenesis|innate immune response|mitochondrial genome maintenance|mitochondrion distribution|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|ventricular cardiac myofibril development nuclear chromatin|nucleoplasm activating transcription factor binding|histone acetyltransferase binding|histone deacetylase binding|protein heterodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|SMAD binding ovary(1) 1 Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163) OV - Ovarian serous cystadenocarcinoma(32;0.00085) AGAAATGTGTCTCCTGGAGCT 0.453 C16orf11 146325 broad.mit.edu 37 16 613320 613320 + Missense_Mutation SNP G G A TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 g.chr16:613320G>A uc002chk.2 + 2 305 c.26G>A c.(25-27)CGC>CAC p.R9H NM_145270 NP_660313 P0CG20 CP011_HUMAN hypothetical protein LOC146325 9 central_nervous_system(1) 1 GGCTCATGCCGCGTGGGCACA 0.662 SOX8 30812 broad.mit.edu 37 16 1035103 1035103 + Missense_Mutation SNP G G A TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 g.chr16:1035103G>A uc002ckn.2 + 3 1173 c.1058G>A c.(1057-1059)CGA>CAA p.R353Q NM_014587 NP_055402 P57073 SOX8_HUMAN SRY (sex determining region Y)-box 8 353 adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|Sertoli cell development|signal transduction|spermatogenesis|ureter morphogenesis cytoplasm|nucleus central_nervous_system(1)|skin(1) 2 Hepatocellular(780;0.00308) GACCAGCCCCGAGGCTCGCCC 0.647 NLRC3 197358 broad.mit.edu 37 16 3614583 3614583 + Missense_Mutation SNP C C A TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 g.chr16:3614583C>A uc010btn.2 - 5 766 c.355G>T c.(355-357)GCC>TCC p.A119S NM_178844 NP_849172 Q7RTR2 NLRC3_HUMAN NOD3 protein 119 I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation cytoplasm ATP binding ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1) 6 ACGGTCCTGGCGGGGTGCCCG 0.706 NETO2 81831 broad.mit.edu 37 16 47143563 47143563 + Silent SNP G G A rs139454743 TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 g.chr16:47143563G>A uc002eer.1 - 7 1099 c.714C>T c.(712-714)TTC>TTT p.F238F NETO2_uc002eeq.1_Silent_p.F11F|NETO2_uc010vgf.1_Silent_p.F95F|NETO2_uc002ees.1_Silent_p.F231F NM_018092 NP_060562 Q8NC67 NETO2_HUMAN neuropilin- and tolloid-like protein 2 238 Extracellular (Potential).|CUB 2. integral to membrane receptor activity 0 all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174) AGACTGCAACGAAGTTTCTCT 0.353 HNSCC(25;0.065) CNGB1 1258 broad.mit.edu 37 16 58001053 58001053 + Silent SNP G G A TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 g.chr16:58001053G>A uc002emt.2 - 2 203 c.138C>T c.(136-138)GCC>GCT p.A46A CNGB1_uc010cdh.2_Silent_p.A46A|CNGB1_uc002emu.2_Silent_p.A46A NM_001297 NP_001288 Q14028 CNGB1_HUMAN cyclic nucleotide gated channel beta 1 isoform 46 Glu-rich. sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(3)|pancreas(1) 4 ACTCTGTCTCGGCCTCCTCAG 0.627 SERPINB2 5055 broad.mit.edu 37 18 61565002 61565002 + Silent SNP C C T TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 g.chr18:61565002C>T uc010xeu.1 + 6 792 c.459C>T c.(457-459)CCC>CCT p.P153P SERPINB2_uc002ljo.2_Silent_p.P153P|SERPINB2_uc010dqh.2_Silent_p.P83P|SERPINB2_uc002ljp.1_5'UTR|SERPINB2_uc002ljq.1_5'UTR NM_001143818 NP_001137290 P05120 PAI2_HUMAN serine (or cysteine) proteinase inhibitor, clade 153 anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis extracellular space|Golgi apparatus|plasma membrane serine-type endopeptidase inhibitor activity lung(1)|skin(1) 2 Esophageal squamous(42;0.131) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013) CCTCAGAACCCCAGGCAGTAG 0.353 MUC16 94025 broad.mit.edu 37 19 9086755 9086755 + Missense_Mutation SNP C C A TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 g.chr19:9086755C>A uc002mkp.2 - 1 5264 c.5060G>T c.(5059-5061)AGT>ATT p.S1687I NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 1687 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TCCTGGAGCACTAGTAACAAG 0.483 GIPC1 10755 broad.mit.edu 37 19 14591487 14591487 + Missense_Mutation SNP C C T rs151133470 TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 g.chr19:14591487C>T uc002myt.2 - 5 662 c.392G>A c.(391-393)CGC>CAC p.R131H GIPC1_uc002myu.2_Missense_Mutation_p.R131H|GIPC1_uc002myv.2_Missense_Mutation_p.R34H|GIPC1_uc002myw.2_Missense_Mutation_p.R34H|GIPC1_uc002myx.2_Missense_Mutation_p.R131H|GIPC1_uc002myy.2_Missense_Mutation_p.R34H NM_005716 NP_005707 O14908 GIPC1_HUMAN regulator of G-protein signalling 19 interacting 131 endothelial cell migration|G-protein coupled receptor protein signaling pathway|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane actin binding|myosin binding|protein homodimerization activity|receptor binding 0 CACCTCCTTGCGCTGCCCCTT 0.617 OREG0025316 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) ZNF567 163081 broad.mit.edu 37 19 37211224 37211224 + Missense_Mutation SNP A A C TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 g.chr19:37211224A>C uc010xtl.1 + 6 1820 c.1598A>C c.(1597-1599)TAT>TCT p.Y533S ZNF567_uc002oeo.1_Missense_Mutation_p.Y533S|ZNF567_uc010xtk.1_Missense_Mutation_p.Y533S|ZNF567_uc002oep.3_Missense_Mutation_p.Y502S|ZNF567_uc002oeq.1_Missense_Mutation_p.Y502S NM_152603 NP_689816 Q8N184 ZN567_HUMAN zinc finger protein 567 533 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) GAGAAACCCTATGTTTGTAAT 0.393 MBOAT2 129642 broad.mit.edu 37 2 9008633 9008633 + Silent SNP G G A TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 g.chr2:9008633G>A uc002qzg.1 - 9 1063 c.930C>T c.(928-930)GAC>GAT p.D310D MBOAT2_uc010yix.1_Silent_p.D310D NM_138799 NP_620154 Q6ZWT7 MBOA2_HUMAN O-acyltransferase (membrane bound) domain 310 phospholipid biosynthetic process integral to membrane 1-acylglycerol-3-phosphate O-acyltransferase activity 0 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) CTCCATTTTCGTCATACCCTC 0.333 DDX1 1653 broad.mit.edu 37 2 15742674 15742674 + Missense_Mutation SNP A A G TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 g.chr2:15742674A>G uc002rce.2 + 7 598 c.310A>G c.(310-312)ATT>GTT p.I104V DDX1_uc010yjq.1_Missense_Mutation_p.I12V NM_004939 NP_004930 Q92499 DDX1_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 1 104 B30.2/SPRY.|Necessary for interaction with HNRNPK.|Necessary for interaction with RELA.|Helicase ATP-binding. DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent cleavage body|stress granule|tRNA-splicing ligase complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197) all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694) GBM - Glioblastoma multiforme(3;0.00969) Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133) AAATCCAGCAATTGGGTCAGA 0.393 CRIM1 51232 broad.mit.edu 37 2 36749368 36749368 + Silent SNP C C T rs142923562 by1000genomes TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 g.chr2:36749368C>T uc002rpd.2 + 13 2379 c.2340C>T c.(2338-2340)AGC>AGT p.S780S NM_016441 NP_057525 Q9NZV1 CRIM1_HUMAN cysteine-rich motor neuron 1 precursor 780 Extracellular (Potential).|VWFC 5. nervous system development|regulation of cell growth extracellular region|integral to membrane|plasma membrane insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity ovary(2)|skin(1) 3 all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154) GCATTGATAGCGTAATTAGCT 0.468 VWA3B 200403 broad.mit.edu 37 2 98804462 98804462 + Missense_Mutation SNP G G A TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 g.chr2:98804462G>A uc002syo.2 + 10 1600 c.1336G>A c.(1336-1338)GCA>ACA p.A446T VWA3B_uc010yvh.1_Missense_Mutation_p.A296T|VWA3B_uc002syj.2_RNA|VWA3B_uc002syk.1_Intron|VWA3B_uc002syl.1_Intron|VWA3B_uc002sym.2_Missense_Mutation_p.A446T|VWA3B_uc002syn.1_Intron|VWA3B_uc010yvi.1_Missense_Mutation_p.A103T NM_144992 NP_659429 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 446 p.A446A(1) ovary(3)|large_intestine(2)|skin(1) 6 GACAGTCCATGCAAAATATTG 0.478 NPHP1 4867 broad.mit.edu 37 2 110881384 110881384 + Missense_Mutation SNP C C T TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 g.chr2:110881384C>T uc002tfn.3 - 20 2277 c.2183G>A c.(2182-2184)AGA>AAA p.R728K NPHP1_uc002tfm.3_Missense_Mutation_p.R673K|NPHP1_uc002tfl.3_Missense_Mutation_p.R729K|NPHP1_uc002tfo.3_Missense_Mutation_p.R610K|NPHP1_uc010ywx.1_Missense_Mutation_p.R672K NM_207181 NP_997064 O15259 NPHP1_HUMAN nephrocystin 1 isoform 2 728 actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium protein binding|structural molecule activity ovary(2) 2 TGCATTCTTTCTCATTTCACC 0.483 SCN9A 6335 broad.mit.edu 37 2 167055493 167055493 + Missense_Mutation SNP G G A TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 g.chr2:167055493G>A uc010fpl.2 - 27 5964 c.5623C>T c.(5623-5625)CGG>TGG p.R1875W uc002udp.2_Intron NM_002977 NP_002968 Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha 1886 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|central_nervous_system(5)|skin(2) 13 Lamotrigine(DB00555)|Lidocaine(DB00281) TCTTGTTTCCGTTTTAGTGTG 0.403 TLK1 9874 broad.mit.edu 37 2 171854267 171854267 + Silent SNP T T C rs149221901 TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 g.chr2:171854267T>C uc002ugn.2 - 19 2443 c.1971A>G c.(1969-1971)GTA>GTG p.V657V TLK1_uc002ugo.2_Silent_p.V678V|TLK1_uc002ugp.2_Silent_p.V609V|TLK1_uc002ugq.2_RNA|TLK1_uc010zdn.1_Silent_p.V561V NM_012290 NP_036422 Q9UKI8 TLK1_HUMAN tousled-like kinase 1 isoform 1 657 Protein kinase. cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus nucleus ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(1) 1 CAACCGACCATACATCAACCT 0.368 WIPF1 7456 broad.mit.edu 37 2 175432646 175432646 + Missense_Mutation SNP G G A TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 g.chr2:175432646G>A uc002uiy.2 - 7 1617 c.1285C>T c.(1285-1287)CCC>TCC p.P429S uc002uiw.2_Intron|uc002uix.1_Intron|WIPF1_uc002uja.2_Missense_Mutation_p.P429S|WIPF1_uc010fqt.1_Missense_Mutation_p.P429S|WIPF1_uc002uiz.2_Missense_Mutation_p.P429S|WIPF1_uc002ujb.1_Missense_Mutation_p.P429S NM_003387 NP_003378 O43516 WIPF1_HUMAN WAS/WASL interacting protein family, member 1 429 Pro-rich. actin polymerization or depolymerization|protein complex assembly cytoplasmic membrane-bounded vesicle actin binding|profilin binding ovary(1)|skin(1) 2 GGAGGTGGGGGAGGTGCCCCA 0.587 HOXD9 3235 broad.mit.edu 37 2 176987764 176987764 + Missense_Mutation SNP G G T TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 g.chr2:176987764G>T uc010zex.1 + 1 352 c.268G>T c.(268-270)GCG>TCG p.A90S NM_014213 NP_055028 P28356 HXD9_HUMAN homeobox D9 90 nucleus sequence-specific DNA binding 0 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195) Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556) CCCGGCAGCGGCGGCGATGAG 0.741 TTC30B 150737 broad.mit.edu 37 2 178417162 178417162 + Silent SNP G G A TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 g.chr2:178417162G>A uc002uln.2 - 1 363 c.330C>T c.(328-330)GCC>GCT p.A110A TTC30B_uc010zfc.1_5'UTR NM_152517 NP_689730 Q8N4P2 TT30B_HUMAN tetratricopeptide repeat domain 30B 110 cell projection organization cilium binding 0 OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362) GGCTGTGGTAGGCGGGGTTAT 0.637 TTN 7273 broad.mit.edu 37 2 179393870 179393870 + Silent SNP G G C TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 g.chr2:179393870G>C uc010zfg.1 - 309 99128 c.98904C>G c.(98902-98904)GTC>GTG p.V32968V uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.V26663V|TTN_uc010zfi.1_Silent_p.V26596V|TTN_uc010zfj.1_Silent_p.V26471V|TTN_uc002umq.2_5'UTR NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 33895 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) TTTCCTCTTGGACAACAGCTT 0.388 TGM6 343641 broad.mit.edu 37 20 2381041 2381041 + Missense_Mutation SNP G G A TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 g.chr20:2381041G>A uc002wfy.1 + 7 1001 c.940G>A c.(940-942)GTG>ATG p.V314M TGM6_uc010gal.1_Missense_Mutation_p.V314M NM_198994 NP_945345 O95932 TGM3L_HUMAN transglutaminase 6 314 cell death|peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity ovary(3)|skin(1) 4 L-Glutamine(DB00130) GGACAAATACGTGGACTCCTT 0.617 C20orf79 140856 broad.mit.edu 37 20 18794852 18794852 + Silent SNP C C T TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 g.chr20:18794852C>T uc002wrk.2 + 1 483 c.393C>T c.(391-393)GCC>GCT p.A131A uc002wrj.1_Intron NM_178483 NP_848578 Q9UJQ7 CT079_HUMAN hypothetical protein LOC140856 131 SCP2. sterol binding skin(3) 3 CTTTCCTTGCCGGAAAGTTCA 0.478 PTPRT 11122 broad.mit.edu 37 20 40733227 40733227 + Missense_Mutation SNP T T G TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 g.chr20:40733227T>G uc002xkg.2 - 25 3706 c.3522A>C c.(3520-3522)CAA>CAC p.Q1174H PTPRT_uc010ggj.2_Missense_Mutation_p.Q1193H|PTPRT_uc010ggi.2_Missense_Mutation_p.Q377H NM_007050 NP_008981 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 1174 Cytoplasmic (Potential). homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity skin(8)|ovary(7)|lung(5) 20 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) CATCTTTGATTTGGCTGGAGT 0.378 ARFGEF2 10564 broad.mit.edu 37 20 47605094 47605094 + Missense_Mutation SNP C C A TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 g.chr20:47605094C>A uc002xtx.3 + 18 2580 c.2428C>A c.(2428-2430)CTG>ATG p.L810M ARFGEF2_uc010zyf.1_Missense_Mutation_p.L103M NM_006420 NP_006411 Q9Y6D5 BIG2_HUMAN ADP-ribosylation factor guanine 810 exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction cytosol|Golgi membrane ARF guanyl-nucleotide exchange factor activity breast(3)|upper_aerodigestive_tract(1) 4 BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198) TAGTAAAGATCTGCCAGAAGA 0.294 SEZ6L 23544 broad.mit.edu 37 22 26709789 26709789 + Missense_Mutation SNP G G A TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 g.chr22:26709789G>A uc003acb.2 + 9 2092 c.1936G>A c.(1936-1938)GAG>AAG p.E646K SEZ6L_uc003acc.2_Missense_Mutation_p.E646K|SEZ6L_uc011akc.1_Missense_Mutation_p.E646K|SEZ6L_uc003acd.2_Missense_Mutation_p.E646K|SEZ6L_uc011akd.1_Missense_Mutation_p.E646K|SEZ6L_uc003ace.2_Missense_Mutation_p.E646K|SEZ6L_uc003acf.1_Missense_Mutation_p.E419K|SEZ6L_uc010gvc.1_Missense_Mutation_p.E419K NM_021115 NP_066938 Q9BYH1 SE6L1_HUMAN seizure related 6 homolog (mouse)-like 646 CUB 3.|Extracellular (Potential). endoplasmic reticulum membrane|integral to membrane ovary(4)|central_nervous_system(1)|pancreas(1) 6 AAACTGGCCCGAGCCCTACGT 0.493 NEFH 4744 broad.mit.edu 37 22 29885490 29885490 + Missense_Mutation SNP C C A TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 g.chr22:29885490C>A uc003afo.2 + 4 1932 c.1861C>A c.(1861-1863)CCA>ACA p.P621T NEFH_uc003afp.2_Intron NM_021076 NP_066554 P12036 NFH_HUMAN neurofilament, heavy polypeptide 200kDa 621 30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail. cell death|nervous system development neurofilament 0 gGCCAAGTCCCCAGTGAAGGA 0.453 GTSE1 51512 broad.mit.edu 37 22 46724658 46724658 + Missense_Mutation SNP C C T TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 g.chr22:46724658C>T uc011aqy.1 + 10 2010 c.1798C>T c.(1798-1800)CCT>TCT p.P600S GTSE1_uc011aqz.1_Missense_Mutation_p.P447S|GTSE1_uc003bhm.1_Missense_Mutation_p.P225S|GTSE1_uc003bhn.2_5'Flank|uc011ara.1_5'Flank|uc003bho.3_5'Flank NM_016426 NP_057510 Q9NYZ3 GTSE1_HUMAN G-2 and S-phase expressed 1 581 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process cytoplasmic microtubule ovary(1) 1 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00462) CAGGGGTTCTCCTCCTTCCCG 0.493 GLB1 2720 broad.mit.edu 37 3 33055719 33055719 + Silent SNP G G A TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 g.chr3:33055719G>A uc003cfi.1 - 15 1680 c.1563C>T c.(1561-1563)CGC>CGT p.R521R GLB1_uc003cfh.1_Silent_p.R491R|GLB1_uc003cfj.1_Silent_p.R390R|GLB1_uc011axk.1_Silent_p.C569C NM_000404 NP_000395 P16278 BGAL_HUMAN galactosidase, beta 1 isoform a preproprotein 521 carbohydrate metabolic process lysosome|perinuclear region of cytoplasm beta-galactosidase activity|cation binding|protein binding large_intestine(1) 1 Melanoma(143;0.104) CCAGGTGGCTGCACACTGCAT 0.552 CTNNB1 1499 broad.mit.edu 37 3 41266103 41266103 + Missense_Mutation SNP G G A rs121913399 TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 g.chr3:41266103G>A uc010hia.1 + 4 256 c.100G>A c.(100-102)GGA>AGA p.G34R CTNNB1_uc003ckp.2_Missense_Mutation_p.G34R|CTNNB1_uc003ckq.2_Missense_Mutation_p.G34R|CTNNB1_uc003ckr.2_Missense_Mutation_p.G34R|CTNNB1_uc011azf.1_Missense_Mutation_p.G27R|CTNNB1_uc011azg.1_Intron|uc010hib.1_RNA NM_001904 NP_001895 P35222 CTNB1_HUMAN beta-catenin 34 G -> E (in PTR).|G -> R (in hepatocellular carcinoma). adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding p.G34V(64)|p.G34E(64)|p.A5_A80del(63)|p.G34R(60)|p.H24_S47del(9)|p.A5_A80>D(7)|p.A5_Q143del(7)|p.Q28_H134del(5)|p.W25_I140del(4)|p.V22_G38del(3)|p.T3_A126del(2)|p.M5_N141>D(2)|p.D32_S47del(2)|p.W25_H36del(2)|p.V22_L139>V(2)|p.A5_Y142>D(2)|p.A5fs*7(2)|p.?(2)|p.L10_N141del(2)|p.D6_A43del(1)|p.E9_S47del(1)|p.Q28_Q61del(1)|p.A20_R151del(1)|p.A20_N141del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.S29_H36del(1)|p.Y30_A97del(1)|p.A20_A80del(1)|p.Q28_A43del(1)|p.E15_I140>V(1)|p.D17_P128del(1)|p.H24_M131del(1)|p.L7_I140del(1)|p.K19_Y142>V(1)|p.A20_L148del(1)|p.V22_A80del(1)|p.W25_I35del(1)|p.V22_G80>NNNNN(1)|p.GIHS34?(1)|p.A5_I35del(1)|p.A20_Q143del(1)|p.A13_R151del(1)|p.S23_I140del(1)|p.M1_A87del(1)|p.V22_T102del(1)|p.S33_G34del(1)|p.S23_A39del(1)|p.A21_A80del(1)|p.D6_I140del(1)|p.Q28_I140del(1)|p.E9_A80del(1)|p.G34_S37del(1)|p.M14_S45del(1)|p.M8_G50del(1)|p.A5_G80>(1)|p.D32_H36>D(1)|p.S33_G34insGTS(1)|p.P16_K133del(1)|p.A5_T59del(1)|p.A20_I35del(1)|p.M1_V173del(1)|p.A5_R90del(1)|p.V22_Y64del(1)|p.M8_A80del(1)|p.S33_S37del(1)|p.E9_I140del(1)|p.S33_G34insS(1)|p.Y30_T40del(1)|p.S33_G34insGI(1)|p.M1_T42del(1)|p.A5_Q143>E(1)|p.A5_Q72del(1)|p.Y30_A80del(1)|p.D32fs*9(1)|p.D6_K133del(1)|p.A5_T42del(1)|p.A5_D144>D(1)|p.A5_T40del(1)|p.D17_A126del(1)|p.A5_E54del(1)|p.S23_I35del(1)|p.V22_S71>A(1)|p.W25_A80del(1)|p.A20_Q72del(1)|p.A20_S111del(1)|p.D32_H36del(1) CTNNB1/PLAG1(60) liver(806)|soft_tissue(609)|large_intestine(243)|endometrium(222)|kidney(172)|stomach(157)|central_nervous_system(139)|ovary(104)|skin(97)|pancreas(91)|adrenal_gland(85)|pituitary(81)|salivary_gland(62)|haematopoietic_and_lymphoid_tissue(57)|thyroid(55)|biliary_tract(41)|lung(38)|prostate(24)|bone(20)|small_intestine(17)|cervix(9)|parathyroid(9)|urinary_tract(8)|breast(7)|oesophagus(5)|NS(3)|pleura(2)|upper_aerodigestive_tract(2)|eye(1) 3166 KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294) Lithium(DB01356) CCTGGACTCTGGAATCCATTC 0.488 15 H|Mis|T PLAG1 colorectal|cvarian| hepatoblastoma|others|pleomorphic salivary adenoma Pilomatrixoma_Familial_Clustering_of SEMA5B 54437 broad.mit.edu 37 3 122630821 122630821 + Missense_Mutation SNP C C T TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 g.chr3:122630821C>T uc003efz.1 - 20 3296 c.2992G>A c.(2992-2994)GCC>ACC p.A998T SEMA5B_uc011bju.1_Missense_Mutation_p.A904T|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Missense_Mutation_p.A998T|SEMA5B_uc003efy.1_5'UTR NM_001031702 NP_001026872 Q9P283 SEM5B_HUMAN semaphorin 5B isoform 1 998 Extracellular (Potential).|TSP type-1 5. cell differentiation|nervous system development integral to membrane receptor activity ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1) 7 GBM - Glioblastoma multiforme(114;0.0367) CCAGCACAGGCGCTGGACCCT 0.667 FAT4 79633 broad.mit.edu 37 4 126239828 126239828 + Missense_Mutation SNP A A C TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 g.chr4:126239828A>C uc003ifj.3 + 1 2262 c.2262A>C c.(2260-2262)GAA>GAC p.E754D NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 754 Cadherin 7.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 TAGACAGAGAAGAAAAAACAG 0.428 C4orf29 80167 broad.mit.edu 37 4 128951826 128951826 + Missense_Mutation SNP A A G TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 g.chr4:128951826A>G uc003ifr.2 + 12 1558 c.1240A>G c.(1240-1242)AGG>GGG p.R414G C4orf29_uc003ifs.2_Missense_Mutation_p.R342G|C4orf29_uc003ift.2_Missense_Mutation_p.R279G|C4orf29_uc003ifu.2_Missense_Mutation_p.R279G|C4orf29_uc010inz.2_Missense_Mutation_p.R245G|C4orf29_uc003ifv.2_Missense_Mutation_p.R279G NM_001039717 NP_001034806 Q0P651 CD029_HUMAN hypothetical protein LOC80167 precursor 414 extracellular region ovary(1) 1 AGGACTCTTCAGGTAAGACGG 0.348 F11 2160 broad.mit.edu 37 4 187209681 187209681 + Silent SNP A A G TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 g.chr4:187209681A>G uc003iza.1 + 15 2124 c.1791A>G c.(1789-1791)GAA>GAG p.E597E uc003izb.1_RNA NM_000128 NP_000119 P03951 FA11_HUMAN coagulation factor XI precursor 597 Peptidase S1. blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis extracellular space|plasma membrane heparin binding|serine-type endopeptidase activity 0 all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202) OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176) Coagulation Factor IX(DB00100) GCTGGGGCGAAGGCTGTGCTC 0.557 ADRB2 154 broad.mit.edu 37 5 148207465 148207465 + Silent SNP C C T TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 g.chr5:148207465C>T uc003lpr.1 + 1 1310 c.1071C>T c.(1069-1071)AAC>AAT p.N357N SH3TC2_uc003lpp.1_Intron NM_000024 NP_000015 P07550 ADRB2_HUMAN adrenergic, beta-2-, receptor, surface 357 Cytoplasmic. activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis endosome|integral to plasma membrane|lysosome|receptor complex beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373) ACTCCAGCAACGGCAACACAG 0.527 MYOZ3 91977 broad.mit.edu 37 5 150050196 150050196 + Missense_Mutation SNP G G A TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 g.chr5:150050196G>A uc003lss.2 + 3 799 c.212G>A c.(211-213)CGG>CAG p.R71Q MYOZ3_uc003lsr.2_Missense_Mutation_p.R71Q NM_001122853 NP_001116325 Q8TDC0 MYOZ3_HUMAN myozenin 3 71 Binding to FLNC. sarcomere protein binding skin(1) 1 Medulloblastoma(196;0.134)|all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GCCAGCCAGCGGGCGGTGAGT 0.383 FAM153A 285596 broad.mit.edu 37 5 177156542 177156542 + Missense_Mutation SNP G G T TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 g.chr5:177156542G>T uc010jkp.1 - 18 1067 c.646C>A c.(646-648)CTG>ATG p.L216M FAM153A_uc011dgd.1_Intron|FAM153A_uc003mib.1_RNA|FAM153A_uc003mic.2_Missense_Mutation_p.L216M NM_173663 NP_775934 Q9UHL3 F153A_HUMAN hypothetical protein LOC285596 216 skin(1) 1 all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TGCTCCTCCAGGTCTTCCAGG 0.512 DDX43 55510 broad.mit.edu 37 6 74110065 74110065 + Missense_Mutation SNP T T G TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 g.chr6:74110065T>G uc003pgw.2 + 3 759 c.415T>G c.(415-417)TAC>GAC p.Y139D DDX43_uc011dyn.1_RNA NM_018665 NP_061135 Q9NXZ2 DDX43_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 43 139 intracellular ATP binding|ATP-dependent RNA helicase activity|RNA binding ovary(2)|upper_aerodigestive_tract(1)|skin(1) 4 AGAAGAAAATTACAATTCAGA 0.323 C6orf165 154313 broad.mit.edu 37 6 88119576 88119576 + Missense_Mutation SNP G G A TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 g.chr6:88119576G>A uc003plv.2 + 2 111 c.19G>A c.(19-21)GAA>AAA p.E7K C6orf165_uc003plw.2_5'UTR|C6orf165_uc010kbv.1_RNA|C6orf165_uc003plu.1_Missense_Mutation_p.E7K NM_001031743 NP_001026913 Q8IYR0 CF165_HUMAN hypothetical protein LOC154313 isoform 1 7 central_nervous_system(1) 1 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0419) AACTCAGGCCGAAAGTGTTAT 0.333 IYD 389434 broad.mit.edu 37 6 150710675 150710675 + Silent SNP G G A TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 g.chr6:150710675G>A uc003qnu.1 + 2 506 c.366G>A c.(364-366)ACG>ACA p.T122T IYD_uc003qnv.1_Silent_p.T122T|IYD_uc003qnw.1_RNA|IYD_uc003qnx.1_Silent_p.T122T|IYD_uc010kik.1_Intron NM_203395 NP_981932 Q6PHW0 IYD1_HUMAN iodotyrosine dehalogenase 1 isoform 2 122 Extracellular (Potential). cellular nitrogen compound metabolic process|hormone biosynthetic process integral to membrane|plasma membrane ovary(2) 2 Ovarian(120;0.028) BRCA - Breast invasive adenocarcinoma(37;0.215) OV - Ovarian serous cystadenocarcinoma(155;4.16e-12) TCATCAGAACGGCAGGTTTGT 0.388 SMOC2 64094 broad.mit.edu 37 6 169051410 169051410 + Silent SNP G G A TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 g.chr6:169051410G>A uc003qws.1 + 10 977 c.957G>A c.(955-957)GCG>GCA p.A319A SMOC2_uc003qwr.1_Silent_p.A330A|SMOC2_uc011egu.1_5'UTR NM_022138 NP_071421 Q9H3U7 SMOC2_HUMAN SPARC related modular calcium binding 2 319 signal transduction basement membrane calcium ion binding ovary(1) 1 Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231) OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109) TTCTGGACGCGCTGTCCACGG 0.532 KLHL7 55975 broad.mit.edu 37 7 23183596 23183596 + Missense_Mutation SNP G G C TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 g.chr7:23183596G>C uc003svs.3 + 6 1038 c.745G>C c.(745-747)GCT>CCT p.A249P KLHL7_uc003svr.3_Missense_Mutation_p.A227P|KLHL7_uc011jys.1_Missense_Mutation_p.A173P|KLHL7_uc011jyt.1_Missense_Mutation_p.A24P|KLHL7_uc003svt.2_Missense_Mutation_p.A201P|KLHL7_uc011jyv.1_Missense_Mutation_p.A24P NM_001031710 NP_001026880 Q8IXQ5 KLHL7_HUMAN kelch-like 7 isoform 1 249 Golgi apparatus|nucleolus|plasma membrane 0 AACGGTACAAGCTGAACCACT 0.358 LRRC17 10234 broad.mit.edu 37 7 102584659 102584659 + Missense_Mutation SNP G G A TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 g.chr7:102584659G>A uc003vau.2 + 4 1320 c.931G>A c.(931-933)GCT>ACT p.A311T FBXL13_uc010liq.1_Intron|FBXL13_uc003vaq.2_Intron|FBXL13_uc010lir.1_Intron|FBXL13_uc003var.2_Intron|FBXL13_uc003vas.2_Intron|LRRC17_uc003vat.2_3'UTR NM_001031692 NP_001026862 Q8N6Y2 LRC17_HUMAN leucine rich repeat containing 17 isoform 1 311 LRR 5. bone marrow development|negative regulation of osteoclast differentiation|ossification extracellular space ovary(1) 1 GTTTCCAGCCGCTTTTTTAGG 0.274 ST7 7982 broad.mit.edu 37 7 116811007 116811007 + Missense_Mutation SNP A A C TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 g.chr7:116811007A>C uc003vin.2 + 10 1269 c.1055A>C c.(1054-1056)CAG>CCG p.Q352P ST7_uc011knl.1_Missense_Mutation_p.Q329P|ST7_uc003vio.2_Missense_Mutation_p.Q329P|ST7_uc003viq.2_Missense_Mutation_p.Q306P|ST7_uc011knm.1_Missense_Mutation_p.Q309P|ST7_uc003vir.2_Missense_Mutation_p.Q277P|ST7_uc011knn.1_Missense_Mutation_p.Q300P|ST7_uc003vix.1_Missense_Mutation_p.Q165P NM_021908 NP_068708 Q9NRC1 ST7_HUMAN suppression of tumorigenicity 7 isoform b 352 integral to membrane binding central_nervous_system(1)|skin(1) 2 all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847) STAD - Stomach adenocarcinoma(10;0.000512) LUSC - Lung squamous cell carcinoma(290;0.133) GCTGATGTTCAGGCAGTCTTA 0.378 C8orf74 203076 broad.mit.edu 37 8 10555329 10555329 + Silent SNP C C T TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 g.chr8:10555329C>T uc003wtd.1 + 3 491 c.462C>T c.(460-462)GCC>GCT p.A154A C8orf74_uc003wte.1_RNA NM_001040032 NP_001035121 Q6P047 CH074_HUMAN hypothetical protein LOC203076 154 0 COAD - Colon adenocarcinoma(149;0.0811) TCCCGCTGGCCGAGGGCATGG 0.642 MTUS1 57509 broad.mit.edu 37 8 17612060 17612060 + Silent SNP G G C TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 g.chr8:17612060G>C uc003wxv.2 - 2 1731 c.1257C>G c.(1255-1257)GTC>GTG p.V419V MTUS1_uc010lsy.2_RNA|MTUS1_uc003wxw.2_Silent_p.V419V|MTUS1_uc010lsz.2_Silent_p.V419V NM_001001924 NP_001001924 Q9ULD2 MTUS1_HUMAN mitochondrial tumor suppressor 1 isoform 1 419 Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle ovary(1)|skin(1) 2 Colorectal(111;0.0778) CTGTGCTAATGACCATATCAT 0.443 KCNQ3 3786 broad.mit.edu 37 8 133192544 133192544 + Missense_Mutation SNP C C A TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 g.chr8:133192544C>A uc003ytj.2 - 4 862 c.637G>T c.(637-639)GTT>TTT p.V213F KCNQ3_uc010mdt.2_Missense_Mutation_p.V213F NM_004519 NP_004510 O43525 KCNQ3_HUMAN potassium voltage-gated channel KQT-like protein 213 Helical; Name=Segment S3; (Potential). axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 5 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) CCCACAGCAACCACTGGCACA 0.582 TLN1 7094 broad.mit.edu 37 9 35715063 35715063 + Missense_Mutation SNP C C T TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 g.chr9:35715063C>T uc003zxt.2 - 21 3101 c.2747G>A c.(2746-2748)CGC>CAC p.R916H NM_006289 NP_006280 Q9Y490 TLN1_HUMAN talin 1 916 axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding lung(7)|breast(3)|ovary(2)|central_nervous_system(1) 13 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) CACCTCCAGGCGCTGCACCAG 0.587 ZER1 10444 broad.mit.edu 37 9 131503885 131503885 + Missense_Mutation SNP C C T TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 g.chr9:131503885C>T uc004bwa.1 - 11 2099 c.1666G>A c.(1666-1668)GAT>AAT p.D556N NM_006336 NP_006327 Q7Z7L7 ZER1_HUMAN zyg-11 homolog B (C. elegans)-like 556 ARM 2. ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity ovary(1) 1 GGAGTTTCATCTGTGATGTTC 0.582 NOTCH1 4851 broad.mit.edu 37 9 139391079 139391079 + Missense_Mutation SNP G G C TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 g.chr9:139391079G>C uc004chz.2 - 34 7112 c.7112C>G c.(7111-7113)ACC>AGC p.T2371S NM_017617 NP_060087 P46531 NOTC1_HUMAN notch1 preproprotein 2371 Cytoplasmic (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1) 856 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) GGCCAGCCGGGTGCTGGGCAG 0.642 T|Mis|O TRB@ T-ALL HNSCC(8;0.001) TPRN 286262 broad.mit.edu 37 9 140093635 140093635 + Missense_Mutation SNP C C A TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 g.chr9:140093635C>A uc004clt.2 - 1 1346 c.1346G>T c.(1345-1347)GGG>GTG p.G449V TPRN_uc004clu.2_Missense_Mutation_p.G449V NM_173691 NP_775962 Q4KMQ1 TPRN_HUMAN hypothetical protein LOC286262 isoform 2 510 sensory perception of sound stereocilium 0 CTGCAGAGTCCCTGGCTTCCT 0.677 USP9X 8239 broad.mit.edu 37 X 41000004 41000004 + Silent SNP A A G TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 g.chrX:41000004A>G uc004dfb.2 + 7 1383 c.750A>G c.(748-750)CAA>CAG p.Q250Q USP9X_uc004dfc.2_Silent_p.Q250Q NM_001039590 NP_001034679 Q93008 USP9X_HUMAN ubiquitin specific protease 9, X-linked isoform 250 BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity lung(3)|breast(2)|ovary(1) 6 TAAACGTTCAAATAATTGCAG 0.333 IQSEC2 23096 broad.mit.edu 37 X 53280144 53280144 + Silent SNP T T G TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 g.chrX:53280144T>G uc004dsd.2 - 5 1815 c.1614A>C c.(1612-1614)CCA>CCC p.P538P IQSEC2_uc004dsc.2_Silent_p.P333P NM_001111125 NP_001104595 Q5JU85 IQEC2_HUMAN IQ motif and Sec7 domain 2 isoform1 528 Pro-rich. regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity ovary(3) 3 GGCCCTGGGGTGGGGGTTCTG 0.632 TBX22 50945 broad.mit.edu 37 X 79283522 79283522 + Missense_Mutation SNP C C T TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 g.chrX:79283522C>T uc010nmg.1 + 8 1030 c.896C>T c.(895-897)CCA>CTA p.P299L TBX22_uc004edi.1_Missense_Mutation_p.P179L|TBX22_uc004edj.1_Missense_Mutation_p.P299L NM_001109878 NP_001103348 Q9Y458 TBX22_HUMAN T-box 22 isoform 1 299 multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity lung(7)|large_intestine(3)|central_nervous_system(2)|breast(1)|skin(1)|ovary(1) 15 GAGACCTACCCATGGAGGCCT 0.353 ACTRT1 139741 broad.mit.edu 37 X 127185409 127185409 + Silent SNP G G A TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 g.chrX:127185409G>A uc004eum.2 - 1 974 c.777C>T c.(775-777)CCC>CCT p.P259P NM_138289 NP_612146 Q8TDG2 ACTT1_HUMAN actin-related protein T1 259 cytoplasm|cytoskeleton ovary(2)|central_nervous_system(2)|skin(1) 5 AAAGAACCTCGGGCACTTGGT 0.532 SMARCA1 6594 broad.mit.edu 37 X 128622973 128622973 + Nonsense_Mutation SNP T T A TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 g.chrX:128622973T>A uc004eun.3 - 16 2151 c.2038A>T c.(2038-2040)AAA>TAA p.K680* SMARCA1_uc004eup.3_Nonsense_Mutation_p.K668*|SMARCA1_uc011muk.1_Nonsense_Mutation_p.K680*|SMARCA1_uc011mul.1_Nonsense_Mutation_p.K668* NM_003069 NP_003060 P28370 SMCA1_HUMAN SWI/SNF-related matrix-associated 680 ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent NURF complex ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding ovary(3)|skin(1) 4 TCACTCTCTTTAGAAGCAAAA 0.363 PLXNA3 55558 broad.mit.edu 37 X 153698478 153698478 + Missense_Mutation SNP G G A TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 g.chrX:153698478G>A uc004flm.2 + 29 5127 c.4954G>A c.(4954-4956)GAG>AAG p.E1652K NM_017514 NP_059984 P51805 PLXA3_HUMAN plexin A3 precursor 1652 Cytoplasmic (Potential). axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GATGGTCTCCGAGATCTACCT 0.637 PRKCA 5578 broad.mit.edu 37 17 64683380 64683397 + Splice_Site DEL TACATTGTAAGTGGTCTC TACATTGTAAGTGGTCTC - TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 g.chr17:64683380_64683397delTACATTGTAAGTGGTCTC uc002jfp.1 + 6 730 c.686_splice c.e6+1 p.F229_splice PRKCA_uc002jfo.1_Splice_Site_p.F100_splice NM_002737 NP_002728 P17252 KPCA_HUMAN protein kinase C, alpha activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding central_nervous_system(4)|large_intestine(1)|stomach(1)|lung(1)|breast(1)|ovary(1) 9 BRCA - Breast invasive adenocarcinoma(6;4.68e-09) Phosphatidylserine(DB00144)|Vitamin E(DB00163) ATGAGTCCTTTACATTGTAAGTGGTCTCTCCTTGATCA 0.385 RIPK4 54101 broad.mit.edu 37 21 43165916 43165917 + Splice_Site INS - - A TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 g.chr21:43165916_43165917insA uc002yzn.1 - 6 984 c.936_splice c.e6+1 p.E312_splice NM_020639 NP_065690 P57078 RIPK4_HUMAN ankyrin repeat domain 3 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1) 7 AAGGACTCGTTACCTCGCTCCT 0.569 RIPK4 54101 broad.mit.edu 37 21 43165917 43165918 + Splice_Site INS - - A TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 g.chr21:43165916_43165917T>TA uc002yzn.1 - 6 984 c.936_splice c.e6+1 p.E312_splice NM_020639 NP_065690 Q96T11 Q96T11_HUMAN Homo sapiens receptor-interacting serine-threonine kinase 4 (RIPK4), mRNA. 312 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 AAGGACTCGTTACCTCGCTCCT 0.569 ARID1A 8289 broad.mit.edu 37 1 27100852 27100852 + Frame_Shift_Del DEL C C - TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 g.chr1:27100852delC uc001bmv.1 + 18 4507 c.4134delC c.(4132-4134)GGCfs p.G1378fs ARID1A_uc001bmt.1_Frame_Shift_Del_p.G1377fs|ARID1A_uc001bmu.1_Intron|ARID1A_uc001bmw.1_Frame_Shift_Del_p.G995fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.G224fs|ARID1A_uc009vsm.1_Intron|ARID1A_uc009vsn.1_5'UTR NM_006015 NP_006006 O14497 ARI1A_HUMAN AT rich interactive domain 1A isoform a 1378 Gln-rich. 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) GCACATATGGCCCTCCTGCCA 0.587 Mis|N|F|S|D clear cell ovarian carcinoma|RCC FAM46C 54855 broad.mit.edu 37 1 118165775 118165775 + Frame_Shift_Del DEL C C - TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 g.chr1:118165775delC uc001ehe.2 + 2 484 c.285delC c.(283-285)TTCfs p.F95fs NM_017709 NP_060179 Q5VWP2 FA46C_HUMAN hypothetical protein LOC54855 95 0 Lung SC(450;0.225) all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05) Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247) ACCTAATCTTCCATGTGGCTC 0.517 Multiple Myeloma(3;1.13e-06) PRKCA 5578 broad.mit.edu 37 17 64683380 64683397 + Splice_Site DEL TACATTGTAAGTGGTCTC TACATTGTAAGTGGTCTC - TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 g.chr17:64683380_64683397delTACATTGTAAGTGGTCTC uc002jfp.1 + 6 730 c.686_splice c.e6+1 p.F229_splice PRKCA_uc002jfo.1_Splice_Site_p.F100_splice NM_002737 NP_002728 P17252 KPCA_HUMAN protein kinase C, alpha activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding central_nervous_system(4)|large_intestine(1)|stomach(1)|lung(1)|breast(1)|ovary(1) 9 BRCA - Breast invasive adenocarcinoma(6;4.68e-09) Phosphatidylserine(DB00144)|Vitamin E(DB00163) ATGAGTCCTTTACATTGTAAGTGGTCTCTCCTTGATCA 0.385 RIPK4 54101 broad.mit.edu 37 21 43165916 43165917 + Splice_Site INS - - A TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 g.chr21:43165916_43165917insA uc002yzn.1 - 6 984 c.936_splice c.e6+1 p.E312_splice NM_020639 NP_065690 P57078 RIPK4_HUMAN ankyrin repeat domain 3 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1) 7 AAGGACTCGTTACCTCGCTCCT 0.569 KIAA1549 57670 broad.mit.edu 37 7 138564334 138564334 + Frame_Shift_Del DEL T T - TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 g.chr7:138564334delT uc011kql.1 - 12 4344 c.4295delA c.(4294-4296)AAGfs p.K1432fs KIAA1549_uc011kqi.1_Frame_Shift_Del_p.K216fs|KIAA1549_uc003vuk.3_Frame_Shift_Del_p.K1382fs|KIAA1549_uc011kqj.1_Frame_Shift_Del_p.K1432fs|KIAA1549_uc011kqk.1_Frame_Shift_Del_p.K216fs NM_020910 NP_065961 Q9HCM3 K1549_HUMAN hypothetical protein LOC57670 isoform 1 1432 integral to membrane KIAA1549/BRAF(229) central_nervous_system(229)|pancreas(1) 230 TCCCGGCGTCTTATCTCCTGC 0.517 O BRAF pilocytic astrocytoma RNF128 79589 broad.mit.edu 37 X 105937253 105937254 + Frame_Shift_Del DEL CA CA - TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 g.chrX:105937253_105937254delCA uc004emk.2 + 1 186_187 c.21_22delCA c.(19-24)TCCAGTfs p.S7fs NM_024539 NP_078815 Q8TEB7 RN128_HUMAN ring finger protein 128 isoform 2 Error:Variant_position_missing_in_Q8TEB7_after_alignment endomembrane system|integral to membrane|perinuclear region of cytoplasm zinc ion binding ovary(1)|central_nervous_system(1) 2 AGAATAGGTCCAGTTTTTTTTG 0.347 DOM3Z 1797 broad.mit.edu 37 6 31938556 31938579 + In_Frame_Del DEL GTTGGTGTTAACCTCCCCAGAGGG GTTGGTGTTAACCTCCCCAGAGGG - TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 g.chr6:31938555_31938578CGTTGGTGTTAACCTCCCCAGAGGG>C uc003nyp.1 - 3 950_973 c.617_640CCCTCTGGGGAGGTTAACACCAACG>G c.(616-642)ccctctggggaggttaacaccaacgtg>cGtg p.206_214PSGEVNTNV>R DOM3Z_uc003nyq.1_Intron|DOM3Z_uc010jtl.1_3'UTR|STK19_uc003nyt.3_5'Flank|STK19_uc011dow.2_5'Flank|STK19_uc011dox.1_5'Flank|STK19_uc003nyv.3_5'Flank|STK19_uc003nyw.3_5'Flank|STK19_uc010jtn.1_5'Flank NM_005510 NP_005501 O77932 DOM3Z_HUMAN Homo sapiens dom-3 homolog Z (C. elegans) (DOM3Z), mRNA. 206 identical protein binding|metal ion binding|nucleotide binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 7 CAGAAGGCCACGTTGGTGTTAACCTCCCCAGAGGGGTCTGGGGA 0.625 LIPF 8513 broad.mit.edu 37 10 90438326 90438326 + Frame_Shift_Del DEL T T - TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 g.chr10:90438325_90438325AT>A uc001kfg.2 + 9 1198 c.1084_1084AT>A c.(1084-1086)attfs p.I362fs LIPF_uc001kfh.2_Frame_Shift_Del_p.I339fs|LIPF_uc010qmt.2_Frame_Shift_Del_p.I372fs|LIPF_uc010qmu.2_Frame_Shift_Del_p.I329fs NM_004190 NP_004181 P07098 LIPG_HUMAN Homo sapiens lipase, gastric (LIPF), transcript variant 2, mRNA. 362 lipid catabolic process|triglyceride metabolic process extracellular region lipid binding|triglyceride lipase activity NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6) 13 Colorectal(252;0.0161) Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05) CCCCAATCTTATTTACCACAA 0.438 AOC3 8639 broad.mit.edu 37 17 41003597 41003598 + Frame_Shift_Ins INS - - G TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 g.chr17:41003596_41003597T>TG uc002ibv.3 + 0 396_397 c.236_237T>TG c.(235-237)ctgfs p.L79fs NM_003734 NP_003725 Q16853 AOC3_HUMAN Homo sapiens amine oxidase, copper containing 3 (vascular adhesion protein 1) (AOC3), mRNA. 79 amine metabolic process|cell adhesion|inflammatory response cell surface|integral to membrane|plasma membrane aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8) 41 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.156) Hydralazine(DB01275)|Phenelzine(DB00780) ACCCAGCGGCTGGGGCCAGGGC 0.658 BZRAP1 9256 broad.mit.edu 37 17 56386384 56386385 + Frame_Shift_Ins INS - - T TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 g.chr17:56386383_56386384C>CT uc002ivx.4 - 21 5120_5121 c.4249_4250G>AG c.(4249-4251)agcfs p.S1417fs BZRAP1_uc002ivw.3_5'Flank|BZRAP1_uc010dcs.3_Frame_Shift_Ins_p.S1357fs|BZRAP1_uc010wnt.2_Frame_Shift_Ins_p.S1417fs NM_004758 NP_004749 O95153 RIMB1_HUMAN Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA. 1417 mitochondrion benzodiazepine receptor binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) CCGCCTGCGGCTTGGGGGCTTC 0.653 RIPK4 54101 broad.mit.edu 37 21 43165917 43165918 + Splice_Site INS - - A TCGA-HU-A4G6-01A-11D-A24D-08 TCGA-HU-A4G6-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c79ce3d3-4758-4f52-9da1-38f994c99f4e e3e2739f-5f19-4924-8505-3babfd62f636 g.chr21:43165916_43165917T>TA uc002yzn.1 - 6 984 c.936_splice c.e6+1 p.E312_splice NM_020639 NP_065690 Q96T11 Q96T11_HUMAN Homo sapiens receptor-interacting serine-threonine kinase 4 (RIPK4), mRNA. 312 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 AAGGACTCGTTACCTCGCTCCT 0.569