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 validation_method t_ref_count validation_status validation_tumor_sample t_alt_count validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut NLRP12 91662 broad.mit.edu 37 19 54310827 54310827 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr19:54310827C>T uc002qcj.4 - 3 2388 c.2168G>A c.(2167-2169)cGa>cAa p.R723Q NLRP12_uc010eqw.3_5'UTR|NLRP12_uc002qch.4_Missense_Mutation_p.R722Q|NLRP12_uc002qci.4_Missense_Mutation_p.R722Q|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Missense_Mutation_p.R723Q NM_144687 NP_653288 P59046 NAL12_HUMAN Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA. 722 negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of Toll signaling pathway|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding p.R722Q(2) NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 80 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) CAGGGCATTTCGGTACAGAGA 0.582000 39 17 0 0 1 0 0 BCORL1 63035 broad.mit.edu 37 X 129149233 129149233 + Silent SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chrX:129149233C>T uc022cdu.1 + 2 2529 c.2485C>T c.(2485-2487)Ctg>Ttg p.L829L BCORL1_uc010nrd.1_Silent_p.L731L NM_021946 NP_068765 Q5H9F3 BCORL_HUMAN Homo sapiens BCL6 corepressor-like 1 (BCORL1), mRNA. 829 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 75 CACCCAGGTCCTGCCTGTTGG 0.602000 81 26 0 0 1 0 0 STOML3 161003 broad.mit.edu 37 13 39544522 39544522 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr13:39544522G>A uc001uwx.3 - 4 454 c.316C>T c.(316-318)Ctc>Ttc p.L106F STOML3_uc010tez.2_Missense_Mutation_p.L97F NM_145286 NP_660329 Q8TAV4 STML3_HUMAN Homo sapiens stomatin (EPB72)-like 3 (STOML3), transcript variant 1, mRNA. 106 integral to membrane|plasma membrane breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1) 11 Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743) all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137) TCTCTGGTGAGGATCTGTGGA 0.458000 76 25 0 0 1 0 0 CXorf59 286464 broad.mit.edu 37 X 36162748 36162748 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chrX:36162748C>T uc004ddk.1 + 10 1517 c.1331C>T c.(1330-1332)tCa>tTa p.S444L NM_173695 NP_775966 Q8N9S7 CX059_HUMAN Homo sapiens chromosome X open reading frame 59 (CXorf59), mRNA. 444 integral to membrane breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(18)|skin(1)|upper_aerodigestive_tract(2) 34 gatatgccctcagtgtgggtt 0.468000 35 19 0 0 1 0 0 ADCY1 107 broad.mit.edu 37 7 45697426 45697426 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr7:45697426G>A uc003tne.4 + 5 1267 c.1249G>A c.(1249-1251)Gac>Aac p.D417N ADCY1_uc003tnd.3_Missense_Mutation_p.D192N NM_021116 NP_066939 Q08828 ADCY1_HUMAN Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA. 417 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding p.D417D(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 71 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640) GTGGCAGTACGACGTGTGGTC 0.617000 23 8 0 0 1 0 0 WNT9A 7483 broad.mit.edu 37 1 228109337 228109337 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr1:228109337C>T uc001hri.2 - 3 1068 c.980G>A c.(979-981)gGc>gAc p.G327D NM_003395 NP_003386 O14904 WNT9A_HUMAN Homo sapiens wingless-type MMTV integration site family, member 9A (WNT9A), mRNA. 327 Wnt receptor signaling pathway, calcium modulating pathway|anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway extracellular space|plasma membrane|proteinaceous extracellular matrix G-protein-coupled receptor binding|extracellular matrix structural constituent|signal transducer activity p.R326P(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 19 Prostate(94;0.0405) TGTGTTATGGCCGCGGCCACA 0.657000 36 8 0 0 1 0 0 RNF20 56254 broad.mit.edu 37 9 104297796 104297796 + Missense_Mutation SNP A G G TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr9:104297796A>G uc004bbn.3 + 1 181 c.91A>G c.(91-93)Aca>Gca p.T31A NM_019592 NP_062538 Q5VTR2 BRE1A_HUMAN Homo sapiens ring finger protein 20 (RNF20), mRNA. 31 histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process nucleolus|ubiquitin ligase complex histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311) TTCAGGGACCACAGTGGAAAC 0.453000 49 8 0 0 1 0 0 WDHD1 11169 broad.mit.edu 37 14 55448271 55448271 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr14:55448271G>A uc001xbm.2 - 15 2140 c.2050C>T c.(2050-2052)Ccc>Tcc p.P684S WDHD1_uc010aom.2_Missense_Mutation_p.P201S|WDHD1_uc001xbn.2_Missense_Mutation_p.P561S NM_007086 NP_009017 O75717 WDHD1_HUMAN Homo sapiens WD repeat and HMG-box DNA binding protein 1 (WDHD1), transcript variant 1, mRNA. 684 cytoplasm|nucleoplasm DNA binding p.P684S(2) breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2) 42 AGTTGCTGGGGATTTTCATGG 0.368000 65 22 0 0 1 0 0 PLCH1 23007 broad.mit.edu 37 3 155200375 155200375 + Missense_Mutation SNP T C C TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr3:155200375T>C uc021xge.1 - 22 3741 c.3464A>G c.(3463-3465)gAc>gGc p.D1155G PLCH1_uc021xgd.1_3'UTR|PLCH1_uc021xgf.1_Missense_Mutation_p.D1117G NM_001130960 NP_001124432 Q4KWH8 PLCH1_HUMAN Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA. 1155 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) CATGGAGACGTCTGACAAAGA 0.423000 65 25 0 0 1 0 0 SET 6418 broad.mit.edu 37 9 131455163 131455163 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr9:131455163C>T uc004bvt.4 + 4 675 c.434C>T c.(433-435)cCt>cTt p.P145L SET_uc022bol.1_Missense_Mutation_p.P123L|SET_uc004bvu.4_Missense_Mutation_p.P132L|SET_uc011mbj.2_Missense_Mutation_p.P121L NM_001122821 NP_001116293 Q01105 SET_HUMAN Homo sapiens SET nuclear oncogene (SET), transcript variant 1, mRNA. 145 DNA replication|mRNA metabolic process|negative regulation of histone acetylation|negative regulation of neuron apoptosis|negative regulation of transcription, DNA-dependent|nucleocytoplasmic transport|nucleosome assembly|nucleosome disassembly cytosol|endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm|protein complex histone binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity endometrium(2)|kidney(1)|lung(2) 5 Myeloproliferative disorder(178;0.204) GBM - Glioblastoma multiforme(294;3.1e-09) GATGAAAATCCTTACTTTGAA 0.333000 T NUP214 AML 29 4 0 0 1 0 0 NOVA1 4857 broad.mit.edu 37 14 26917263 26917263 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr14:26917263C>T uc001wqa.3 - 5 1846 c.1060G>A c.(1060-1062)Gga>Aga p.G354R NOVA1_uc001wpy.3_Missense_Mutation_p.G476R|NOVA1_uc001wpz.3_Missense_Mutation_p.G452R NM_002515 NP_002506 P51513 NOVA1_HUMAN Homo sapiens neuro-oncological ventral antigen 1 (NOVA1), transcript variant 1, mRNA. 479 Ala-rich. RNA splicing|locomotory behavior|synaptic transmission nucleus RNA binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(265;0.0135) GCTGGTGTTCCAGTAATGGTT 0.448000 49 6 0 0 1 0 0 BBS9 27241 broad.mit.edu 37 7 33388771 33388771 + Missense_Mutation SNP T C C TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr7:33388771T>C uc003tdn.1 + 12 1934 c.1421T>C c.(1420-1422)tTt>tCt p.F474S BBS9_uc003tdo.1_Missense_Mutation_p.F474S|BBS9_uc003tdp.1_Missense_Mutation_p.F474S|BBS9_uc003tdq.1_Missense_Mutation_p.F474S|BBS9_uc010kwn.1_Non-coding_Transcript|BBS9_uc003tdr.1_5'UTR|BBS9_uc003tds.1_5'Flank|BBS9_uc011kao.1_Missense_Mutation_p.F352S NM_198428 NP_940820 Q3SYG4 PTHB1_HUMAN Homo sapiens Bardet-Biedl syndrome 9 (BBS9), transcript variant 2, mRNA. 474 fat cell differentiation|response to stimulus|visual perception BBSome|cilium membrane|microtubule organizing center|nucleus protein binding BBS9/PKD1L1(2) NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(11;0.0894) CAGTTCACCTTTGAATTTATG 0.333000 Bardet-Biedl syndrome 64 22 0 0 1 0 0 CEACAM21 90273 broad.mit.edu 37 19 42083885 42083885 + Missense_Mutation SNP A G G TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr19:42083885A>G uc002ore.4 + 1 494 c.398A>G c.(397-399)cAg>cGg p.Q133R CEACAM21_uc002orc.1_Non-coding_Transcript|CEACAM21_uc002orf.2_Non-coding_Transcript|CEACAM21_uc002org.4_Missense_Mutation_p.Q133R NM_001098506 NP_001091976 Q3KPI0 CEA21_HUMAN Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 21 (CEACAM21), transcript variant 1, mRNA. 133 integral to membrane endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1) 13 CAGATTGAACAGGCATCTCAC 0.507000 64 25 0 0 1 0 0 PKD1 5310 broad.mit.edu 37 16 2162790 2162790 + Splice_Site SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr16:2162790G>A uc002cos.1 - 13 3370 c.3161_splice c.e13+1 p.L1054_splice TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Splice_Site_p.L1054_splice NM_001009944 NP_001009944 P98161 PKD1_HUMAN Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA. 1054 PKD 5. calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 GTCACTCACAGGAAGGCCACC 0.682000 25 6 0 0 1 0 0 GCN1L1 10985 broad.mit.edu 37 12 120600896 120600896 + Silent SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr12:120600896G>A uc001txo.3 - 18 2029 c.2016C>T c.(2014-2016)atC>atT p.I672I NM_006836 NP_006827 Q92616 GCN1L_HUMAN Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA. 672 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GGTGGGAGATGATCAGCATTT 0.607000 54 16 0 0 1 0 0 ASPG 374569 broad.mit.edu 37 14 104570792 104570792 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr14:104570792G>A uc001yop.2 + 7 990 c.905G>A c.(904-906)gGg>gAg p.G302E ASPG_uc001yoo.2_Missense_Mutation_p.G330E|ASPG_uc001yoq.2_Missense_Mutation_p.G302E|ASPG_uc001yor.2_Missense_Mutation_p.G302E NM_001080464 NP_001073933 Q86U10 LPP60_HUMAN Homo sapiens asparaginase homolog (S. cerevisiae) (ASPG), mRNA. 302 Asparaginase. lipid catabolic process 1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 11 TGCCTCCAGGGGGCTGTGACC 0.667000 29 7 0 0 1 0 0 LAMB4 22798 broad.mit.edu 37 7 107720127 107720127 + Silent SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr7:107720127G>A uc010ljo.1 - 14 1890 c.1806C>T c.(1804-1806)ctC>ctT p.L602L LAMB4_uc003vey.2_Silent_p.L602L NM_007356 NP_031382 A4D0S4 LAMB4_HUMAN Homo sapiens laminin, beta 4 (LAMB4), mRNA. 602 Laminin IV type B. cell adhesion basement membrane NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4) 97 CAGCCCCAGGGAGAACCCTGG 0.507000 51 15 0 0 1 0 0 C18orf1 753 broad.mit.edu 37 18 13621218 13621218 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr18:13621218C>T uc002ksa.2 + 4 952 c.284C>T c.(283-285)tCc>tTc p.S95F C18orf1_uc002ksb.2_Missense_Mutation_p.S95F|C18orf1_uc002kse.2_Missense_Mutation_p.S58F|C18orf1_uc002ksf.2_Missense_Mutation_p.S58F|C18orf1_uc002ksg.1_Missense_Mutation_p.S18F|C18orf1_uc002ksh.1_Missense_Mutation_p.S37F|C18orf1_uc002ksi.1_Missense_Mutation_p.S37F NM_181481 NP_852146 O15165 CR001_HUMAN Homo sapiens chromosome 18 open reading frame 1 (C18orf1), transcript variant a1, mRNA. 95 integral to membrane|plasma membrane central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 READ - Rectum adenocarcinoma(73;0.0642) TCCACGCGGTCCTTCATCAAC 0.632000 69 13 0 0 1 0 0 PAX4 5078 broad.mit.edu 37 7 127254563 127254563 + Silent SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr7:127254563G>A uc010lld.1 - 2 591 c.385C>T c.(385-387)Cta>Tta p.L129L PAX4_uc003vmf.2_Silent_p.L127L|PAX4_uc003vmg.1_Silent_p.L129L|PAX4_uc003vmh.3_Silent_p.L127L NM_006193 NP_006184 O43316 PAX4_HUMAN Homo sapiens paired box 4 (PAX4), mRNA. 137 Paired. R -> W (in diabetes mellitus type 2). cell differentiation|endocrine pancreas development|organ morphogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 GTGCACGGTAGTCCCTGGTCC 0.547000 8 3 0 0 1 0 0 PPP1R1B 84152 broad.mit.edu 37 17 37786257 37786257 + Silent SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr17:37786257G>A uc002hrz.3 + 3 667 c.198G>A c.(196-198)tcG>tcA p.S66S PPP1R1B_uc010cvx.3_Intron|PPP1R1B_uc002hsb.3_Silent_p.S30S|PPP1R1B_uc002hsc.3_Silent_p.S30S NM_032192 NP_852606 Q9UD71 PPR1B_HUMAN Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 1B (PPP1R1B), transcript variant 1, mRNA. 66 signal transduction cytosol protein kinase inhibitor activity|protein phosphatase inhibitor activity kidney(1)|large_intestine(1)|liver(1)|lung(2) 5 Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) ATCTCAAGTCGAAGAGACCCA 0.597000 63 17 0 0 1 0 0 ABLIM2 84448 broad.mit.edu 37 4 8009831 8009831 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr4:8009831C>T uc003gko.3 - 14 1614 c.1471G>A c.(1471-1473)Gac>Aac p.D491N ABLIM2_uc003gkk.3_Missense_Mutation_p.D155N|ABLIM2_uc003gkl.3_Missense_Mutation_p.D219N|ABLIM2_uc003gkm.4_Missense_Mutation_p.D439N|ABLIM2_uc003gkp.3_Missense_Mutation_p.D450N|ABLIM2_uc003gkq.3_Missense_Mutation_p.D491N|ABLIM2_uc003gkr.3_Missense_Mutation_p.D440N|ABLIM2_uc003gkj.4_Missense_Mutation_p.D525N|ABLIM2_uc003gks.3_Missense_Mutation_p.D451N NM_001130084 NP_001123556 Q6H8Q1 ABLM2_HUMAN Homo sapiens actin binding LIM protein family, member 2 (ABLIM2), transcript variant 2, mRNA. 491 axon guidance|cytoskeleton organization actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus actin binding|zinc ion binding p.D525N(1) NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1) 25 GGGTCTCTGTCGGTCCCGCTG 0.562000 112 35 0 0 1 0 0 HCLS1 3059 broad.mit.edu 37 3 121351010 121351010 + Missense_Mutation SNP C A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr3:121351010C>A uc003eeh.4 - 12 1387 c.1262G>T c.(1261-1263)gGg>gTg p.G421V HCLS1_uc011bjj.2_Missense_Mutation_p.G384V NM_005335 NP_005326 P14317 HCLS1_HUMAN Homo sapiens hematopoietic cell-specific Lyn substrate 1 (HCLS1), mRNA. 421 erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus mitochondrion|nucleus|plasma membrane DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 GBM - Glioblastoma multiforme(114;0.0912) agccccagccccagccGGGCA 0.542000 65 20 2.89027e-11 2.94289e-11 1 1 0 GPAA1 8733 broad.mit.edu 37 8 145138666 145138667 + Missense_Mutation DNP CC TT TT TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr8:145138666_145138667CC>TT uc003zax.3 + 3 526_527 c.416_417CC>TT c.(415-417)gcc>gTT p.A139V GPAA1_uc003zav.1_Missense_Mutation_p.A17V|GPAA1_uc003zaw.1_Missense_Mutation_p.A79V NM_003801 NP_003792 O43292 GPAA1_HUMAN Homo sapiens glycosylphosphatidylinositol anchor attachment protein 1 homolog (yeast) (GPAA1), mRNA. 139 C-terminal protein lipidation|attachment of GPI anchor to protein|protein complex assembly|protein retention in ER lumen GPI-anchor transamidase complex tubulin binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2) 19 all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CCGCGTGCTGCCAGCACCGAGT 0.653000 43 13 0 0 1 0 0 KCNJ6 3763 broad.mit.edu 37 21 39087323 39087323 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr21:39087323C>T uc011aej.1 - 2 190 c.137G>A c.(136-138)cGa>cAa p.R46Q KCNJ6_uc002ywo.2_Missense_Mutation_p.R46Q NM_002240 NP_002231 P48051 IRK6_HUMAN Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 6 (KCNJ6), mRNA. 46 synaptic transmission Golgi apparatus|voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 22 Halothane(DB01159) GGTCCGATCTCGGCTGATGTG 0.547000 95 31 0 0 1 0 0 IL1RAPL2 26280 broad.mit.edu 37 X 105011435 105011435 + Silent SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chrX:105011435C>T uc004elz.1 + 10 2598 c.1842C>T c.(1840-1842)atC>atT p.I614I NM_017416 NP_059112 Q9NP60 IRPL2_HUMAN Homo sapiens interleukin 1 receptor accessory protein-like 2 (IL1RAPL2), mRNA. 614 central nervous system development|innate immune response integral to membrane interleukin-1, Type II, blocking receptor activity breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 CAATGCAAATCAGGCACTGTT 0.488000 79 24 0 0 1 0 0 DNAJC13 23317 broad.mit.edu 37 3 132241685 132241685 + Missense_Mutation SNP T C C TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr3:132241685T>C uc003eor.3 + 48 5752 c.5687T>C c.(5686-5688)tTa>tCa p.L1896S NM_015268 NP_056083 O75165 DJC13_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 13 (DNAJC13), mRNA. 1896 heat shock protein binding breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1) 34 CGAATTACGTTAATGAAATTT 0.328000 35 8 0 0 1 0 0 KCNH1 3756 broad.mit.edu 37 1 210970866 210970866 + Silent SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr1:210970866C>T uc001hib.2 - 8 2069 c.1899G>A c.(1897-1899)gaG>gaA p.E633E KCNH1_uc001hic.2_Silent_p.E606E NM_172362 NP_758872 O95259 KCNH1_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 1 (KCNH1), transcript variant 1, mRNA. 633 myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) TGGCCACCACCTCATCATCTT 0.557000 67 56 0 0 1 0 0 TRIM69 140691 broad.mit.edu 37 15 45050851 45050851 + Silent SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr15:45050851C>T uc001zuf.2 + 4 1507 c.612C>T c.(610-612)tcC>tcT p.S204S TRIM69_uc001zug.1_Silent_p.S204S|TRIM69_uc001zuh.1_Silent_p.S45S|TRIM69_uc001zui.1_5'UTR|TRIM69_uc010bdy.1_5'UTR NM_182985 NP_892030 Q86WT6 TRI69_HUMAN Homo sapiens tripartite motif containing 69 (TRIM69), transcript variant a, mRNA. 204 apoptosis nuclear speck zinc ion binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1) 20 all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122) all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141) AACATGTGTCCATGGAGTTTC 0.483000 42 16 0 0 1 0 0 SLC47A2 146802 broad.mit.edu 37 17 19611819 19611819 + Splice_Site SNP C A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr17:19611819C>A uc002gwe.4 - 7 707 c.532_splice c.e7-1 p.G178_splice SLC47A2_uc002gwg.4_Intron|SLC47A2_uc002gwf.4_Intron|SLC47A2_uc002gwh.4_Non-coding_Transcript|SLC47A2_uc002gwi.3_Intron|SLC47A2_uc010cqs.1_Intron|SLC47A2_uc010cqt.1_Intron NM_152908 NP_690872 Q86VL8 S47A2_HUMAN Homo sapiens solute carrier family 47, member 2 (SLC47A2), transcript variant 1, mRNA. 178 integral to membrane|plasma membrane drug:hydrogen antiporter activity endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1) 9 all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245) CTTCAGCCATCCCTGTTGAGG 0.567000 175 43 3.76604e-16 3.8446e-16 1 1 0 NNT 23530 broad.mit.edu 37 5 43613102 43613102 + Silent SNP T C C TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr5:43613102T>C uc003joe.3 + 2 499 c.244T>C c.(244-246)Ttg>Ctg p.L82L NNT_uc003jof.3_Silent_p.L82L NM_012343 NP_892022 Q13423 NNTM_HUMAN Homo sapiens nicotinamide nucleotide transhydrogenase (NNT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 82 tricarboxylic acid cycle integral to membrane|mitochondrial respiratory chain NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(6;2.58e-06) NADH(DB00157) TGTTCAGAACTTGGTCAAGCA 0.473000 156 50 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41668001 41668001 + Silent SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr21:41668001G>A uc002yyq.1 - 9 2615 c.2163C>T c.(2161-2163)atC>atT p.I721I DSCAM_uc002yyr.1_Non-coding_Transcript NM_001389 NP_001380 O60469 DSCAM_HUMAN Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA. 721 Ig-like C2-type 8. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) ATTTCCACACGATGGTAGGTA 0.428000 59 12 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179542417 179542417 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr2:179542417C>T uc021vsy.1 - 142 30715 c.30490G>A c.(30490-30492)Gaa>Aaa p.E10164K TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E6825K|TTN_uc010fre.1_Intron|TTN_uc002una.1_Non-coding_Transcript|TTN_uc010frf.1_Non-coding_Transcript NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 11091 Glu-rich. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AATTCTTCTTCCTCAGGTACA 0.448000 80 45 0 0 1 0 0 MED8 112950 broad.mit.edu 37 1 43853204 43853204 + Silent SNP C G G TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr1:43853204C>G uc001cje.1 - 2 288 c.240G>C c.(238-240)gtG>gtC p.V80V SZT2_uc001cjk.2_5'Flank|MED8_uc001cjg.4_Silent_p.V80V|MED8_uc001cjf.4_5'UTR|SZT2_uc001cjh.3_5'Flank|SZT2_uc001cji.1_5'Flank|SZT2_uc009vws.1_5'Flank NM_052877 NP_443109 Q96G25 MED8_HUMAN Homo sapiens mediator complex subunit 8 (MED8), transcript variant 3, mRNA. 80 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex endometrium(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1) 9 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) CTGGAGACAACACCAGAGGAA 0.423000 28 37 0 0 1 0 0 F13B 2165 broad.mit.edu 37 1 197032094 197032094 + Missense_Mutation SNP T C C TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr1:197032094T>C uc001gtt.1 - 1 202 c.158A>G c.(157-159)aAa>aGa p.K53R NM_001994 NP_001985 P05160 F13B_HUMAN Homo sapiens coagulation factor XIII, B polypeptide (F13B), mRNA. 53 Sushi 1. blood coagulation extracellular region breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 66 TGACAATTTTTTGTCTATGCT 0.393000 152 48 0 0 1 0 0 KCNK5 8645 broad.mit.edu 37 6 39159151 39159151 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr6:39159151G>A uc003oon.3 - 4 1379 c.1015C>T c.(1015-1017)Cct>Tct p.P339S NM_003740 NP_003731 O95279 KCNK5_HUMAN Homo sapiens potassium channel, subfamily K, member 5 (KCNK5), mRNA. 339 excretion integral to plasma membrane potassium channel activity|voltage-gated ion channel activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3) 19 ACCAGGGAAGGGGGCAGTGCT 0.652000 64 12 0 0 1 0 0 SLC6A12 6539 broad.mit.edu 37 12 304399 304399 + Nonsense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr12:304399C>T uc001qhz.3 - 13 2085 c.1421G>A c.(1420-1422)tGg>tAg p.W474* SLC6A12_uc001qhy.3_Nonsense_Mutation_p.W30*|SLC6A12_uc001qia.3_Nonsense_Mutation_p.W474*|SLC6A12_uc001qib.3_Nonsense_Mutation_p.W474*|SLC6A12_uc009zdh.2_Nonsense_Mutation_p.W474* NM_003044 NP_003035 P48065 S6A12_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12 (SLC6A12), transcript variant 1, mRNA. 474 cellular nitrogen compound metabolic process|neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 26 all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00227) ACCATACACCCAGCTTATGCA 0.567000 119 34 0 0 1 0 0 NRAS 4893 broad.mit.edu 37 1 115256530 115256530 + Missense_Mutation SNP G T T rs121913254 TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr1:115256530G>T uc009wgu.3 - 2 435 c.181C>A c.(181-183)Caa>Aaa p.Q61K NM_002524 NP_002515 P01111 RASN_HUMAN Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA. 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61K(1229)|p.Q61R(898)|p.Q61L(198)|p.Q61H(123)|p.Q61P(23)|p.Q61E(18)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60>?(2)|p.G60R(1)|p.Q61*(1)|p.Q61_E62>HK(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) TACTCTTCTTGTCCAGCTGTA 0.458000 Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 117 78 2.17451e-35 2.23151e-35 1 1 0 KLKB1 3818 broad.mit.edu 37 4 187172926 187172926 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr4:187172926C>T uc003iyy.3 + 9 1126 c.1055C>T c.(1054-1056)tCt>tTt p.S352F KLKB1_uc011clc.2_Missense_Mutation_p.S150F|KLKB1_uc011cld.2_Missense_Mutation_p.S314F NM_000892 NP_000883 P03952 KLKB1_HUMAN Homo sapiens kallikrein B, plasma (Fletcher factor) 1 (KLKB1), mRNA. 352 Apple 4. Factor XII activation|blood coagulation, intrinsic pathway|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis cytoplasm|extracellular space|plasma membrane serine-type endopeptidase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 40 all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168) TTAAGATTATCTATGGATGGT 0.418000 116 32 0 0 1 0 0 PLCB2 5330 broad.mit.edu 37 15 40599815 40599815 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr15:40599815C>T uc001zld.3 - 0 360 c.59G>A c.(58-60)gGg>gAg p.G20E PLCB2_uc010bbo.3_Missense_Mutation_p.G20E|PLCB2_uc010ucm.2_Missense_Mutation_p.G20E|PLCB2_uc001zle.4_Missense_Mutation_p.G20E NM_004573 NP_004564 Q00722 PLCB2_HUMAN Homo sapiens phospholipase C, beta 2 (PLCB2), mRNA. 20 activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3) 39 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508) GAAGCGCTCCCCTTGGCTCAG 0.607000 32 10 0 0 1 0 0 BCAP31 10134 broad.mit.edu 37 X 152981046 152981046 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chrX:152981046G>A uc004fid.2 - 3 923 c.493C>T c.(493-495)Cgt>Tgt p.R165C BCAP31_uc011myz.1_Missense_Mutation_p.R98C|BCAP31_uc011mza.1_Missense_Mutation_p.R98C|BCAP31_uc004fie.2_Missense_Mutation_p.R98C NM_001139457 NP_005736 P51572 BAP31_HUMAN Homo sapiens B-cell receptor-associated protein 31 (BCAP31), transcript variant 1, mRNA. 98 Cleavage; by caspase-8 (Potential). cellular component disassembly involved in apoptosis|immune response|intracellular protein transport|vesicle-mediated transport ER-Golgi intermediate compartment membrane|cytosol|endoplasmic reticulum membrane|integral to plasma membrane receptor binding endometrium(2)|large_intestine(2)|lung(2)|prostate(1) 7 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CTCTGGGCACGGAAAAGCTTC 0.547000 72 43 0 0 1 0 0 SEC14L2 23541 broad.mit.edu 37 22 30812280 30812280 + Silent SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr22:30812280G>A uc003ahr.3 + 10 1145 c.969G>A c.(967-969)aaG>aaA p.K323K SEC14L2_uc003ahq.3_Silent_p.K323K|SEC14L2_uc011aky.2_Silent_p.K240K|SEC14L2_uc011akx.2_Silent_p.K269K|SEC14L2_uc003ahs.3_Silent_p.K249K|SEC14L2_uc003aht.3_Non-coding_Transcript|SEC14L2_uc003ahu.3_Intron|SEC14L2_uc010gvv.3_Intron|SEC14L2_uc003ahv.1_Silent_p.K147K|SEC14L2_uc010gvx.1_Silent_p.K16K|SEC14L2_uc010gvy.1_Intron NM_012429 NP_036561 O76054 S14L2_HUMAN Homo sapiens SEC14-like 2 (S. cerevisiae) (SEC14L2), transcript variant 1, mRNA. 323 GOLD. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane|nucleus phospholipid binding|transporter activity|vitamin E binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1) 10 Vitamin E(DB00163) TGAAGACCAAGATGGGAGAGA 0.537000 58 11 0 0 1 0 0 SERPINI2 5276 broad.mit.edu 37 3 167170817 167170817 + Nonsense_Mutation SNP T A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr3:167170817T>A uc003fes.1 - 5 972 c.901A>T c.(901-903)Aaa>Taa p.K301* SERPINI2_uc003fer.1_Nonsense_Mutation_p.K291*|SERPINI2_uc003fet.1_Nonsense_Mutation_p.K291* NM_006217 NP_006208 O75830 SPI2_HUMAN Homo sapiens serpin peptidase inhibitor, clade I (pancpin), member 2 (SERPINI2), mRNA. 291 cellular component movement|regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1) 41 TGTTCTACTTTAAATCTGTTA 0.299000 25 6 0 0 1 0 0 CMTM7 112616 broad.mit.edu 37 3 32490966 32490966 + Silent SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr3:32490966C>T uc003cey.1 + 2 590 c.354C>T c.(352-354)atC>atT p.I118I CMTM7_uc003cez.1_Intron NM_138410 NP_612419 Q96FZ5 CKLF7_HUMAN Homo sapiens CKLF-like MARVEL transmembrane domain containing 7 (CMTM7), transcript variant 1, mRNA. 118 MARVEL. chemotaxis extracellular space|integral to membrane cytokine activity endometrium(1)|large_intestine(1)|lung(2) 4 ACTATTTAATCGGTACCCTGC 0.542000 102 26 0 0 1 0 0 ADAMTS7 11173 broad.mit.edu 37 15 79058878 79058878 + Silent SNP C A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr15:79058878C>A uc002bej.4 - 18 3586 c.3375G>T c.(3373-3375)ctG>ctT p.L1125L ADAMTS7_uc010und.1_3'UTR NM_014272 NP_055087 Q9UKP4 ATS7_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA. 1125 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9) 54 ACCAAGGTCCCAGTACCCCCT 0.687000 15 4 0.150653 0.150653 1 1 0 SEC16A 9919 broad.mit.edu 37 9 139371256 139371256 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr9:139371256G>A uc004chx.3 - 2 1121 c.812C>T c.(811-813)cCc>cTc p.P271L SEC16A_uc004chv.4_5'Flank|SEC16A_uc004chw.3_Missense_Mutation_p.P271L|SEC16A_uc010nbn.3_Missense_Mutation_p.P271L|SEC16A_uc010nbo.1_Missense_Mutation_p.P271L NM_014866 NP_055681 O15027 SC16A_HUMAN Homo sapiens SEC16 homolog A (S. cerevisiae) (SEC16A), mRNA. 93 protein transport|vesicle-mediated transport Golgi membrane|endoplasmic reticulum membrane breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Myeloproliferative disorder(178;0.0511) Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06) GGCTGCTGGGGGAGCCACCAG 0.597000 25 6 0 0 1 0 0 CDK5RAP2 55755 broad.mit.edu 37 9 123334274 123334274 + Silent SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr9:123334274G>A uc004bkf.3 - 1 286 c.105C>T c.(103-105)ccC>ccT p.P35P CDK5RAP2_uc004bkg.3_Silent_p.P35P|CDK5RAP2_uc011lxw.2_5'UTR|CDK5RAP2_uc011lxx.2_Non-coding_Transcript|CDK5RAP2_uc011lxy.2_Non-coding_Transcript|CDK5RAP2_uc011lxz.2_5'UTR|CDK5RAP2_uc011lya.2_5'UTR|CDK5RAP2_uc004bkh.1_Silent_p.P35P NM_018249 NP_060719 Q96SN8 CK5P2_HUMAN Homo sapiens CDK5 regulatory subunit associated protein 2 (CDK5RAP2), transcript variant 1, mRNA. 35 G2/M transition of mitotic cell cycle|brain development|centrosome organization|chromosome segregation|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint Golgi apparatus|cytosol|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 58 ACCCAGCATTGGGGTTGATGC 0.448000 43 26 0 0 1 0 0 ADNP2 22850 broad.mit.edu 37 18 77895176 77895176 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr18:77895176C>T uc002lnw.3 + 3 2335 c.1880C>T c.(1879-1881)cCc>cTc p.P627L NM_014913 NP_055728 Q6IQ32 ADNP2_HUMAN Homo sapiens ADNP homeobox 2 (ADNP2), mRNA. 627 cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2) 42 all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2) Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164) CTGCCGGTTCCCCCTGGAGGC 0.617000 45 11 0 0 1 0 0 PNKD 25953 broad.mit.edu 37 2 219204780 219204780 + Silent SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr2:219204780C>T uc002vhn.3 + 3 525 c.381C>T c.(379-381)ctC>ctT p.L127L PNKD_uc002vhq.3_Silent_p.L103L NM_015488 NP_056303 Q8N490 PNKD_HUMAN Homo sapiens paroxysmal nonkinesigenic dyskinesia (PNKD), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 127 membrane|mitochondrion|nucleus hydroxyacylglutathione hydrolase activity|zinc ion binding p.V126V(1) NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2) 10 Renal(207;0.0474) Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TCCCTGTCCTCTCGGACAACT 0.647000 52 18 0 0 1 0 0 PTPRO 5800 broad.mit.edu 37 12 15734639 15734639 + Silent SNP C T T rs139672715 TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr12:15734639C>T uc001rcv.2 + 22 3629 c.3159C>T c.(3157-3159)ttC>ttT p.F1053F PTPRO_uc001rcw.2_Silent_p.F1025F|PTPRO_uc001rcx.2_Silent_p.F242F|PTPRO_uc001rcy.2_Silent_p.F242F|PTPRO_uc001rcz.2_Silent_p.F214F|PTPRO_uc001rda.2_Silent_p.F214F NM_030667 NP_109592 Q16827 PTPRO_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, O (PTPRO), transcript variant 1, mRNA. 1053 Tyrosine-protein phosphatase. integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1) 74 Hepatocellular(102;0.244) ACTGGCCATTCACGGAAGAAC 0.433000 81 19 0 0 1 0 0 ANKRD12 23253 broad.mit.edu 37 18 9258271 9258271 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr18:9258271C>T uc002knv.3 + 8 5270 c.5006C>T c.(5005-5007)cCa>cTa p.P1669L ANKRD12_uc002knw.3_Missense_Mutation_p.P1646L|ANKRD12_uc002knx.3_Missense_Mutation_p.P1646L|ANKRD12_uc010dkx.1_Missense_Mutation_p.P1376L NM_015208 NP_056023 Q6UB98 ANR12_HUMAN Homo sapiens ankyrin repeat domain 12 (ANKRD12), transcript variant 1, mRNA. 1669 nucleus NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2) 65 GAACAAGATCCAAAACATTGT 0.363000 35 14 0 0 1 0 0 CEACAM18 729767 broad.mit.edu 37 19 51984797 51984797 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr19:51984797C>T uc002pwv.1 + 3 734 c.734C>T c.(733-735)tCc>tTc p.S245F NM_001080405 NP_001073874 A8MTB9 CEA18_HUMAN Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 18 (CEACAM18), mRNA. 245 integral to membrane breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1) 17 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) ATGACAATTTCCCCAGACGGC 0.483000 59 8 0 0 1 0 0 ZSCAN4 201516 broad.mit.edu 37 19 58189851 58189851 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr19:58189851G>A uc002qpu.3 + 4 1577 c.880G>A c.(880-882)Gga>Aga p.G294R NM_152677 NP_689890 Q8NAM6 ZSCA4_HUMAN Homo sapiens zinc finger and SCAN domain containing 4 (ZSCAN4), mRNA. 294 telomere maintenance via telomere lengthening|viral reproduction nuclear chromosome, telomeric region DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1) 30 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GAGCAATGAGGGAAATTCCAC 0.473000 82 23 0 0 1 0 0 DMBT1 1755 broad.mit.edu 37 10 124380618 124380618 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr10:124380618G>A uc001lgk.1 + 40 5049 c.4943G>A c.(4942-4944)aGg>aAg p.R1648K DMBT1_uc001lgl.1_Missense_Mutation_p.R1638K|DMBT1_uc001lgm.1_Missense_Mutation_p.R1020K|DMBT1_uc021qaf.1_Missense_Mutation_p.R1648K|DMBT1_uc021qag.1_Missense_Mutation_p.R1638K|DMBT1_uc021qah.1_Missense_Mutation_p.R1020K|DMBT1_uc009xzz.1_Missense_Mutation_p.R1648K|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yab.1_Missense_Mutation_p.R351K|DMBT1_uc009yac.1_5'UTR NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA. 1648 SRCR 13. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) GGAGGTGACAGGTGTCGAGGC 0.532000 279 96 0 0 1 0 0 KSR2 283455 broad.mit.edu 37 12 118198921 118198921 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr12:118198921G>A uc001two.2 - 3 849 c.794C>T c.(793-795)tCc>tTc p.S265F NM_173598 NP_775869 Q6VAB6 KSR2_HUMAN Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA. 294 Pro-rich. intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TTTTCGGGAGGAGGGCGGTGG 0.672000 131 26 0 0 1 0 0 NUB1 51667 broad.mit.edu 37 7 151072975 151072975 + Silent SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr7:151072975C>T uc003wjx.3 + 12 1525 c.1509C>T c.(1507-1509)tcC>tcT p.S503S NUB1_uc003wjw.3_Silent_p.S465S NM_001243351 NP_001230280 Q9Y5A7 NUB1_HUMAN Homo sapiens negative regulator of ubiquitin-like proteins 1 (NUB1), transcript variant 1, mRNA. 479 UBA 3. positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process nucleus protein binding endometrium(1)|large_intestine(7)|lung(3) 11 OV - Ovarian serous cystadenocarcinoma(82;0.00569) UCEC - Uterine corpus endometrioid carcinoma (81;0.172) TAAATGATTCCAATCCTGAAA 0.483000 163 40 0 0 1 0 0 B3GNT3 10331 broad.mit.edu 37 19 17922508 17922508 + Silent SNP C T T rs141805771 TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr19:17922508C>T uc002nhl.1 + 2 843 c.696C>T c.(694-696)caC>caT p.H232H B3GNT3_uc010ebd.1_Silent_p.H232H|B3GNT3_uc010ebe.1_Silent_p.H232H NM_014256 NP_055071 Q9Y2A9 B3GN3_HUMAN Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 (B3GNT3), mRNA. 232 protein glycosylation Golgi membrane|integral to plasma membrane galactosyltransferase activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 21 CTGGCCGCCACCTCTTCGTGG 0.577000 62 26 0 0 1 0 0 GYS2 2998 broad.mit.edu 37 12 21713332 21713332 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr12:21713332C>T uc001rfb.3 - 7 1412 c.1157G>A c.(1156-1158)cGa>cAa p.R386Q NM_021957 NP_068776 P54840 GYS2_HUMAN Homo sapiens glycogen synthase 2 (liver) (GYS2), mRNA. 386 glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction glycogen (starch) synthase activity|protein homodimerization activity p.R386Q(2) NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 CAGCTGTTTTCGCACTGCTTG 0.383000 106 33 0 0 1 0 0 ORAI2 80228 broad.mit.edu 37 7 102087295 102087295 + Silent SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr7:102087295C>T uc010lhz.1 + 3 796 c.561C>T c.(559-561)ggC>ggT p.G187G ORAI2_uc003uzj.2_Silent_p.G187G|ORAI2_uc003uzk.2_Silent_p.G187G|ORAI2_uc011kks.1_Silent_p.G110G NM_001126340 NP_116220 Q96SN7 ORAI2_HUMAN Homo sapiens ORAI calcium release-activated calcium modulator 2 (ORAI2), transcript variant 1, mRNA. 187 integral to membrane protein binding autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 15 CCCCACCTGGCCCTGGGAGTC 0.657000 67 13 0 0 1 0 0 DHX38 9785 broad.mit.edu 37 16 72132628 72132628 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr16:72132628C>T uc002fcb.3 + 4 1056 c.701C>T c.(700-702)tCc>tTc p.S234F DHX38_uc010vmp.2_Intron|DHX38_uc010cgn.1_Non-coding_Transcript NM_014003 NP_054722 Q92620 PRP16_HUMAN Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 38 (DHX38), mRNA. 234 mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription catalytic step 2 spliceosome|nucleoplasm ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 48 Ovarian(137;0.125) GAATCGCCCTCCCCGACGCCT 0.602000 39 8 0 0 1 0 0 CENPJ 55835 broad.mit.edu 37 13 25486139 25486139 + Silent SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr13:25486139G>A uc001upt.4 - 2 766 c.513C>T c.(511-513)ctC>ctT p.L171L CENPJ_uc010tdf.2_Non-coding_Transcript|CENPJ_uc010aaf.3_Non-coding_Transcript NM_018451 NP_060921 Q9HC77 CENPJ_HUMAN Homo sapiens centromere protein J (CENPJ), mRNA. 171 G2/M transition of mitotic cell cycle|cell division|centriole replication|microtubule nucleation|microtubule polymerization centriole|cytosol|gamma-tubulin small complex|microtubule protein domain specific binding|tubulin binding endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139) GTTCTTCCATGAGTCTCTGTA 0.408000 84 24 0 0 1 0 0 RBM7 10179 broad.mit.edu 37 11 114276477 114276477 + Nonsense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr11:114276477C>T uc001pow.3 + 3 407 c.397C>T c.(397-399)Cag>Tag p.Q133* RBM7_uc001pov.3_Nonsense_Mutation_p.Q132*|RBM7_uc001pox.3_Nonsense_Mutation_p.Q12* NM_016090 NP_057174 Q9Y580 RBM7_HUMAN Homo sapiens RNA binding motif protein 7 (RBM7), mRNA. 132 meiosis RNA binding|nucleotide binding|protein binding NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 17 all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104) BRCA - Breast invasive adenocarcinoma(274;2.56e-06)|Epithelial(105;4.17e-05)|all cancers(92;0.000348) ACAGATAATTCAGAGATCTTT 0.318000 50 8 0 0 1 0 0 PIK3AP1 118788 broad.mit.edu 37 10 98388206 98388206 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr10:98388206C>T uc001kmq.3 - 8 1548 c.1420G>A c.(1420-1422)Gat>Aat p.D474N PIK3AP1_uc001kmo.3_Missense_Mutation_p.D73N|PIK3AP1_uc001kmp.3_Missense_Mutation_p.D296N NM_152309 NP_689522 Q6ZUJ8 BCAP_HUMAN Homo sapiens phosphoinositide-3-kinase adaptor protein 1 (PIK3AP1), mRNA. 474 cytoplasm|plasma membrane NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 52 Colorectal(252;0.0442) Epithelial(162;6.29e-08)|all cancers(201;3.18e-06) GAGAAACCATCTCCAGGGATT 0.443000 169 50 0 0 1 0 0 LAMA1 284217 broad.mit.edu 37 18 6956647 6956647 + Silent SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr18:6956647G>A uc002knm.3 - 55 8176 c.8082C>T c.(8080-8082)ccC>ccT p.P2694P LAMA1_uc002knk.3_5'Flank|LAMA1_uc002knl.3_Silent_p.P147P|LAMA1_uc010wzj.2_Silent_p.P2170P NM_005559 NP_005550 P25391 LAMA1_HUMAN Homo sapiens laminin, alpha 1 (LAMA1), mRNA. 2694 axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GAAAAGCCCGGGGCTCTGGCA 0.567000 58 14 0 0 1 0 0 INPPL1 3636 broad.mit.edu 37 11 71948210 71948210 + Silent SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr11:71948210C>T uc001osf.3 + 25 3069 c.2922C>T c.(2920-2922)gcC>gcT p.A974A INPPL1_uc001osg.3_Silent_p.A732A NM_001567 NP_001558 O15357 SHIP2_HUMAN Homo sapiens inositol polyphosphate phosphatase-like 1 (INPPL1), mRNA. 974 Pro-rich. actin filament organization|cell adhesion|endocytosis actin cortical patch|cytosol SH2 domain binding|SH3 domain binding|actin binding breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 GGGTGGCGGCCCCCCCACCCA 0.637000 102 33 0 0 1 0 0 C1QBP 708 broad.mit.edu 37 17 5338248 5338248 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr17:5338248G>A uc002gby.1 - 2 500 c.422C>T c.(421-423)cCa>cTa p.P141L NM_001212 NP_001203 Q07021 C1QBP_HUMAN Homo sapiens complement component 1, q subcomponent binding protein (C1QBP), nuclear gene encoding mitochondrial protein, mRNA. 141 blood coagulation, intrinsic pathway|immune response|interspecies interaction between organisms mitochondrial matrix|nucleus|plasma membrane lung(2)|ovary(1) 3 ATCAAATGTTGGTGGGATGCT 0.453000 69 23 0 0 1 0 0 SEC24D 9871 broad.mit.edu 37 4 119736678 119736678 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr4:119736678G>A uc003ici.4 - 4 873 c.601C>T c.(601-603)Cct>Tct p.P201S SEC24D_uc003icj.4_Missense_Mutation_p.P201S|SEC24D_uc003icl.2_Non-coding_Transcript|SEC24D_uc010imz.1_Non-coding_Transcript|SEC24D_uc011cgg.1_Non-coding_Transcript NM_014822 NP_055637 O94855 SC24D_HUMAN Homo sapiens SEC24 family, member D (S. cerevisiae) (SEC24D), mRNA. 201 Pro-rich. COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm zinc ion binding breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 37 GCATTTGGAGGAGGAGGCCCA 0.597000 61 19 0 0 1 0 0 LRRK1 79705 broad.mit.edu 37 15 101593579 101593579 + Silent SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr15:101593579C>T uc002bwr.3 + 25 4327 c.4008C>T c.(4006-4008)ctC>ctT p.L1336L LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript|LRRK1_uc002bws.3_Non-coding_Transcript NM_024652 NP_078928 Q38SD2 LRRK1_HUMAN Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA. 1336 Protein kinase. small GTPase mediated signal transduction mitochondrion ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1) 72 Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) CCCTGGAGCTCGCGCCGCTCA 0.721000 36 4 0 0 1 0 0 MYO18B 84700 broad.mit.edu 37 22 26219534 26219534 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr22:26219534G>A uc003abz.1 + 12 2834 c.2584G>A c.(2584-2586)Gag>Aag p.E862K MYO18B_uc003aca.1_Missense_Mutation_p.E743K|MYO18B_uc010guy.1_Missense_Mutation_p.E743K|MYO18B_uc010guz.1_Missense_Mutation_p.E743K|MYO18B_uc011aka.1_Missense_Mutation_p.E16K|MYO18B_uc011akb.1_Missense_Mutation_p.E375K NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN Homo sapiens myosin XVIIIB (MYO18B), mRNA. 862 Myosin head-like. nucleus|sarcomere|unconventional myosin complex ATP binding|actin binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 CCTGGGCTGCGAGTATGAGGA 0.582000 131 42 0 0 1 0 0 UGT2B4 7363 broad.mit.edu 37 4 70361387 70361387 + Missense_Mutation SNP C T T rs140509960 TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr4:70361387C>T uc003hek.4 - 0 240 c.193G>A c.(193-195)Gat>Aat p.D65N UGT2B4_uc011cap.2_Intron|UGT2B4_uc003hel.4_Missense_Mutation_p.D65N NM_021139 NP_066962 P06133 UD2B4_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA. 65 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity p.D65N(2) autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 47 CTGTTGGGATCGAAAGAAATG 0.398000 107 40 0 0 1 0 0 C4orf50 389197 broad.mit.edu 37 4 5969157 5969157 + RNA SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr4:5969157C>T uc003git.2 - 4 c.1739G>A Q6ZRC1 CD050_HUMAN Homo sapiens cDNA FLJ46481 fis, clone THYMU3025772. breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1) 15 AAGCTGCCGTCATCTCAGACT 0.527000 78 28 0 0 1 0 0 CNGB3 54714 broad.mit.edu 37 8 87680300 87680300 + Nonsense_Mutation SNP A C C TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr8:87680300A>C uc003ydx.3 - 4 638 c.590T>G c.(589-591)tTa>tGa p.L197* CNGB3_uc010maj.3_Nonsense_Mutation_p.L59* NM_019098 NP_061971 Q9NQW8 CNGB3_HUMAN Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA. 197 signal transduction|visual perception integral to membrane cGMP binding NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 80 GTACTCTGTTAAAGGCATCTT 0.413000 121 82 0 0 1 0 0 PDLIM4 8572 broad.mit.edu 37 5 131607149 131607149 + Silent SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr5:131607149C>T uc003kwo.3 + 4 737 c.660C>T c.(658-660)gcC>gcT p.A220A BC030525_uc003kwm.4_Intron|PDLIM4_uc003kwn.3_Silent_p.A220A|PDLIM4_uc003kwp.3_Silent_p.A220A NM_003687 NP_003678 P50479 PDLI4_HUMAN Homo sapiens PDZ and LIM domain 4 (PDLIM4), transcript variant 1, mRNA. 220 protein binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|urinary_tract(1) 10 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TGCTAGAGGCCGGCGAGGGCG 0.692000 25 11 0 0 1 0 0 ABAT 18 broad.mit.edu 37 16 8839939 8839939 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr16:8839939C>T uc002czc.4 + 2 318 c.152C>T c.(151-153)cCa>cTa p.P51L ABAT_uc002czd.4_Missense_Mutation_p.P51L|ABAT_uc010buh.3_Intron|ABAT_uc010bui.3_Missense_Mutation_p.P51L NM_020686 NP_065737 P80404 GABT_HUMAN Homo sapiens 4-aminobutyrate aminotransferase (ABAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 51 behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion 4-aminobutyrate transaminase complex|mitochondrial matrix (S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2) 26 Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080) ACGGAAGTCCCAGGGCCTAGA 0.483000 38 13 0 0 1 0 0 BRD4 23476 broad.mit.edu 37 19 15376337 15376337 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr19:15376337G>A uc002nar.3 - 4 899 c.677C>T c.(676-678)cCt>cTt p.P226L BRD4_uc002nas.3_Missense_Mutation_p.P226L|BRD4_uc002nat.3_Missense_Mutation_p.P226L|BRD4_uc002nau.4_Missense_Mutation_p.P226L NM_058243 NP_490597 O60885 BRD4_HUMAN Homo sapiens bromodomain containing 4 (BRD4), transcript variant long, mRNA. 226 interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle condensed nuclear chromosome|cytoplasm protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18) GGTGACGGCAGGGAAGGGGTG 0.657000 T C15orf55 lethal midline carcinoma of young people 122 32 0 0 1 0 0 XIST 7503 broad.mit.edu 37 X 73066348 73066348 + RNA SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chrX:73066348G>A uc004ebm.1 - 0 c.6241C>T Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA. ATTGCAAAAGGGGTCGGAGAG 0.453000 83 34 0 0 1 0 0 MLL3 58508 broad.mit.edu 37 7 152007158 152007158 + Missense_Mutation SNP T A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr7:152007158T>A uc003wla.3 - 5 961 c.742A>T c.(742-744)Act>Tct p.T248S NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA. 248 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15) 365 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) GCCCAACAAGTGCCTAAAATG 0.373000 N medulloblastoma 34 7 0 0 1 0 0 THBS1 7057 broad.mit.edu 37 15 39880262 39880262 + Nonsense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr15:39880262G>A uc001zkh.3 + 8 1493 c.1314G>A c.(1312-1314)tgG>tgA p.W438* THBS1_uc010bbi.3_5'Flank NM_003246 NP_003237 P07996 TSP1_HUMAN Homo sapiens thrombospondin 1 (THBS1), mRNA. 438 TSP type-1 2. activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of cGMP-mediated signaling|negative regulation of caspase activity|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223) GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105) Becaplermin(DB00102) ATGGTGGCTGGAGCCACTGGT 0.522000 82 20 0 0 1 0 0 TMED3 23423 broad.mit.edu 37 15 79614547 79614547 + Silent SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr15:79614547C>T uc002beu.3 + 2 746 c.645C>T c.(643-645)gtC>gtT p.V215V TMED3_uc010unj.1_Intron|TMED3_uc002bev.3_Non-coding_Transcript NM_007364 NP_031390 Q9Y3Q3 TMED3_HUMAN Homo sapiens transmembrane emp24 protein transport domain containing 3 (TMED3), mRNA. 215 protein transport ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane large_intestine(3)|lung(4)|ovary(1)|skin(1) 9 GCAGGGCAGTCCACTCCTAGC 0.607000 76 14 0 0 1 0 0 BEST3 144453 broad.mit.edu 37 12 70048755 70048755 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr12:70048755C>T uc001svg.3 - 9 2166 c.1939G>A c.(1939-1941)Gaa>Aaa p.E647K BEST3_uc001svd.2_Intron|BEST3_uc001svf.3_Missense_Mutation_p.E434K|BEST3_uc010stm.2_Missense_Mutation_p.E541K NM_032735 NP_116124 Q8N1M1 BEST3_HUMAN Homo sapiens bestrophin 3 (BEST3), transcript variant 1, mRNA. 647 chloride channel complex|plasma membrane chloride channel activity cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2) 12 Breast(13;2.31e-06)|Esophageal squamous(21;0.187) Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694) TCCAGGTTTTCCATTAAATAC 0.448000 41 8 0 0 1 0 0 TNR 7143 broad.mit.edu 37 1 175365849 175365849 + Silent SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr1:175365849G>A uc001gkp.1 - 2 1152 c.1071C>T c.(1069-1071)atC>atT p.I357I TNR_uc009wwu.1_Silent_p.I357I|TNR_uc010pmz.1_Intron NM_003285 NP_003276 Q92752 TENR_HUMAN Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA. 357 Fibronectin type-III 1. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) GCTGGTAAGAGATCACATATT 0.622000 55 47 0 0 1 0 0 OR8B3 390271 broad.mit.edu 37 11 124266338 124266338 + Silent SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr11:124266338G>A uc010saj.2 - 0 910 c.910C>T c.(910-912)Ctg>Ttg p.L304L OR8B2_uc001qab.3_Intron NM_001005467 NP_001005467 Q8NGG8 OR8B3_HUMAN Homo sapiens olfactory receptor, family 8, subfamily B, member 3 (OR8B3), mRNA. 304 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 14 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) ATTTTAATCAGAGCTTTCCTC 0.328000 92 25 0 0 1 0 0 ATF7IP2 80063 broad.mit.edu 37 16 10551263 10551263 + Missense_Mutation SNP A G G TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr16:10551263A>G uc002czw.3 + 5 1388 c.1229A>G c.(1228-1230)aAt>aGt p.N410S ATF7IP2_uc010uyp.2_Intron|ATF7IP2_uc002czu.3_Missense_Mutation_p.N410S|ATF7IP2_uc002czv.3_Missense_Mutation_p.N410S|ATF7IP2_uc010uyo.2_Intron|ATF7IP2_uc010uyq.2_Intron NM_024997 NP_079273 Q5U623 MCAF2_HUMAN Homo sapiens activating transcription factor 7 interacting protein 2 (ATF7IP2), transcript variant 1, mRNA. 410 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus large_intestine(3) 3 TTGGATAAGAATCTTGAGTCA 0.318000 83 33 0 0 1 0 0 PLEKHG6 55200 broad.mit.edu 37 12 6421437 6421437 + Silent SNP C T T rs146528945 byFrequency TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr12:6421437C>T uc001qnr.3 + 1 193 c.45C>T c.(43-45)ctC>ctT p.L15L PLEKHG6_uc001qns.3_Silent_p.L15L|PLEKHG6_uc010sew.2_Silent_p.L15L|PLEKHG6_uc010sex.2_5'Flank NM_018173 NP_060643 Q3KR16 PKHG6_HUMAN Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 6 (PLEKHG6), transcript variant 1, mRNA. 15 regulation of Rho protein signal transduction cleavage furrow|cytoplasm|spindle pole GTPase activator activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4) 23 TCCAAGGACTCGTGGCCTCCC 0.587000 76 20 0 0 1 0 0 KAZALD1 81621 broad.mit.edu 37 10 102822604 102822604 + Silent SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr10:102822604C>T uc001ksr.3 + 1 1180 c.255C>T c.(253-255)ctC>ctT p.L85L KAZALD1_uc001kss.4_Non-coding_Transcript|KAZALD1_uc001kst.1_Silent_p.L85L NM_030929 NP_112191 Q96I82 KAZD1_HUMAN Homo sapiens Kazal-type serine peptidase inhibitor domain 1 (KAZALD1), mRNA. 85 IGFBP N-terminal. cell differentiation|multicellular organismal development|ossification|regulation of cell growth insulin-like growth factor binding endometrium(1)|ovary(1)|prostate(2) 4 Epithelial(162;6.21e-09)|all cancers(201;3.14e-07) GCGCCAACCTCGAGGGCCAGC 0.736000 23 8 0 0 1 0 0 IL1A 3552 broad.mit.edu 37 2 113537239 113537239 + Silent SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr2:113537239G>A uc002tig.3 - 4 1284 c.324C>T c.(322-324)atC>atT p.I108I NM_000575 NP_000566 P01583 IL1A_HUMAN Homo sapiens interleukin 1, alpha (IL1A), mRNA. 108 anti-apoptosis|apoptosis|cell proliferation|cellular response to heat|cytokine-mediated signaling pathway|fever generation|immune response|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation vascular endothelial growth factor production|response to copper ion cytosol|extracellular space copper ion binding|cytokine activity|interleukin-1 receptor binding p.E107E(1) breast(2)|large_intestine(1)|lung(9) 12 TAGGCTTGATGATTTCTAAAA 0.388000 86 22 0 0 1 0 0 MYH6 4624 broad.mit.edu 37 14 23874460 23874460 + Silent SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr14:23874460G>A uc001wjv.3 - 4 545 c.474C>T c.(472-474)tcC>tcT p.S158S MYH6_uc010akp.2_Silent_p.S158S NM_002471 NP_002462 P13533 MYH6_HUMAN Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA. 158 Myosin head-like. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) AGGCGTTGTCGGAGATGGAGA 0.622000 129 59 0 0 1 0 0 GYS2 2998 broad.mit.edu 37 12 21712622 21712622 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr12:21712622C>T uc001rfb.3 - 8 1447 c.1192G>A c.(1192-1194)Gaa>Aaa p.E398K NM_021957 NP_068776 P54840 GYS2_HUMAN Homo sapiens glycogen synthase 2 (liver) (GYS2), mRNA. 398 glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction glycogen (starch) synthase activity|protein homodimerization activity p.K397N(1) NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 CCAAACTTTTCCTTCACAGAA 0.294000 25 7 0 0 1 0 0 RASGRF1 5923 broad.mit.edu 37 15 79312443 79312443 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr15:79312443C>T uc002beq.3 - 10 1921 c.1546G>A c.(1546-1548)Gga>Aga p.G516R RASGRF1_uc002bep.3_Missense_Mutation_p.G516R|RASGRF1_uc010blm.1_Missense_Mutation_p.G438R|RASGRF1_uc002ber.4_Missense_Mutation_p.G516R|RASGRF1_uc010unh.1_5'Flank NM_002891 NP_002882 Q13972 RGRF1_HUMAN Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 1 (RASGRF1), transcript variant 1, mRNA. 516 PH 2. activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 GATATGACTCCATTCTGAAAA 0.502000 84 23 0 0 1 0 0 USP7 7874 broad.mit.edu 37 16 8994415 8994415 + Missense_Mutation SNP T A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr16:8994415T>A uc002czl.2 - 20 2480 c.2281A>T c.(2281-2283)Atg>Ttg p.M761L USP7_uc010uyk.1_Missense_Mutation_p.M662L|USP7_uc010uyj.1_Missense_Mutation_p.M662L|USP7_uc002czk.2_Missense_Mutation_p.M745L NM_003470 NP_003461 Q93009 UBP7_HUMAN Homo sapiens ubiquitin specific peptidase 7 (herpes virus-associated) (USP7), mRNA. 761 Interaction with ICP0/VMW110. interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process PML body|cytoplasm cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 48 TCACCATCCATTAGTTCATCA 0.323000 69 7 0 0 1 0 0 LECT2 3950 broad.mit.edu 37 5 135286927 135286927 + Nonsense_Mutation SNP G A A rs138618187 TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr5:135286927G>A uc003lbe.1 - 2 475 c.274C>T c.(274-276)Cga>Tga p.R92* FBXL21_uc003lbc.3_Non-coding_Transcript NM_002302 NP_002293 O14960 LECT2_HUMAN Homo sapiens leukocyte cell-derived chemotaxin 2 (LECT2), mRNA. 92 chemotaxis|skeletal system development cytoplasm|extracellular space large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) CCAGATATTCGAACACCATTA 0.443000 39 17 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141758083 141758083 + Silent SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr7:141758083G>A uc003vwy.3 + 30 3828 c.3774G>A c.(3772-3774)gaG>gaA p.E1258E NM_004668 NP_004659 O43451 MGA_HUMAN Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA. 1258 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) ATGACTCTGAGATCGCCAGCT 0.488000 208 60 0 0 1 0 0 ICK 22858 broad.mit.edu 37 6 52905945 52905945 + Silent SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr6:52905945G>A uc003pbh.2 - 2 580 c.90C>T c.(88-90)atC>atT p.I30I ICK_uc003pbi.2_Silent_p.I30I|ICK_uc003pbj.3_Silent_p.I30I NM_016513 NP_057597 Q9UPZ9 ICK_HUMAN Homo sapiens intestinal cell (MAK-like) kinase (ICK), transcript variant 2, mRNA. 30 Protein kinase. intracellular protein kinase cascade|multicellular organismal development cytosol|nucleus ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1) 31 Lung NSC(77;0.103) TTTTAATAGCGATCAGCTCCC 0.473000 105 38 0 0 1 0 0 PCDHB1 29930 broad.mit.edu 37 5 140432091 140432091 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr5:140432091G>A uc003lik.1 + 0 1113 c.1036G>A c.(1036-1038)Gaa>Aaa p.E346K NM_013340 NP_037472 Q9Y5F3 PCDB1_HUMAN Homo sapiens protocadherin beta 1 (PCDHB1), mRNA. 346 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 53 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CAATCCTCCCGAAGTGATGGT 0.517000 79 37 0 0 1 0 0 C1orf65 164127 broad.mit.edu 37 1 223567300 223567300 + Silent SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr1:223567300C>T uc001hoa.2 + 0 586 c.483C>T c.(481-483)ttC>ttT p.F161F NM_152610 NP_689823 Q8N715 CA065_HUMAN Homo sapiens chromosome 1 open reading frame 65 (C1orf65), mRNA. 161 breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3) 29 GBM - Glioblastoma multiforme(131;0.0704) GTGGCACATTCAGGGTAGAAA 0.667000 11 13 0 0 1 0 0 LMO3 55885 broad.mit.edu 37 12 16713473 16713473 + Splice_Site SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr12:16713473C>T uc010shz.2 - 5 498 c.273_splice c.e5-1 p.W91_splice LMO3_uc001rdj.2_Splice_Site_p.R80_splice|LMO3_uc010shy.2_Splice_Site_p.R87_splice|LMO3_uc001rdk.2_Splice_Site_p.R69_splice|LMO3_uc001rdl.2_Splice_Site_p.R69_splice|LMO3_uc009zii.2_Splice_Site|LMO3_uc001rdn.2_Splice_Site_p.R69_splice|LMO3_uc001rdm.2_Splice_Site_p.R69_splice|LMO3_uc009zij.2_Splice_Site|LMO3_uc001rdo.2_Splice_Site|LMO3_uc001rdp.2_Splice_Site|LMO3_uc009zik.2_Splice_Site NM_001243613 NP_001230542 Q8TAP4 LMO3_HUMAN Homo sapiens LIM domain only 3 (rhombotin-like 2) (LMO3), transcript variant 7, mRNA. 69 LIM zinc-binding 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent zinc ion binding endometrium(2)|large_intestine(2)|skin(1) 5 Hepatocellular(102;0.244) ACCAAAGAGCCTAGAATAAGA 0.408000 30 10 0 0 1 0 0 C10orf129 142827 broad.mit.edu 37 10 96971721 96971721 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr10:96971721G>A uc001kke.3 + 5 967 c.842G>A c.(841-843)gGa>gAa p.G281E C10orf129_uc009xuu.1_Missense_Mutation_p.G191E NM_207321 NP_997204 Q6P461 ACSM6_HUMAN Homo sapiens chromosome 10 open reading frame 129 (C10orf129), mRNA. 281 fatty acid metabolic process mitochondrion ATP binding|GTP binding|butyrate-CoA ligase activity|metal ion binding breast(1)|kidney(2)|lung(1)|pancreas(1)|prostate(1)|skin(1) 7 Colorectal(252;0.083) Epithelial(162;1.64e-06)|all cancers(201;3.71e-05) GCTGTCTTGGGAACTTGGTTC 0.483000 60 18 0 0 1 0 0 CD1B 910 broad.mit.edu 37 1 158299161 158299162 + Splice_Site DNP CC TT TT TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr1:158299161_158299162CC>TT uc001frx.3 - 4 994 c.886_splice c.e4+1 p.R296_splice CD1B_uc001frw.3_Intron NM_001764 NP_001755 P29016 CD1B_HUMAN Homo sapiens CD1b molecule (CD1B), mRNA. 296 antigen processing and presentation|immune response endosome membrane|integral to membrane|lysosomal membrane|plasma membrane protein binding p.W295L(1) breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 30 all_hematologic(112;0.0378) ATTTCTTACTCCAGTAGAGGAT 0.554000 52 15 0 0 1 0 0 FRAS1 80144 broad.mit.edu 37 4 79366792 79366792 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr4:79366792C>T uc003hlb.2 + 41 6222 c.5782C>T c.(5782-5784)Cat>Tat p.H1928Y FRAS1_uc003hkw.3_Missense_Mutation_p.H1928Y|FRAS1_uc010ijj.2_Missense_Mutation_p.H348Y NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA. 1927 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 TGAGCCAACCCATGATATTTT 0.388000 188 41 0 0 1 0 0 NCAPD3 23310 broad.mit.edu 37 11 134047120 134047120 + Silent SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr11:134047120G>A uc001qhd.1 - 22 3621 c.3015C>T c.(3013-3015)ctC>ctT p.L1005L NCAPD3_uc010scm.1_Non-coding_Transcript|NCAPD3_uc009zda.1_Non-coding_Transcript NM_015261 NP_056076 P42695 CNDD3_HUMAN Homo sapiens non-SMC condensin II complex, subunit D3 (NCAPD3), mRNA. 1005 cell division|mitotic chromosome condensation nuclear centromeric heterochromatin|nuclear condensin complex methylated histone residue binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_hematologic(175;0.127) all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227) GCACCTGCAAGAGATTGGTAA 0.458000 57 21 0 0 1 0 0 CEP135 9662 broad.mit.edu 37 4 56890672 56890672 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr4:56890672G>A uc003hbi.3 + 24 3560 c.3326G>A c.(3325-3327)cGa>cAa p.R1109Q CEP135_uc003hbj.3_Missense_Mutation_p.R815Q NM_025009 NP_079285 Q66GS9 CP135_HUMAN Homo sapiens centrosomal protein 135kDa (CEP135), mRNA. 1109 G2/M transition of mitotic cell cycle|centriole replication|centriole-centriole cohesion centriole|cytosol protein C-terminus binding p.R1109L(2) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 50 Glioma(25;0.08)|all_neural(26;0.101) AACAGAGAACGAGCAATCCAA 0.378000 199 57 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141232749 141232749 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr2:141232749G>A uc002tvj.1 - 59 10555 c.9583C>T c.(9583-9585)Cac>Tac p.H3195Y NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA. 3195 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) AATTCAATGTGATTTTCATCG 0.338000 TSP Lung(27;0.18) 71 27 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38810498 38810498 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr6:38810498G>A uc021yzh.1 + 34 4773 c.4664G>A c.(4663-4665)aGa>aAa p.R1555K DNAH8_uc003ooe.2_Missense_Mutation_p.R1338K NM_001206927 NP_001193856 Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA. NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 CTCAAAAAGAGAATTGATGAT 0.378000 73 30 0 0 1 0 0 AV4S1 0 broad.mit.edu 37 14 22671075 22671075 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr14:22671075C>T uc021rpv.1 + 1 130 c.95C>T c.(94-96)aCt>aTt p.T32I TCRA_uc001wbw.2_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc001wdd.2_Intron|TCRA_uc010ajj.1_Intron|TCRA_uc001wde.1_Intron|TCRA_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajl.1_Intron|AV4S1_uc010ajm.2_Intron Homo sapiens mRNA for T cell receptor alpha variable 26, partial cds, clone: SEB 320. ATCAGTGGAACTGATTACATA 0.463000 54 12 0 0 1 0 0 GLRA1 2741 broad.mit.edu 37 5 151271999 151271999 + Splice_Site SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr5:151271999G>A uc003lut.3 - 2 344 c.57_splice c.e2-1 p.S19_splice GLRA1_uc003lur.3_Splice_Site_p.S19_splice|GLRA1_uc003lus.3_Intron NM_001146040 NP_001139512 P23415 GLRA1_HUMAN Homo sapiens glycine receptor, alpha 1 (GLRA1), transcript variant 1, mRNA. 19 muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 23 all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912) Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) AAGCAGCAAGGCTAAGGAGGA 0.512000 42 10 0 0 1 0 0 ATP6AP1L 92270 broad.mit.edu 37 5 81608652 81608652 + Silent SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr5:81608652C>T uc003khv.3 + 8 1679 c.354C>T c.(352-354)gtC>gtT p.V118V ATP6AP1L_uc003khw.3_Silent_p.V118V NM_001017971 NP_001017971 Q52LC2 VAS1L_HUMAN Homo sapiens ATPase, H+ transporting, lysosomal accessory protein 1-like (ATP6AP1L), mRNA. 118 ATP hydrolysis coupled proton transport integral to membrane|proton-transporting V-type ATPase, V1 domain hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1) 12 TGTGGGAGGTCACTTTTATTG 0.507000 OREG0016689 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 58 21 0 0 1 0 0 BEST2 54831 broad.mit.edu 37 19 12866708 12866708 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr19:12866708G>A uc002mux.3 + 6 907 c.907G>A c.(907-909)Gat>Aat p.D303N NM_017682 NP_060152 Q8NFU1 BEST2_HUMAN Homo sapiens bestrophin 2 (BEST2), mRNA. 303 membrane depolarization|sensory perception of smell chloride channel complex|cilium|plasma membrane chloride channel activity breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1) 12 AGAGGACGATGATGACTTTGA 0.557000 65 26 0 0 1 0 0 ALK 238 broad.mit.edu 37 2 29519898 29519898 + Missense_Mutation SNP C A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr2:29519898C>A uc002rmy.3 - 8 2625 c.1673G>T c.(1672-1674)gGa>gTa p.G558V NM_004304 NP_004295 Q9UM73 ALK_HUMAN Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA. 558 MAM 2. protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity p.R557C(1) ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9) NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2) 340 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) CCTCAAGACTCCACGAATGAG 0.537000 """T, Mis, A""" """NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22""" """ALCL, NSCLC, Neuroblastoma""" neuroblastoma Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 60 15 1.15088e-07 1.16426e-07 1 1 0 ZNF682 91120 broad.mit.edu 37 19 20117516 20117516 + Silent SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr19:20117516G>A uc002noq.3 - 3 918 c.795C>T c.(793-795)gcC>gcT p.A265A ZNF682_uc002noo.3_Silent_p.A233A|ZNF682_uc002nop.3_Silent_p.A233A|ZNF682_uc010eck.3_Silent_p.A189A NM_033196 NP_001070817 O95780 ZN682_HUMAN Homo sapiens zinc finger protein 682 (ZNF682), transcript variant 1, mRNA. 265 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1) 14 ACCAGTGAAAGGCTTTTCCAC 0.408000 82 22 0 0 1 0 0 NAALAD2 10003 broad.mit.edu 37 11 89885593 89885593 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr11:89885593G>A uc001pdf.4 + 5 846 c.737G>A c.(736-738)gGa>gAa p.G246E NAALAD2_uc009yvx.3_Missense_Mutation_p.G246E|NAALAD2_uc009yvy.3_Missense_Mutation_p.G246E|NAALAD2_uc001pdd.2_Missense_Mutation_p.G246E|NAALAD2_uc001pde.3_Missense_Mutation_p.G246E NM_005467 NP_005458 Q9Y3Q0 NALD2_HUMAN Homo sapiens N-acetylated alpha-linked acidic dipeptidase 2 (NAALAD2), mRNA. 246 proteolysis integral to membrane carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2) 59 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556) GCCCAGAGAGGAAATGTGTTA 0.453000 50 14 0 0 1 0 0 MALT1 10892 broad.mit.edu 37 18 56390483 56390484 + Splice_Site DNP GG AT AT TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr18:56390483_56390484GG>AT uc002lhm.1 + 10 1480 c.1222_splice c.e10+1 p.G408_splice MALT1_uc002lhn.1_Splice_Site_p.G397_splice NM_006785 NP_006776 Q9UDY8 MALT1_HUMAN Homo sapiens mucosa associated lymphoid tissue lymphoma translocation gene 1 (MALT1), transcript variant 1, mRNA. 408 Caspase-like. T cell receptor signaling pathway|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|positive regulation of interleukin-2 production|positive regulation of phosphorylation|positive regulation of protein ubiquitination|protein oligomerization|proteolysis CBM complex|cytosol|nucleus|perinuclear region of cytoplasm cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1) 12 GGGAGTATATGGTAAGATATTT 0.307000 T BIRC3 MALT 39 7 0 0 1 0 0 SLC2A9 56606 broad.mit.edu 37 4 9943610 9943610 + Silent SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr4:9943610C>T uc003gmc.3 - 5 802 c.741G>A c.(739-741)ctG>ctA p.L247L SLC2A9_uc003gmd.3_Silent_p.L218L NM_020041 NP_064425 Q9NRM0 GTR9_HUMAN Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 9 (SLC2A9), transcript variant 1, mRNA. 247 glucose transport|urate metabolic process integral to membrane|plasma membrane sugar:hydrogen symporter activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1) 35 AGGGAAGGCTCAGCAGCTGGA 0.582000 27 12 0 0 1 0 0 ZBTB44 29068 broad.mit.edu 37 11 130108498 130108498 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr11:130108498C>T uc001qga.3 - 3 1502 c.1108G>A c.(1108-1110)Gaa>Aaa p.E370K ZBTB44_uc001qgb.4_Missense_Mutation_p.E370K|ZBTB44_uc001qfx.3_Non-coding_Transcript|ZBTB44_uc001qfz.3_Missense_Mutation_p.E370K NM_014155 NP_054874 Q8NCP5 ZBT44_HUMAN Homo sapiens zinc finger and BTB domain containing 44 (ZBTB44), mRNA. 370 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2) 15 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235) TGAACATTTTCCAATCTAAAA 0.393000 28 5 0 0 1 0 0 BCLAF1 9774 broad.mit.edu 37 6 136597327 136597327 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr6:136597327C>T uc003qgx.1 - 4 1589 c.1336G>A c.(1336-1338)Ggc>Agc p.G446S BCLAF1_uc003qgy.1_Missense_Mutation_p.G444S|BCLAF1_uc011edc.1_Intron|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.G444S|BCLAF1_uc003qgw.1_Intron NM_014739 NP_055554 Q9NYF8 BCLF1_HUMAN Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA. 446 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) TCTCTATTGCCTTTCAGTGAA 0.393000 206 10 0 0 1 0 0 SLITRK4 139065 broad.mit.edu 37 X 142716798 142716798 + Silent SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chrX:142716798G>A uc022cfm.1 - 0 2127 c.2127C>T c.(2125-2127)ttC>ttT p.F709F SLITRK4_uc022cfl.1_Silent_p.F709F|SLITRK4_uc004fbx.3_Silent_p.F709F|SLITRK4_uc004fby.3_Silent_p.F709F NM_173078 NP_775101 Q8IW52 SLIK4_HUMAN Homo sapiens SLIT and NTRK-like family, member 4 (SLITRK4), transcript variant 2, mRNA. 709 integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 60 Acute lymphoblastic leukemia(192;6.56e-05) CTGAAAACATGAACCCAGTTT 0.408000 87 42 0 0 1 0 0 AGAP2 116986 broad.mit.edu 37 12 58121520 58121520 + Missense_Mutation SNP A T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr12:58121520A>T uc001spq.3 - 15 2801 c.2801T>A c.(2800-2802)aTc>aAc p.I934N AGAP2_uc001spp.3_Missense_Mutation_p.I933N|AGAP2_uc001spr.3_Missense_Mutation_p.I578N|LOC100130776_uc001sps.4_Missense_Mutation_p.M249L NM_001122772 NP_001116244 Q99490 AGAP2_HUMAN Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 (AGAP2), transcript variant 1, mRNA. 934 Arf-GAP. axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction mitochondrion|nucleolus ARF GTPase activator activity|GTP binding|zinc ion binding breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1) 48 GATCGCCTGGATGGCCACGGC 0.627000 26 3 0 0 1 0 0 KAT2B 8850 broad.mit.edu 37 3 20141445 20141445 + Splice_Site SNP A T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr3:20141445A>T uc003cbq.3 + 4 1115 c.669_splice c.e4+1 p.Q223_splice NM_003884 NP_003875 Q92831 KAT2B_HUMAN Homo sapiens K(lysine) acetyltransferase 2B (KAT2B), mRNA. 223 N-terminal peptidyl-lysine acetylation|cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter Ada2/Gcn5/Ada3 transcription activator complex|PCAF complex|chromatin remodeling complex cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 40 AGCATTGAACaggtaaaaaga 0.378000 44 10 0 0 1 0 0 ZNF546 339327 broad.mit.edu 37 19 40519997 40519997 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr19:40519997G>A uc002oms.2 + 6 1076 c.820G>A c.(820-822)Gaa>Aaa p.E274K ZNF546_uc002omt.2_Missense_Mutation_p.E248K NM_178544 NP_848639 Q86UE3 ZN546_HUMAN Homo sapiens zinc finger protein 546 (ZNF546), mRNA. 274 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3) 34 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) GAGACCCTATGAATGTAAAGA 0.438000 118 36 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34401533 34401533 + Silent SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr1:34401533C>T uc001bxm.1 - 3 717 c.540G>A c.(538-540)ggG>ggA p.G180G CSMD2_uc001bxn.1_Silent_p.G140G NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA. 140 Sushi 1. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) TCCCTGGGTTCCCACATGTGT 0.597000 57 17 0 0 1 0 0 TNS4 84951 broad.mit.edu 37 17 38643619 38643619 + Silent SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr17:38643619G>A uc010cxb.3 - 3 1121 c.957C>T c.(955-957)agC>agT p.S319S NM_032865 NP_116254 Q8IZW8 TENS4_HUMAN Homo sapiens tensin 4 (TNS4), mRNA. 319 Ser-rich. apoptosis|protein localization cytoplasm|cytoskeleton|focal adhesion actin binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 30 Breast(137;0.000496) STAD - Stomach adenocarcinoma(5;5.91e-05) CTGAGCCAAGGCTGTGGAGGC 0.587000 43 15 0 0 1 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140734937 140734937 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr5:140734937G>A uc003ljq.2 + 0 170 c.170G>A c.(169-171)cGg>cAg p.R57Q PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljp.1_Missense_Mutation_p.R57Q NM_018917 NP_061740 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 4 (PCDHGA4), transcript variant 1, mRNA. 57 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTGGCGCCCCGGGAGCTGGCG 0.632000 84 28 0 0 1 0 0 IP6K2 51447 broad.mit.edu 37 3 48730484 48730485 + Silent DNP GG AA AA TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr3:48730484_48730485GG>AA uc003cuq.3 - 2 791_792 c.330_331CC>TT c.(328-333)ctccta>ctTTta p.110_111LL>LL IP6K2_uc003cup.3_Silent_p.110_111LL>LL NM_016291 NP_057375 Q9UHH9 IP6K2_HUMAN Homo sapiens inositol hexakisphosphate kinase 2 (IP6K2), transcript variant 1, mRNA. 110 negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway intermediate filament cytoskeleton|nucleus ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1) 15 GTCCACCTTAGGAGCTTACTTT 0.411000 199 60 0 0 1 0 0 SLC26A5 375611 broad.mit.edu 37 7 103029537 103029537 + Missense_Mutation SNP A C C TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr7:103029537A>C uc003vbz.3 - 13 1694 c.1432T>G c.(1432-1434)Tcc>Gcc p.S478A SLC26A5_uc003vbt.2_Missense_Mutation_p.S478A|SLC26A5_uc003vbu.2_Missense_Mutation_p.S478A|SLC26A5_uc003vbv.2_Intron|SLC26A5_uc003vbw.3_Non-coding_Transcript|SLC26A5_uc003vby.3_Non-coding_Transcript|SLC26A5_uc010liy.3_Non-coding_Transcript|SLC26A5_uc003vbx.3_Missense_Mutation_p.S446A NM_198999 NP_945350 P58743 S26A5_HUMAN Homo sapiens solute carrier family 26, member 5 (prestin) (SLC26A5), transcript variant a, mRNA. 478 regulation of cell shape|sensory perception of sound integral to membrane secondary active sulfate transmembrane transporter activity endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5) 43 AACAAGGAGGACACAAAAGTG 0.443000 38 6 0 0 1 0 0 NLRP13 126204 broad.mit.edu 37 19 56423937 56423937 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr19:56423937C>T uc010ygg.2 - 4 1271 c.1246G>A c.(1246-1248)Gaa>Aaa p.E416K NM_176810 NP_789780 Q86W25 NAL13_HUMAN Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA. 416 NACHT. ATP binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) AAGAGAGTTTCGTTTTTTCTT 0.463000 67 22 0 0 1 0 0 UNC79 57578 broad.mit.edu 37 14 94139696 94139696 + Splice_Site SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr14:94139696G>A uc001ybv.1 + 40 6372 c.6289_splice c.e40-1 p.E2097_splice UNC79_uc001ybs.1_Splice_Site_p.E2075_splice NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA. 2252 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 GTTTTCTTTAGGAACGAGATA 0.358000 56 24 0 0 1 0 0 GRB14 2888 broad.mit.edu 37 2 165353893 165353893 + Silent SNP G A A rs147507583 byFrequency TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr2:165353893G>A uc002ucl.3 - 9 1753 c.1212C>T c.(1210-1212)ctC>ctT p.L404L GRB14_uc010zcv.2_Silent_p.L317L NM_004490 NP_004481 Q14449 GRB14_HUMAN Homo sapiens growth factor receptor-bound protein 14 (GRB14), mRNA. 404 blood coagulation|leukocyte migration Golgi membrane|cytosol|endosome membrane|microsome|plasma membrane SH3/SH2 adaptor activity breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 32 CCCTCCAAGCGAGTCCTTCTT 0.408000 125 29 0 0 1 0 0 C12orf51 283450 broad.mit.edu 37 12 112654696 112654696 + Silent SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr12:112654696G>A uc021reb.1 - 46 7260 c.6864C>T c.(6862-6864)atC>atT p.I2288I C12orf51_uc001ttr.1_Silent_p.I175I NM_001109662 NP_001103132 Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA. p.I2000I(1)|p.I2250I(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6) 100 CATAGGAAACGATTTCAATTT 0.493000 77 21 0 0 1 0 0 OR10G4 390264 broad.mit.edu 37 11 123886368 123886368 + Silent SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr11:123886368C>T uc010sac.2 + 0 87 c.87C>T c.(85-87)ttC>ttT p.F29F NM_001004462 NP_001004462 Q8NGN3 O10G4_HUMAN Homo sapiens olfactory receptor, family 10, subfamily G, member 4 (OR10G4), mRNA. 29 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1) 48 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) TTGGAATCTTCCTGGTGGTTT 0.567000 69 30 0 0 1 0 0 OR7D4 125958 broad.mit.edu 37 19 9325379 9325379 + Silent SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr19:9325379G>A uc002mla.2 - 0 169 c.135C>T c.(133-135)atC>atT p.I45I NM_001005191 NP_001005191 Q8NG98 OR7D4_HUMAN Homo sapiens olfactory receptor, family 7, subfamily D, member 4 (OR7D4), mRNA. 45 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1) 26 CGGCCAGAATGATGAGCAGGT 0.552000 114 25 0 0 1 0 0 OR52E4 390081 broad.mit.edu 37 11 5905798 5905798 + Silent SNP A G G TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr11:5905798A>G uc010qzs.2 + 0 276 c.276A>G c.(274-276)caA>caG p.Q92Q TRIM5_uc001mbq.1_Intron NM_001005165 NP_001005165 Q8NGH9 O52E4_HUMAN Homo sapiens olfactory receptor, family 52, subfamily E, member 4 (OR52E4), mRNA. 92 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2) 30 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCAACCTCCAAGAGATCAGCT 0.463000 104 26 0 0 1 0 0 FBXW10 10517 broad.mit.edu 37 17 18675954 18675954 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr17:18675954C>T uc002gul.3 + 10 2555 c.2323C>T c.(2323-2325)Ccc>Tcc p.P775S FBXW10_uc002guj.3_Missense_Mutation_p.P746S|FBXW10_uc002guk.3_Missense_Mutation_p.P746S|FBXW10_uc010cqh.2_Missense_Mutation_p.P693S NM_031456 NP_113644 Q5XX13 FBW10_HUMAN Homo sapiens F-box and WD repeat domain containing 10 (FBXW10), mRNA. 746 NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 42 AGGCAAACCTCCCAAGTCCCG 0.468000 161 45 0 0 1 0 0 XKR6 286046 broad.mit.edu 37 8 10755495 10755495 + Silent SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr8:10755495G>A uc003wtk.1 - 2 1920 c.1893C>T c.(1891-1893)ctC>ctT p.L631L NM_173683 NP_775954 Q5GH73 XKR6_HUMAN Homo sapiens XK, Kell blood group complex subunit-related family, member 6 (XKR6), transcript variant 2, mRNA. 631 integral to membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3) 31 Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555) GCAACTCATAGAGGAGTGGTC 0.453000 69 49 0 0 1 0 0 C15orf44 81556 broad.mit.edu 37 15 65877212 65877212 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr15:65877212G>A uc010uix.2 - 9 1631 c.1243C>T c.(1243-1245)Cct>Tct p.P415S C15orf44_uc002apd.3_Missense_Mutation_p.P379S|C15orf44_uc010uja.2_Missense_Mutation_p.P361S|C15orf44_uc010ujb.2_Missense_Mutation_p.P322S|C15orf44_uc002ape.4_Missense_Mutation_p.P379S|C15orf44_uc010uiy.2_Missense_Mutation_p.P300S|C15orf44_uc010uiz.2_Missense_Mutation_p.P343S Q96SY0 CO044_HUMAN Homo sapiens chromosome 15 open reading frame 44 (C15orf44), transcript variant 3, non-coding RNA. 379 breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|urinary_tract(2) 12 TCGCCATAAGGGTTTTCTTTA 0.413000 25 8 0 0 1 0 0 IL1R1 3554 broad.mit.edu 37 2 102791117 102791117 + Silent SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr2:102791117C>T uc002tbq.3 + 9 1380 c.1062C>T c.(1060-1062)ttC>ttT p.F354F IL1R1_uc010fix.3_Silent_p.F354F|IL1R1_uc002tbr.3_Silent_p.F354F NM_000877 NP_000868 P14778 IL1R1_HUMAN Homo sapiens interleukin 1 receptor, type I (IL1R1), mRNA. 354 innate immune response integral to plasma membrane interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3) 19 Anakinra(DB00026) GTTCTGTTTTCATCTATAAAA 0.323000 49 20 0 0 1 0 0 SLCO4C1 353189 broad.mit.edu 37 5 101606459 101606459 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr5:101606459G>A uc003knm.3 - 2 958 c.671C>T c.(670-672)tCa>tTa p.S224L NM_180991 NP_851322 Q6ZQN7 SO4C1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 4C1 (SLCO4C1), mRNA. 224 cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis basolateral plasma membrane|integral to membrane sodium-independent organic anion transmembrane transporter activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 50 all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486) Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986) GTTAGAAAGTGAAGAAGTTGA 0.363000 34 20 0 0 1 0 0 ANKRD30BP2 149992 broad.mit.edu 37 21 14414902 14414902 + RNA SNP G A A rs2821609 by1000genomes TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr21:14414902G>A uc002yiy.3 + 1 c.339G>A ANKRD30BP2_uc002yja.4_Non-coding_Transcript Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA. CCAGCTTGACGTCCTTGATGG 0.443000 41 8 0 0 1 0 0 KDR 3791 broad.mit.edu 37 4 55953799 55953799 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr4:55953799G>A uc003has.3 - 26 3939 c.3637C>T c.(3637-3639)Cat>Tat p.H1213Y KDR_uc003hat.1_Missense_Mutation_p.H1213Y NM_002253 NP_002244 P35968 VGFR2_HUMAN Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA. 1213 angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) TTGTCATAATGGAATTTGGGG 0.507000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 51 12 0 0 1 0 0 SVEP1 79987 broad.mit.edu 37 9 113148336 113148337 + Missense_Mutation DNP GG AA AA TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr9:113148336_113148337GG>AA uc010mtz.3 - 42 10415_10416 c.10078_10079CC>TT c.(10078-10080)cct>TTt p.P3360F SVEP1_uc010mty.3_Missense_Mutation_p.P1286F NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA. 3360 Sushi 33. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding p.C3360F(1) NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 AATCACAAAAGGAACAGGGCAT 0.406000 82 15 0 0 1 0 0 ABCA8 10351 broad.mit.edu 37 17 66938086 66938086 + Silent SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr17:66938086G>A uc002jhq.3 - 2 430 c.90C>T c.(88-90)tcC>tcT p.S30S ABCA8_uc002jhp.3_Silent_p.S30S|ABCA8_uc010wqq.2_Silent_p.S30S|ABCA8_uc010wqr.2_Intron|ABCA8_uc002jhr.3_Silent_p.S30S|ABCA8_uc002jhs.3_Silent_p.S30S|ABCA8_uc002jht.3_Silent_p.S30S NM_007168 NP_009099 O94911 ABCA8_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA. 30 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4) 83 Breast(10;4.56e-13) ATACCATTAAGGACTCTCTTT 0.378000 46 16 0 0 1 0 0 EBF2 64641 broad.mit.edu 37 8 25708118 25708118 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr8:25708118C>T uc003xes.2 - 14 1953 c.1688G>A c.(1687-1689)gGa>gAa p.G563E DOCK5_uc003xek.3_Intron|EBF2_uc010lug.2_Non-coding_Transcript NM_022659 NP_073150 Q9HAK2 COE2_HUMAN Homo sapiens early B-cell factor 2 (EBF2), mRNA. 563 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding p.G563R(1) endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 39 all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845) UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738) ACCTCTGAATCCATTTCCATT 0.488000 157 26 0 0 1 0 0 SUCLG1 8802 broad.mit.edu 37 2 84668385 84668385 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr2:84668385G>A uc002son.3 - 3 710 c.517C>T c.(517-519)Cct>Tct p.P173S SUCLG1_uc010ysk.1_Missense_Mutation_p.P160S NM_003849 NP_003840 P53597 SUCA_HUMAN Homo sapiens succinate-CoA ligase, alpha subunit (SUCLG1), nuclear gene encoding mitochondrial protein, mRNA. 173 tricarboxylic acid cycle ATP citrate synthase activity|GTP binding|succinate-CoA ligase (GDP-forming) activity kidney(4)|large_intestine(4)|lung(2) 10 Succinic acid(DB00139) ATGACTCCAGGGCAGTTGGGC 0.458000 82 22 0 0 1 0 0 ADAMTS9 56999 broad.mit.edu 37 3 64617578 64617578 + Missense_Mutation SNP T G G TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr3:64617578T>G uc003dmg.3 - 14 2231 c.2199A>C c.(2197-2199)ttA>ttC p.L733F ADAMTS9_uc011bfo.2_Missense_Mutation_p.L705F|ADAMTS9_uc003dmh.1_Missense_Mutation_p.L562F|ADAMTS9_uc003dmk.1_Missense_Mutation_p.L733F NM_182920 NP_891550 Q9P2N4 ATS9_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA. 733 Cys-rich. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.V732L(1) breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 100 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) CTTTTGAGTTTAAAACATGAT 0.323000 51 24 0 0 1 0 0 GBP7 388646 broad.mit.edu 37 1 89607329 89607329 + Silent SNP T G G TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr1:89607329T>G uc001dna.2 - 8 1507 c.1368A>C c.(1366-1368)gcA>gcC p.A456A GBP2_uc001dmy.1_Intron NM_207398 NP_997281 Q8N8V2 GBP7_HUMAN Homo sapiens guanylate binding protein 7 (GBP7), mRNA. 456 integral to membrane GTP binding|GTPase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Lung NSC(277;0.0908) all cancers(265;0.00835)|Epithelial(280;0.0322) GGACCTCGTCTGCCTGAAGAA 0.483000 61 20 0 0 1 0 0 PLEKHO1 51177 broad.mit.edu 37 1 150128401 150128401 + Splice_Site SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr1:150128401G>A uc001ett.3 + 3 596 c.318_splice c.e3+1 p.T106_splice PLEKHO1_uc001ets.3_Splice_Site|PLEKHO1_uc001etu.3_Splice_Site|PLEKHO1_uc021oyc.1_5'Flank NM_016274 NP_057358 Q53GL0 PKHO1_HUMAN Homo sapiens pleckstrin homology domain containing, family O member 1 (PLEKHO1), mRNA. 106 PH. cytoplasm|nucleus|plasma membrane breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2) 22 Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) CGGTAACACGGTATGTTTCTC 0.522000 45 32 0 0 1 0 0 CYP3A4 1576 broad.mit.edu 37 7 99365994 99365994 + Missense_Mutation SNP G A A rs55901263 TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr7:99365994G>A uc003urv.2 - 6 760 c.653C>T c.(652-654)cCa>cTa p.P218L CYP3A4_uc003urw.2_Missense_Mutation_p.P218L|CYP3A4_uc011kiz.2_Missense_Mutation_p.P177L NM_017460 NP_059488 P08684 CP3A4_HUMAN Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 4 (CYP3A4), transcript variant 1, mRNA. 218 P -> R (in allele CYP3A4*5; dbSNP:rs55901263). alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process cell surface|endoplasmic reticulum membrane|integral to membrane|microsome albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2) 18 Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228) Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909) GAGAAAGAATGGATCCAAAAA 0.333000 66 18 0 0 1 0 0 CLCN5 1184 broad.mit.edu 37 X 49851137 49851137 + Silent SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chrX:49851137C>T uc004dos.1 + 7 1205 c.957C>T c.(955-957)ctC>ctT p.L319L CLCN5_uc004dor.1_Silent_p.L389L|CLCN5_uc004doq.1_Silent_p.L389L|CLCN5_uc004dot.1_Silent_p.L319L NM_000084 NP_000075 P51795 CLCN5_HUMAN Homo sapiens chloride channel 5 (CLCN5), transcript variant 3, mRNA. 319 excretion Golgi membrane|apical part of cell|endosome membrane|integral to plasma membrane ATP binding|antiporter activity p.L319L(2) central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1) 30 Ovarian(276;0.236) TCTTTGAGCTCGTGCCATTCA 0.512000 54 18 0 0 1 0 0 SCN5A 6331 broad.mit.edu 37 3 38645360 38645360 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr3:38645360G>A uc021wvo.1 - 10 1785 c.1733C>T c.(1732-1734)cCc>cTc p.P578L SCN5A_uc021wvk.1_Missense_Mutation_p.P578L|SCN5A_uc021wvl.1_Missense_Mutation_p.P578L|SCN5A_uc021wvm.1_Missense_Mutation_p.P578L|SCN5A_uc021wvn.1_Missense_Mutation_p.P578L|SCN5A_uc021wvp.1_Missense_Mutation_p.P578L|SCN5A_uc021wvq.1_Missense_Mutation_p.P578L|SCN5A_uc021wvr.1_Missense_Mutation_p.P578L|SCN5A_uc021wvs.1_Missense_Mutation_p.P578L|SCN5A_uc021wvt.1_Missense_Mutation_p.P578L|SCN5A_uc021wvu.1_Missense_Mutation_p.P578L|SCN5A_uc021wvv.1_Missense_Mutation_p.P578L|SCN5A_uc021wvj.1_Missense_Mutation_p.P444L|SCN5A_uc021wvi.1_Missense_Mutation_p.P444L|SCN5A_uc021wvw.1_Missense_Mutation_p.P189L NM_198056 NP_932173 Q14524 SCN5A_HUMAN Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA. 578 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) CGAGGTTCCGGGACTGGGCTG 0.647000 102 27 0 0 1 0 0 GTF3C1 2975 broad.mit.edu 37 16 27506677 27506677 + Silent SNP C T T rs148107220 TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr16:27506677C>T uc002dov.2 - 14 2527 c.2487G>A c.(2485-2487)cgG>cgA p.R829R GTF3C1_uc002dou.3_Silent_p.R829R NM_001520 NP_001511 Q12789 TF3C1_HUMAN Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA. 829 transcription factor TFIIIC complex DNA binding|protein binding breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 80 TTATCGTTCTCCGTTCACTGA 0.597000 36 8 0 0 1 0 0 CASR 846 broad.mit.edu 37 3 121980708 121980708 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr3:121980708C>T uc003eew.4 + 3 1264 c.826C>T c.(826-828)Ctt>Ttt p.L276F CASR_uc003eev.4_Missense_Mutation_p.L276F NM_001178065 NP_001171536 P41180 CASR_HUMAN Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA. 276 anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity p.D275N(1) NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) TGGCCCAGATCTTGAGCCCCT 0.557000 113 45 0 0 1 0 0 CDH19 28513 broad.mit.edu 37 18 64172194 64172194 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr18:64172194C>T uc002lkc.1 - 11 2312 c.2174G>A c.(2173-2175)gGa>gAa p.G725E CDH19_uc010dql.1_Non-coding_Transcript|CDH19_uc010xey.1_3'UTR NM_021153 NP_066976 Q9H159 CAD19_HUMAN Homo sapiens cadherin 19, type 2 (CDH19), mRNA. 725 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7) 61 Esophageal squamous(42;0.0132) TGACCCTGTTCCCTCAAAAGC 0.453000 62 27 0 0 1 0 0 CCNE1 898 broad.mit.edu 37 19 30313009 30313009 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr19:30313009C>T uc002nsn.3 + 8 995 c.812C>T c.(811-813)cCc>cTc p.P271L CCNE1_uc002nso.3_Missense_Mutation_p.P256L NM_001238 NP_001229 P24864 CCNE1_HUMAN Homo sapiens cyclin E1 (CCNE1), mRNA. 271 androgen receptor signaling pathway|cell division|positive regulation of transcription, DNA-dependent|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle cytosol|nucleoplasm androgen receptor binding|protein kinase binding|transcription coactivator activity endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|skin(1) 20 all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195) UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202) CCGCAGTATCCCCAGCAAATC 0.488000 A serous ovarian 85 33 0 0 1 0 0 DMC1 11144 broad.mit.edu 37 22 38948707 38948707 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr22:38948707G>A uc003avz.1 - 6 560 c.385C>T c.(385-387)Cgt>Tgt p.R129C DMC1_uc011anv.1_Missense_Mutation_p.R129C|DMC1_uc003awa.1_Missense_Mutation_p.R129C NM_007068 NP_008999 Q14565 DMC1_HUMAN Homo sapiens DMC1 dosage suppressor of mck1 homolog, meiosis-specific homologous recombination (yeast) (DMC1), mRNA. 129 reciprocal meiotic recombination condensed nuclear chromosome ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 11 Melanoma(58;0.0286) TTTCCAGTACGAAATTCTGTG 0.274000 Homologous recombination 39 12 0 0 1 0 0 SPRR2D 6703 broad.mit.edu 37 1 153012733 153012733 + Silent SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr1:153012733C>T uc021ozq.1 - 0 90 c.90G>A c.(88-90)ccG>ccA p.P30P SPRR2D_uc001fbb.2_Silent_p.P30P NM_006945 NP_008876 P22532 SPR2D_HUMAN Homo sapiens small proline-rich protein 2D (SPRR2D), mRNA. 30 3 X 9 AA tandem repeats of P-K-C-P-[EQ]- P-C-P-[PS]. keratinization cornified envelope|cytoplasm endometrium(1)|skin(1) 2 Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) CAGGGCACTTCGGGGGTGGAC 0.617000 128 37 0 0 1 0 0 OR10J1 26476 broad.mit.edu 37 1 159410378 159410378 + Missense_Mutation SNP C G G TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr1:159410378C>G uc010piv.2 + 0 867 c.830C>G c.(829-831)aCc>aGc p.T277S BC038194_uc001fts.4_Intron NM_012351 NP_036483 P30954 O10J1_HUMAN Homo sapiens olfactory receptor, family 10, subfamily J, member 1 (OR10J1), mRNA. 277 sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1) 25 all_hematologic(112;0.0429) TCAGAGAACACCAGAGAACAT 0.512000 67 59 0 0 1 0 0 MLL2 8085 broad.mit.edu 37 12 49418438 49418438 + Silent SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr12:49418438G>A uc001rta.4 - 49 15975 c.15975C>T c.(15973-15975)ccC>ccT p.P5325P NM_003482 NP_003473 O14686 MLL2_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA. 5325 chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5) 366 GCTCCATAAGGGGGTGGCGCC 0.532000 """N, F, Mis""" """medulloblastoma, renal""" HNSCC(34;0.089) 17 10 0 0 1 0 0 IL13RA2 3598 broad.mit.edu 37 X 114251824 114251824 + Silent SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chrX:114251824G>A uc004epx.3 - 1 134 c.9C>T c.(7-9)ttC>ttT p.F3F IL13RA2_uc010nqd.1_Silent_p.F3F|IL13RA2_uc022cdb.1_Silent_p.F3F NM_000640 NP_000631 Q14627 I13R2_HUMAN Homo sapiens interleukin 13 receptor, alpha 2 (IL13RA2), mRNA. 3 extracellular space|integral to membrane|soluble fraction cytokine receptor activity p.F3F(2) NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 23 CCAAGCAAACGAAAGCCATTT 0.328000 63 18 0 0 1 0 0 AIM1L 55057 broad.mit.edu 37 1 26672735 26672735 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr1:26672735C>T uc001bmd.4 - 1 564 c.414G>A c.(412-414)atG>atA p.M138I NM_001039775 NP_001034864 Q8N1P7 AIM1L_HUMAN Homo sapiens absent in melanoma 1-like (AIM1L), mRNA. 0 Beta/gamma crystallin 'Greek key' 3. sugar binding endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2) 12 all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239) CAGTCCTGGCCATAGCTCCCA 0.632000 48 8 0 0 1 0 0 PRSS55 203074 broad.mit.edu 37 8 10396060 10396060 + Nonsense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr8:10396060G>A uc003wta.3 + 4 856 c.816G>A c.(814-816)tgG>tgA p.W272* AK307207_uc010lru.3_Intron|PRSS55_uc022art.1_Intron|PRSS55_uc003wtb.3_Intron NM_198464 NP_940866 Q6UWB4 PRS55_HUMAN Homo sapiens protease, serine, 55 (PRSS55), transcript variant 1, mRNA. 272 Peptidase S1. proteolysis integral to membrane serine-type endopeptidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1) 31 TCATAAGCTGGGGAAAGAGCT 0.577000 80 20 0 0 1 0 0 KIAA1586 57691 broad.mit.edu 37 6 56917839 56917839 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr6:56917839C>T uc003pdj.3 + 3 712 c.542C>T c.(541-543)tCc>tTc p.S181F KIAA1586_uc011dxm.2_Missense_Mutation_p.S154F NM_020931 NP_065982 Q9HCI6 K1586_HUMAN Homo sapiens KIAA1586 (KIAA1586), mRNA. 181 nucleic acid binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1) 18 Lung NSC(77;0.0969) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) GTCCATGTGTCCAAGGAATGG 0.363000 99 27 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110420353 110420353 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr8:110420353G>A uc003yne.3 + 17 1993 c.1889G>A c.(1888-1890)gGa>gAa p.G630E NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA. 630 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) CAAACCAAAGGAAAACCCAAC 0.403000 HNSCC(38;0.096) 55 18 0 0 1 0 0 MYBPC1 4604 broad.mit.edu 37 12 102056192 102056192 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr12:102056192G>A uc001tii.3 + 18 2154 c.2014G>A c.(2014-2016)Gat>Aat p.D672N MYBPC1_uc001tig.3_Missense_Mutation_p.D697N|MYBPC1_uc010svr.2_Missense_Mutation_p.D672N|MYBPC1_uc010svs.2_Missense_Mutation_p.D672N|MYBPC1_uc001tij.3_Missense_Mutation_p.D672N|MYBPC1_uc010svt.2_Missense_Mutation_p.D660N|MYBPC1_uc010svu.2_Missense_Mutation_p.D653N|MYBPC1_uc001tik.3_Missense_Mutation_p.D646N|MYBPC1_uc001tih.3_Missense_Mutation_p.D697N|MYBPC1_uc010svq.2_Missense_Mutation_p.D659N NM_206820 NP_996556 Q00872 MYPC1_HUMAN Homo sapiens myosin binding protein C, slow type (MYBPC1), transcript variant 3, mRNA. 672 Fibronectin type-III 1. cell adhesion|muscle filament sliding cytosol|myofibril|myosin filament actin binding|structural constituent of muscle|titin binding p.D671G(1) breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 57 GCTGAATTTTGATCTCTGCAA 0.428000 54 8 0 0 1 0 0 ANKHD1-EIF4EBP3 404734 broad.mit.edu 37 5 139889228 139889228 + Missense_Mutation SNP C G G TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr5:139889228C>G uc003lfs.2 + 20 3926 c.3772C>G c.(3772-3774)Ctt>Gtt p.L1258V ANKHD1-EIF4EBP3_uc003lfq.2_Missense_Mutation_p.L1277V|ANKHD1-EIF4EBP3_uc003lfr.3_Missense_Mutation_p.L1258V|ANKHD1-EIF4EBP3_uc003lft.1_Missense_Mutation_p.L469V|ANKHD1-EIF4EBP3_uc003lfu.1_Missense_Mutation_p.L738V|ANKHD1-EIF4EBP3_uc003lfv.1_Missense_Mutation_p.L335V|ANKHD1-EIF4EBP3_uc011czh.1_5'UTR|ANKHD1-EIF4EBP3_uc003lfw.3_5'Flank NM_020690 NP_065741 Q8IWZ2 Q8IWZ2_HUMAN Homo sapiens ANKHD1-EIF4EBP3 readthrough (ANKHD1-EIF4EBP3), mRNA. 1258 cytoplasm|nucleus RNA binding breast(1)|endometrium(8)|kidney(6)|large_intestine(14)|lung(17)|ovary(6)|prostate(2)|skin(1)|urinary_tract(2) 57 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACAGACGGGTCTTACCCCCTT 0.393000 61 14 0 0 1 0 0 ANGPTL4 51129 broad.mit.edu 37 19 8430912 8430912 + Silent SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr19:8430912G>A uc002mjq.1 + 1 588 c.393G>A c.(391-393)gaG>gaA p.E131E ANGPTL4_uc002mjr.1_Silent_p.E131E|ANGPTL4_uc010xkc.1_5'UTR NM_139314 NP_647475 Q9BY76 ANGL4_HUMAN Homo sapiens angiopoietin-like 4 (ANGPTL4), transcript variant 1, mRNA. 131 angiogenesis|cell differentiation|cellular lipid metabolic process|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|positive regulation of angiogenesis|response to hypoxia|signal transduction|triglyceride homeostasis extracellular space|proteinaceous extracellular matrix enzyme inhibitor activity|receptor binding large_intestine(1)|lung(1)|ovary(2)|skin(2) 6 GGCACCTGGAGAAGCAGCACC 0.562000 40 15 0 0 1 0 0 PPME1 51400 broad.mit.edu 37 11 73941314 73941314 + Silent SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr11:73941314C>T uc001ouw.3 + 5 522 c.423C>T c.(421-423)gcC>gcT p.A141A PPME1_uc009yty.3_Silent_p.A11A|PPME1_uc001oux.3_5'Flank NM_016147 NP_057231 Q9Y570 PPME1_HUMAN Homo sapiens protein phosphatase methylesterase 1 (PPME1), mRNA. 141 protein demethylation carboxylesterase activity|protein C-terminal methylesterase activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity endometrium(1)|large_intestine(2)|lung(2) 5 Breast(11;3.29e-05) TGGTTGAAGCCATGTATGGGG 0.448000 121 29 0 0 1 0 0 KCNK10 54207 broad.mit.edu 37 14 88652371 88652371 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr14:88652371C>T uc001xwm.3 - 6 1262 c.1140G>A c.(1138-1140)atG>atA p.M380I KCNK10_uc001xwn.3_Missense_Mutation_p.M380I|KCNK10_uc001xwo.3_Missense_Mutation_p.M375I NM_138318 NP_612191 P57789 KCNKA_HUMAN Homo sapiens potassium channel, subfamily K, member 10 (KCNK10), transcript variant 3, mRNA. 375 signal transduction integral to membrane potassium channel activity|voltage-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 47 GCCGGCGCTCCATGCTGCGGA 0.667000 31 7 0 0 1 0 0 WIPF3 644150 broad.mit.edu 37 7 29918687 29918687 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr7:29918687C>T uc022aaz.1 + 3 468 c.286C>T c.(286-288)Ccc>Tcc p.P96S WIPF3_uc003taj.2_Missense_Mutation_p.P96S NM_001080529 NP_001073998 B8ZZV2 B8ZZV2_HUMAN Homo sapiens WAS/WASL interacting protein family, member 3 (WIPF3), mRNA. 96 p.P96L(1) breast(2)|large_intestine(3)|lung(6)|ovary(1) 12 GAGCACACCTCCCACCCTGGG 0.517000 17 10 0 0 1 0 0 CATSPERD 257062 broad.mit.edu 37 19 5754252 5754252 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr19:5754252C>T uc002mda.3 + 12 1335 c.1274C>T c.(1273-1275)cCt>cTt p.P425L CATSPERD_uc010duj.1_Missense_Mutation_p.P83L NM_152784 NP_689997 Q86XM0 TM146_HUMAN Homo sapiens transmembrane protein 146 (TMEM146), mRNA. 425 integral to membrane p.P425H(1) TCCCTGATTCCTCTGGTAAGT 0.493000 86 26 0 0 1 0 0 IGSF1 3547 broad.mit.edu 37 X 130410929 130410929 + Silent SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chrX:130410929C>T uc004ewe.4 - 13 2890 c.2607G>A c.(2605-2607)gtG>gtA p.V869V IGSF1_uc004ewd.3_Silent_p.V864V|IGSF1_uc022cdv.1_Silent_p.V855V|IGSF1_uc004ewf.2_Silent_p.V844V NM_001170961 NP_001164432 Q8N6C5 IGSF1_HUMAN Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA. 864 Ig-like C2-type 8. regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2) 78 CCACGAGCTCCACAGGGTCGC 0.537000 99 57 0 0 1 0 0 DGKI 9162 broad.mit.edu 37 7 137269993 137269993 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr7:137269993C>T uc003vtt.3 - 13 1526 c.1525G>A c.(1525-1527)Gac>Aac p.D509N DGKI_uc003vtu.3_Missense_Mutation_p.D209N NM_004717 NP_004708 O75912 DGKI_HUMAN Homo sapiens diacylglycerol kinase, iota (DGKI), mRNA. 509 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding p.P508T(1) breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GGAGGCAAGTCGGGGTTTCTT 0.478000 120 30 0 0 1 0 0 ANKRD24 170961 broad.mit.edu 37 19 4217071 4217071 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr19:4217071G>A uc010dtt.1 + 17 2190 c.1914G>A c.(1912-1914)atG>atA p.M638I ANKRD24_uc002lzs.2_Missense_Mutation_p.M609I|ANKRD24_uc002lzt.2_Missense_Mutation_p.M610I NM_133475 NP_597732 Q8TF21 ANR24_HUMAN Homo sapiens ankyrin repeat domain 24 (ANKRD24), mRNA. 638 endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1) 21 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181) TGGAGGCCATGGGGGTGGAGG 0.557000 39 12 0 0 1 0 0 SLITRK6 84189 broad.mit.edu 37 13 86370073 86370073 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr13:86370073G>A uc001vll.1 - 1 1030 c.571C>T c.(571-573)Cgt>Tgt p.R191C SLITRK6_uc021rla.1_Missense_Mutation_p.R191C NM_032229 NP_115605 Q9H5Y7 SLIK6_HUMAN Homo sapiens SLIT and NTRK-like family, member 6 (SLITRK6), mRNA. 191 integral to membrane p.R191C(2)|p.L190I(1) breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_neural(89;0.117)|Medulloblastoma(90;0.163) GBM - Glioblastoma multiforme(99;0.0456) TGATTTCCACGAAGATCTAGA 0.388000 121 39 0 0 1 0 0 EVX2 344191 broad.mit.edu 37 2 176948377 176948377 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr2:176948377G>A uc010zeu.2 - 0 314 c.128C>T c.(127-129)tCg>tTg p.S43L NM_001080458 NP_001073927 Q03828 EVX2_HUMAN Homo sapiens even-skipped homeobox 2 (EVX2), mRNA. 43 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.S43S(1) kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3) 16 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115) CGGGTGCTGCGAATTTTCCAG 0.602000 70 9 0 0 1 0 0 TRAFD1 10906 broad.mit.edu 37 12 112578685 112578685 + Silent SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr12:112578685C>T uc001ttp.3 + 4 386 c.300C>T c.(298-300)ctC>ctT p.L100L TRAFD1_uc001tto.3_Silent_p.L100L|TRAFD1_uc009zwb.2_Silent_p.L100L|TRAFD1_uc010syj.1_Non-coding_Transcript NM_006700 NP_006691 O14545 TRAD1_HUMAN Homo sapiens TRAF-type zinc finger domain containing 1 (TRAFD1), transcript variant 2, mRNA. 100 negative regulation of innate immune response intracellular protein binding|zinc ion binding kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 17 TTTCCATTCTCAAACTGAAGG 0.463000 85 28 0 0 1 0 0 ANKRD24 170961 broad.mit.edu 37 19 4219687 4219687 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr19:4219687G>A uc010dtt.1 + 18 3379 c.3103G>A c.(3103-3105)Gaa>Aaa p.E1035K NM_133475 NP_597732 Q8TF21 ANR24_HUMAN Homo sapiens ankyrin repeat domain 24 (ANKRD24), mRNA. 1035 endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1) 21 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181) GACCGAGGCGGAAAGGGCTCG 0.667000 58 15 0 0 1 0 0 NBEAL2 23218 broad.mit.edu 37 3 47039691 47039692 + Missense_Mutation DNP CC TT TT TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr3:47039691_47039692CC>TT uc003cqp.3 + 20 3272_3273 c.3093_3094CC>TT c.(3091-3096)accctc>acTTtc p.L1032F NBEAL2_uc010hjm.2_Missense_Mutation_p.L593F NM_015175 NP_055990 Q6ZNJ1 NBEL2_HUMAN Homo sapiens neurobeachin-like 2 (NBEAL2), mRNA. 1032 binding NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 Acute lymphoblastic leukemia(5;0.0534) BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656) ACCTCTGGACCCTCAGTGACTT 0.614000 19 6 0 0 1 0 0 NTRK3 4916 broad.mit.edu 37 15 88472554 88472554 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr15:88472554C>T uc002bme.2 - 16 2307 c.2001G>A c.(1999-2001)atG>atA p.M667I NTRK3_uc002bmh.2_Missense_Mutation_p.M659I|NTRK3_uc002bmf.2_Missense_Mutation_p.M667I|NTRK3_uc021sua.1_Missense_Mutation_p.M659I|NTRK3_uc010upl.1_Missense_Mutation_p.M569I|NTRK3_uc010bnh.1_Missense_Mutation_p.M659I NM_001012338 NP_001012338 Q16288 NTRK3_HUMAN Homo sapiens neurotrophic tyrosine kinase, receptor, type 3 (NTRK3), transcript variant 1, mRNA. 667 Protein kinase. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity p.G666G(1) ETV6/NTRK3(238) breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2) 119 BRCA - Breast invasive adenocarcinoma(143;0.211) CCAGGTACACCATACCCGAGG 0.582000 T ETV6 """congenital fibrosarcoma, Secretory breast """ TSP Lung(13;0.10) 48 12 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 21073827 21073827 + Silent SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr16:21073827C>T uc010vbe.2 - 24 3696 c.3696G>A c.(3694-3696)caG>caA p.Q1232Q NM_017539 NP_060009 Q8TD57 DYH3_HUMAN Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA. 1232 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) GGTAGATTTTCTGTATGAATG 0.413000 95 28 0 0 1 0 0 GRIN2A 2903 broad.mit.edu 37 16 9857492 9857492 + Silent SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr16:9857492G>A uc010uym.2 - 13 4219 c.3909C>T c.(3907-3909)gaC>gaT p.D1303D GRIN2A_uc002czo.4_Silent_p.D1303D|GRIN2A_uc010uyn.2_Intron|GRIN2A_uc002czr.4_Intron NM_000833 NP_001127879 Q12879 NMDE1_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA. 1303 response to ethanol N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GCCTGCTAAGGTCTAGCTCCC 0.493000 88 32 0 0 1 0 0 OR3A4P 390756 broad.mit.edu 37 17 3214341 3214341 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr17:3214341C>T uc002fvi.2 + 0 803 c.737C>T c.(736-738)tCc>tTc p.S246F Homo sapiens olfactory receptor, family 3, subfamily A, member 4 pseudogene (OR3A4P), non-coding RNA. ACGTGTAGTTCCCACCTCACT 0.567000 73 30 0 0 1 0 0 COL5A3 50509 broad.mit.edu 37 19 10079068 10079068 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr19:10079068C>T uc002mmq.1 - 58 4393 c.4307G>A c.(4306-4308)gGa>gAa p.G1436E NM_015719 NP_056534 P25940 CO5A3_HUMAN Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA. 1436 Triple-helical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) CACAGGGTCTCCCTTGGGACC 0.607000 145 40 0 0 1 0 0 SLC47A1 55244 broad.mit.edu 37 17 19470492 19470492 + Silent SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr17:19470492C>T uc002gvx.3 + 13 1346 c.1260C>T c.(1258-1260)ggC>ggT p.G420G SLC47A1_uc002gvy.1_Silent_p.G420G|SLC47A1_uc010vyz.1_Silent_p.G397G|SLC47A1_uc010cqp.1_Intron|SLC47A1_uc010cqq.1_Silent_p.G225G|SLC47A1_uc010vza.1_Silent_p.G132G|SLC47A1_uc010vzb.1_Silent_p.G154G|SLC47A1_uc010vzc.1_Silent_p.G92G NM_018242 NP_060712 Q96FL8 S47A1_HUMAN Homo sapiens solute carrier family 47, member 1 (SLC47A1), mRNA. 420 integral to membrane|plasma membrane drug:hydrogen antiporter activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 23 all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345) ATGTGGTTGGCCTCCCCATCG 0.547000 161 44 0 0 1 0 0 XDH 7498 broad.mit.edu 37 2 31602786 31602786 + Silent SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr2:31602786G>A uc002rnv.1 - 12 1268 c.1189C>T c.(1189-1191)Ctg>Ttg p.L397L NM_000379 NP_000370 P47989 XDH_HUMAN Homo sapiens xanthine dehydrogenase (XDH), mRNA. 397 FAD-binding PCMH-type. purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) GGGCTCAGCAGGGTCTTTCTG 0.527000 87 23 0 0 1 0 0 NEFH 4744 broad.mit.edu 37 22 29879464 29879464 + Silent SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr22:29879464G>A uc003afo.3 + 1 1055 c.984G>A c.(982-984)agG>agA p.R328R NM_021076 NP_066554 P12036 NFH_HUMAN Homo sapiens neurofilament, heavy polypeptide (NEFH), mRNA. 328 Coil 2B.|Rod. cell death|nervous system development neurofilament cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3) 30 TGCAGGCCAGGACCACAGAGC 0.612000 115 36 0 0 1 0 0 C15orf48 84419 broad.mit.edu 37 15 45724290 45724290 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr15:45724290C>T uc001zvg.3 + 3 261 c.143C>T c.(142-144)cCa>cTa p.P48L C15orf48_uc001zvh.3_Missense_Mutation_p.P48L|C15orf48_uc021skp.1_5'Flank NM_197955 NP_922946 Q9C002 NMES1_HUMAN Homo sapiens chromosome 15 open reading frame 48 (C15orf48), transcript variant 1, mRNA. 48 nucleus large_intestine(1)|lung(2)|ovary(1) 4 Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.67e-16)|GBM - Glioblastoma multiforme(94;1.71e-06) AAAAAAAATCCAGAACCTTGG 0.318000 28 4 0 0 1 0 0 PIP5K1B 8395 broad.mit.edu 37 9 71549834 71549834 + Silent SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr9:71549834G>A uc004agu.3 + 12 1535 c.1230G>A c.(1228-1230)cgG>cgA p.R410R PIP5K1B_uc011lrq.2_Silent_p.R410R|PIP5K1B_uc004agv.3_Non-coding_Transcript NM_003558 NP_003549 O14986 PI51B_HUMAN Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, beta (PIP5K1B), transcript variant 2, mRNA. 410 endomembrane system|membrane|uropod 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding breast(1)|large_intestine(2)|stomach(1) 4 Lung(182;0.133) CTAAGAAACGGTGCAATTCAA 0.408000 55 16 0 0 1 0 0 USP28 57646 broad.mit.edu 37 11 113675607 113675607 + Missense_Mutation SNP A T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr11:113675607A>T uc001poh.3 - 19 2595 c.2562T>A c.(2560-2562)aaT>aaA p.N854K USP28_uc001pog.3_Missense_Mutation_p.N530K|USP28_uc010rwy.2_Missense_Mutation_p.N697K|USP28_uc001poi.3_Missense_Mutation_p.N177K NM_020886 NP_065937 Q96RU2 UBP28_HUMAN Homo sapiens ubiquitin specific peptidase 28 (USP28), mRNA. 854 DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|cell proliferation|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process nucleolus|nucleoplasm protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104) CATAGCTAAGATTTTTATCTG 0.453000 58 17 0 0 1 0 0 MCM9 254394 broad.mit.edu 37 6 119245020 119245020 + Missense_Mutation SNP G A A rs150656647 TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr6:119245020G>A uc021zeh.1 - 1 592 c.577C>T c.(577-579)Cca>Tca p.P193S MCM9_uc003pyh.3_Missense_Mutation_p.P193S NM_017696 NP_060166 Q9NXL9 MCM9_HUMAN Homo sapiens minichromosome maintenance complex component 9 (MCM9), transcript variant 1, mRNA. 193 DNA replication ATP binding|DNA binding|nucleoside-triphosphatase activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(87;0.122)|all_epithelial(87;0.179) GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194) CACCTGGTTGGAGACGAAGAC 0.418000 54 20 0 0 1 0 0 SCAND3 114821 broad.mit.edu 37 6 28541494 28541494 + Silent SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr6:28541494C>T uc003nlo.3 - 3 2790 c.2172G>A c.(2170-2172)ggG>ggA p.G724G NM_052923 NP_443155 Q6R2W3 SCND3_HUMAN Homo sapiens SCAN domain containing 3 (SCAND3), mRNA. 724 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 ttttggttttcccttcttcag 0.338000 27 13 0 0 1 0 0 OR1D4 653166 broad.mit.edu 37 17 3144330 3144330 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr17:3144330G>A uc002fvf.3 + 0 361 c.361G>A c.(361-363)Gat>Aat p.D121N Homo sapiens olfactory receptor, family 1, subfamily D, member 4 (gene/pseudogene) (OR1D4), non-coding RNA. GATGGCGTATGATCGCTATGT 0.567000 64 13 0 0 1 0 0 ADH1A 124 broad.mit.edu 37 4 100208729 100208729 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr4:100208729G>A uc003hur.2 - 1 226 c.112C>T c.(112-114)Cgt>Tgt p.R38C LOC100507053_uc003hum.2_Intron|ADH1A_uc010ilf.1_5'Flank|ADH1A_uc010ilg.2_Missense_Mutation_p.R38C NM_000667 NP_000658 P07327 ADH1A_HUMAN Homo sapiens alcohol dehydrogenase 1A (class I), alpha polypeptide (ADH1A), mRNA. 38 ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1) 25 OV - Ovarian serous cystadenocarcinoma(123;9.56e-08) Fomepizole(DB01213)|NADH(DB00157) ACCTTAATACGAACTTCATGG 0.348000 50 9 0 0 1 0 0 ZNF295 49854 broad.mit.edu 37 21 43413584 43413584 + Silent SNP A G G TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr21:43413584A>G uc021wjo.1 - 0 621 c.621T>C c.(619-621)agT>agC p.S207S ZNF295_uc002yzz.4_Silent_p.S207S|ZNF295_uc002zab.4_Silent_p.S207S|ZNF295_uc002yzy.4_Silent_p.S207S|ZNF295_uc002zaa.4_Silent_p.S207S|ZNF295_uc010gov.1_Silent_p.S207S|ZNF295_uc002zac.2_Silent_p.S207S NM_020727 NP_065778 Q9ULJ3 ZN295_HUMAN Homo sapiens zinc finger protein 295 (ZNF295), transcript variant 2, mRNA. 207 negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus methyl-CpG binding|protein binding|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 37 CTTTCGGCCAACTCTTTTCAG 0.413000 138 38 0 0 1 0 0 GABRA5 2558 broad.mit.edu 37 15 27128374 27128374 + Silent SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr15:27128374G>A uc001zbd.2 + 4 802 c.270G>A c.(268-270)acG>acA p.T90T GABRB3_uc001zbb.3_Intron|GABRA5_uc021sgi.1_Silent_p.T90T NM_000810 NP_001158509 P31644 GBRA5_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 5 (GABRA5), transcript variant 1, mRNA. 90 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1) 49 all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227) all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TGTCCGACACGGAAATGGTAG 0.652000 41 14 0 0 1 0 0 MUC2 4583 broad.mit.edu 37 11 1083140 1083140 + Silent SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr11:1083140C>T uc001lsx.1 + 15 2067 c.2040C>T c.(2038-2040)tcC>tcT p.S680S NM_002457 NP_002448 Q02817 MUC2_HUMAN Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA. 680 inner mucus layer|outer mucus layer protein binding NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) CCTGCCGCTCCCTCTCCGAGG 0.657000 17 6 0 0 1 0 0 LGALS9B 284194 broad.mit.edu 37 17 20354887 20354887 + Silent SNP A C C TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr17:20354887A>C uc002gxa.1 - 9 896 c.831T>G c.(829-831)gcT>gcG p.A277A LGALS9B_uc002gwz.1_Silent_p.A276A|LGALS9B_uc010vzh.1_Silent_p.A189A NM_001042685 NP_001036150 Q3B8N2 LEG9B_HUMAN Homo sapiens lectin, galactoside-binding, soluble, 9B (LGALS9B), mRNA. 277 Galectin 2. sugar binding central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(2) 10 TACGGACCACAGCATTCTCAT 0.572000 49 13 0 0 1 0 0 FLNA 2316 broad.mit.edu 37 X 153594930 153594930 + Splice_Site SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chrX:153594930C>T uc004fkk.2 - 7 1314 c.1065_splice c.e7+1 p.K355_splice FLNA_uc010nuu.1_Splice_Site_p.K355_splice NM_001110556 NP_001104026 P21333 FLNA_HUMAN Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA. 355 actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane Fc-gamma receptor I complex binding|GTP-Ral binding|Rac GTPase binding|actin filament binding|glycoprotein binding|protein homodimerization activity|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-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) AAGGGCTCACCTTATGAGTCC 0.627000 45 20 0 0 1 0 0 IKZF1 10320 broad.mit.edu 37 7 50444451 50444451 + Silent SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr7:50444451C>T uc003tow.4 + 3 536 c.381C>T c.(379-381)atC>atT p.I127I IKZF1_uc022acq.1_Silent_p.I127I|IKZF1_uc003tpa.4_Intron|IKZF1_uc022acr.1_Intron|IKZF1_uc022acs.1_Intron|IKZF1_uc022act.1_Intron|IKZF1_uc022acu.1_Intron|IKZF1_uc003tox.4_Silent_p.I127I|IKZF1_uc022acv.1_Intron|IKZF1_uc022acw.1_Intron|IKZF1_uc022acx.1_Silent_p.I127I|IKZF1_uc022acy.1_Intron|IKZF1_uc022acz.1_Intron|IKZF1_uc011kck.2_Intron|IKZF1_uc003toy.4_Silent_p.I127I|IKZF1_uc003toz.4_Silent_p.I97I|IKZF1_uc010kyx.3_Intron NM_006060 NP_006051 Q13422 IKZF1_HUMAN Homo sapiens IKAROS family zinc finger 1 (Ikaros) (IKZF1), transcript variant 1, mRNA. 127 cell cycle|chromatin modification|mesoderm development cytoplasm|nucleus zinc ion binding p.?(131) haematopoietic_and_lymphoid_tissue(275)|lung(1) 276 Glioma(55;0.08)|all_neural(89;0.245) Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07) TCATTTGCATCGGGCCCAATG 0.517000 """D,T""" BCL6 """ALL, DLBCL""" 38 7 0 0 1 0 0 CCDC88C 440193 broad.mit.edu 37 14 91760643 91760643 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr14:91760643C>T uc010aty.3 - 22 4140 c.3986G>A c.(3985-3987)gGg>gAg p.G1329E NM_001080414 NP_001073883 Q9P219 DAPLE_HUMAN Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA. 1329 Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation cytoplasm|insoluble fraction PDZ domain binding|microtubule binding|protein self-association central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1) 24 all_cancers(154;0.0468) CTCCAAGTTCCCCTTGAGACG 0.537000 47 15 0 0 1 0 0 SLC5A7 60482 broad.mit.edu 37 2 108609540 108609540 + Silent SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr2:108609540G>A uc002tdv.3 + 3 681 c.405G>A c.(403-405)ctG>ctA p.L135L SLC5A7_uc010ywm.2_5'UTR|SLC5A7_uc010fjj.3_Silent_p.L135L|SLC5A7_uc010ywn.2_Silent_p.L22L NM_021815 NP_068587 Q9GZV3 SC5A7_HUMAN Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA. 135 acetylcholine biosynthetic process|neurotransmitter secretion integral to membrane|plasma membrane choline:sodium symporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Choline(DB00122) TTCCTGCACTGATGGGAGAAA 0.443000 52 29 0 0 1 0 0 IFNE 338376 broad.mit.edu 37 9 21481523 21481523 + Silent SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr9:21481523C>T uc003zpg.3 - 0 790 c.171G>A c.(169-171)agG>agA p.R57R MIR31HG_uc003zpe.2_Intron NM_176891 NP_795372 Q86WN2 IFNE_HUMAN Homo sapiens interferon, epsilon (IFNE), mRNA. 57 defense response|response to virus extracellular space cytokine activity|cytokine receptor binding large_intestine(2)|lung(1)|skin(1) 4 GAAAGTTTTTCCTGTGTGGTA 0.413000 76 24 0 0 1 0 0 AK302694 0 broad.mit.edu 37 10 30998229 30998229 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr10:30998229C>T uc010qdx.1 + 7 1317 c.775C>T c.(775-777)Ccc>Tcc p.P259S SubName: Full=cDNA FLJ59642, highly similar to Supervillin; TTTCAAAGATCCCGGAAGTTT 0.463000 20 5 0 0 1 0 0 PPP2R3A 5523 broad.mit.edu 37 3 135745729 135745729 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr3:135745729C>T uc003eqv.2 + 2 2668 c.2051C>T c.(2050-2052)tCt>tTt p.S684F PPP2R3A_uc011blz.2_5'UTR|PPP2R3A_uc003eqw.2_Missense_Mutation_p.S63F|PPP2R3A_uc011bma.1_Non-coding_Transcript NM_002718 NP_002709 Q06190 P2R3A_HUMAN Homo sapiens protein phosphatase 2, regulatory subunit B'', alpha (PPP2R3A), transcript variant 1, mRNA. 684 Pro-rich. protein dephosphorylation protein phosphatase type 2A complex calcium ion binding|protein binding|protein phosphatase type 2A regulator activity breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 CCAGCCACCTCTCCAAGTAGT 0.418000 82 24 0 0 1 0 0 SMARCA4 6597 broad.mit.edu 37 19 11134267 11134267 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr19:11134267G>A uc010dxp.3 + 20 3293 c.2933G>A c.(2932-2934)cGa>cAa p.R978Q SMARCA4_uc010dxo.3_Missense_Mutation_p.R978Q|SMARCA4_uc002mqf.4_Missense_Mutation_p.R978Q|SMARCA4_uc002mqg.1_Missense_Mutation_p.R978Q|SMARCA4_uc010dxq.3_Missense_Mutation_p.R978Q|SMARCA4_uc010dxr.3_Missense_Mutation_p.R978Q|SMARCA4_uc002mqj.4_Missense_Mutation_p.R978Q|SMARCA4_uc010dxs.3_Missense_Mutation_p.R978Q|SMARCA4_uc010dxt.1_Missense_Mutation_p.R198Q|SMARCA4_uc002mqh.4_Missense_Mutation_p.R101Q|SMARCA4_uc002mqi.1_Missense_Mutation_p.R181Q NM_001128844 NP_003063 P51532 SMCA4_HUMAN Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 (SMARCA4), transcript variant 2, mRNA. 978 chromatin remodeling|negative regulation of S phase of mitotic cell cycle|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nuclear chromatin ATP binding|DNA binding|DNA-dependent ATPase activity|androgen receptor binding|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 163 all_lung(6;0.0512)|Lung NSC(9;0.0568) TTCTTGCTCCGACGACTCAAG 0.577000 """F, N, Mis""" NSCLC 20 13 0 0 1 0 0 IRGC 56269 broad.mit.edu 37 19 44223535 44223535 + Silent SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr19:44223535C>T uc002oxh.3 + 1 972 c.825C>T c.(823-825)ggC>ggT p.G275G IRGC_uc021uvh.1_Silent_p.G275G NM_019612 NP_062558 Q6NXR0 IIGP5_HUMAN Homo sapiens immunity-related GTPase family, cinema (IRGC), mRNA. 275 membrane GTP binding|hydrolase activity, acting on acid anhydrides central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2) 25 Prostate(69;0.0435) TGGTGTTGGGCGTCATCCAGG 0.637000 52 19 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55538745 55538745 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr8:55538745C>T uc003xsd.1 + 3 2451 c.2303C>T c.(2302-2304)tCc>tTc p.S768F RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA. 768 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding p.S768F(2)|p.S768C(2) NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) ACTCAAAATTCCAAGGTTCAA 0.289000 41 27 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92086801 92086801 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr11:92086801C>T uc001pdj.4 + 0 1540 c.1523C>T c.(1522-1524)aCc>aTc p.T508I NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA. 508 Cadherin 5. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) GGGTACATCACCTATAGTATC 0.398000 TCGA Ovarian(4;0.039) 96 26 0 0 1 0 0 MAP3K4 4216 broad.mit.edu 37 6 161508765 161508766 + Missense_Mutation DNP AC TT TT TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr6:161508765_161508766AC>TT uc003qtn.3 + 9 2744_2745 c.2602_2603AC>TT c.(2602-2604)act>TTt p.T868F MAP3K4_uc010kkc.1_Missense_Mutation_p.T868F|MAP3K4_uc003qto.3_Missense_Mutation_p.T868F|MAP3K4_uc011efz.2_Non-coding_Transcript|MAP3K4_uc011ega.2_Missense_Mutation_p.T321F NM_005922 NP_005913 Q9Y6R4 M3K4_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase 4 (MAP3K4), transcript variant 1, mRNA. 868 JNK cascade|activation of MAPKK activity|positive regulation of JUN kinase activity perinuclear region of cytoplasm ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1) 77 Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771) OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05) TGTTCCAGACACTCTTGCTGAG 0.391000 80 23 0 0 1 0 0 TPTE2 93492 broad.mit.edu 37 13 20006621 20006621 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr13:20006621G>A uc001umd.3 - 16 1425 c.1214C>T c.(1213-1215)tCg>tTg p.S405L TPTE2_uc009zzk.3_Non-coding_Transcript|TPTE2_uc009zzl.3_Missense_Mutation_p.S294L|TPTE2_uc001ume.3_Missense_Mutation_p.S328L|TPTE2_uc009zzm.3_Missense_Mutation_p.S76L|TPTE2_uc010tcm.2_Non-coding_Transcript|TPTE2_uc010tcl.2_Missense_Mutation_p.S76L NM_199254 NP_954863 Q6XPS3 TPTE2_HUMAN Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA. 405 C2 tensin-type. endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.N404S(1) NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) ACCACGAATCGAATAAATAAT 0.388000 31 5 0 0 1 0 0 CLPS 1208 broad.mit.edu 37 6 35765004 35765004 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr6:35765004G>A uc003ole.2 - 0 118 c.62C>T c.(61-63)cCc>cTc p.P21L CLPS_uc021yyz.1_5'UTR|CLPS_uc003olf.2_Missense_Mutation_p.P21L NM_001832 NP_001823 P04118 COL_HUMAN Homo sapiens colipase, pancreatic (CLPS), transcript variant 1, mRNA. 21 lipid catabolic process|lipid digestion|retinoid metabolic process|steroid metabolic process extracellular region large_intestine(2)|lung(2)|prostate(1) 5 GATCCCCCGGGGGCCAGGAGC 0.587000 115 17 0 0 1 0 0 ELAC2 60528 broad.mit.edu 37 17 12896253 12896253 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr17:12896253C>T uc002gnz.4 - 23 2480 c.2363G>A c.(2362-2364)cGg>cAg p.R788Q ELAC2_uc002gnu.4_Missense_Mutation_p.R185Q|ELAC2_uc002gnv.4_Missense_Mutation_p.R416Q|ELAC2_uc002gnx.4_Missense_Mutation_p.R548Q|ELAC2_uc010vvo.2_Missense_Mutation_p.R586Q|ELAC2_uc010vvp.2_Missense_Mutation_p.R769Q|ELAC2_uc010vvq.2_Missense_Mutation_p.R787Q|ELAC2_uc010vvr.2_Missense_Mutation_p.R748Q NM_018127 NP_060597 Q9BQ52 RNZ2_HUMAN Homo sapiens elaC homolog 2 (E. coli) (ELAC2), transcript variant 1, mRNA. 788 tRNA processing nucleus endonuclease activity|metal ion binding|protein binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1) 23 CCGCACCTGCCGCAGCTCCCG 0.657000 76 24 0 0 1 0 0 ZNF71 58491 broad.mit.edu 37 19 57133335 57133335 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr19:57133335C>T uc002qnm.4 + 2 918 c.680C>T c.(679-681)tCc>tTc p.S227F ZNF71_uc021vcg.1_Missense_Mutation_p.S227F NM_021216 NP_067039 Q9NQZ8 ZNF71_HUMAN Homo sapiens zinc finger protein 71 (ZNF71), mRNA. 227 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 26 GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18) CGGAAGACTTCCTCTCTCACC 0.637000 40 11 0 0 1 0 0 GNAS 2778 broad.mit.edu 37 20 57415683 57415683 + Silent SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr20:57415683C>T uc021wfl.1 + 0 889 c.522C>T c.(520-522)tcC>tcT p.S174S GNAS-AS1_uc002xzs.2_Intron|GNAS_uc002xzt.3_5'UTR|GNAS_uc021wfm.1_Silent_p.S174S|GNAS_uc010gjq.3_5'Flank NM_016592 NP_057676 P63092 GNAS2_HUMAN Homo sapiens GNAS complex locus (GNAS), transcript variant 4, mRNA. 0 G-protein coupled receptor protein signaling pathway|activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane GTP binding|GTPase activity|adenylate cyclase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1) 441 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) CCGACGCCTCCCCAAGTCGCG 0.672000 Mis pituitary adenoma """McCune-Albright syndrome; pseudohypoparathyroidism, type IA""" TSP Lung(22;0.16) 21 6 0 0 1 0 0 TAT 6898 broad.mit.edu 37 16 71602113 71602114 + Missense_Mutation DNP CC TT TT TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr16:71602113_71602114CC>TT uc002fap.2 - 11 1397_1398 c.1298_1299GG>AA c.(1297-1299)cgg>cAA p.R433Q NM_000353 NP_000344 P17735 ATTY_HUMAN Homo sapiens tyrosine aminotransferase (TAT), nuclear gene encoding mitochondrial protein, mRNA. 433 2-oxoglutarate metabolic process|L-phenylalanine catabolic process|glutamate metabolic process|tyrosine catabolic process cytosol 1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3) 29 Ovarian(137;0.125) Kidney(780;0.0157) L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114) ACTCCTGGATCCGGCTGCACGC 0.520000 48 15 0 0 1 0 0 NDRG3 57446 broad.mit.edu 37 20 35299773 35299773 + Missense_Mutation SNP C G G TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr20:35299773C>G uc002xfw.3 - 8 701 c.559G>C c.(559-561)Gac>Cac p.D187H NDRG3_uc002xfx.3_Missense_Mutation_p.D175H|NDRG3_uc010zvq.2_Missense_Mutation_p.D92H|NDRG3_uc010zvr.2_Missense_Mutation_p.D75H NM_032013 NP_114402 Q9UGV2 NDRG3_HUMAN Homo sapiens NDRG family member 3 (NDRG3), transcript variant 1, mRNA. 187 cell differentiation|negative regulation of cell growth|spermatogenesis cytoplasm endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1) 12 Myeloproliferative disorder(115;0.00878) AAAATAATGTCCACAACATTG 0.378000 63 17 0 0 1 0 0 ZNF80 7634 broad.mit.edu 37 3 113955735 113955735 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr3:113955735G>A uc010hqo.3 - 0 691 c.187C>T c.(187-189)Ctc>Ttc p.L63F ZNF80_uc003ebf.3_Non-coding_Transcript NM_007136 NP_009067 P51504 ZNF80_HUMAN Homo sapiens zinc finger protein 80 (ZNF80), mRNA. 63 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2) 32 Lung NSC(201;0.0233)|all_neural(597;0.0837) CGAACAAGGAGGCTGTTTTTG 0.483000 61 15 0 0 1 0 0 BTNL3 10917 broad.mit.edu 37 5 180420145 180420145 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr5:180420145G>A uc003mmr.3 + 1 566 c.382G>A c.(382-384)Gag>Aag p.E128K NM_197975 NP_932079 Q6UXE8 BTNL3_HUMAN Homo sapiens butyrophilin-like 3 (BTNL3), mRNA. 128 lipid metabolic process integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1) 25 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272) GGCCACCTGGGAGCTGCGGGT 0.458000 9 3 0 0 1 0 0 MSH5 4439 broad.mit.edu 37 6 31726370 31726370 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr6:31726370C>T uc003nwu.2 + 13 1317 c.1189C>T c.(1189-1191)Ccc>Tcc p.P397S MSH5_uc003nwx.2_Missense_Mutation_p.P414S|MSH5_uc003nwv.2_Missense_Mutation_p.P397S|MSH5_uc003nww.2_Missense_Mutation_p.P397S|MSH5_uc011dof.1_Missense_Mutation_p.P96S|MSH5_uc003nwy.1_Missense_Mutation_p.P71S|SAPCD1_uc003nwz.4_5'Flank NM_172165 NP_751897 O43196 MSH5_HUMAN Homo sapiens mutS homolog 5 (E. coli) (MSH5), transcript variant 2, mRNA. 397 chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination synaptonemal complex ATP binding|DNA-dependent ATPase activity|mismatched DNA binding breast(1)|ovary(2)|skin(2) 5 CACAGTCCTCCCCAACATAGA 0.532000 Direct reversal of damage;Mismatch excision repair (MMR) 50 10 0 0 1 0 0 C15orf27 123591 broad.mit.edu 37 15 76430089 76430089 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr15:76430089C>T uc002bbq.3 + 2 235 c.80C>T c.(79-81)tCc>tTc p.S27F C15orf27_uc010bkp.3_5'UTR|C15orf27_uc002bbr.3_5'UTR NM_152335 NP_689548 Q2M3C6 CO027_HUMAN Homo sapiens chromosome 15 open reading frame 27 (C15orf27), mRNA. 27 integral to membrane endometrium(1)|large_intestine(1)|lung(10)|pancreas(1) 13 GAGATCATCTCCCAACAAGTA 0.502000 113 33 0 0 1 0 0 NMS 129521 broad.mit.edu 37 2 101097591 101097591 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr2:101097591C>T uc002tan.1 + 7 383 c.376C>T c.(376-378)Cac>Tac p.H126Y NM_001011717 NP_001011717 Q5H8A3 NMS_HUMAN Homo sapiens neuromedin S (NMS), mRNA. 126 neuropeptide signaling pathway|regulation of smooth muscle contraction extracellular region breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1) 14 GTTGCAGGATCACACTGCGAC 0.423000 115 34 0 0 1 0 0 PLA2G12B 84647 broad.mit.edu 37 10 74700940 74700940 + Silent SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr10:74700940G>A uc001jtf.1 - 2 520 c.453C>T c.(451-453)gtC>gtT p.V151V PLA2G12B_uc009xqt.1_Silent_p.V61V|PLA2G12B_uc010qjz.1_Silent_p.V151V NM_032562 NP_115951 Q9BX93 PG12B_HUMAN Homo sapiens phospholipase A2, group XIIB (PLA2G12B), mRNA. 151 lipid catabolic process extracellular region calcium ion binding|phospholipase A2 activity breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2) 9 Prostate(51;0.0198) CCACTTTGGAGACAAAGCCCA 0.498000 90 29 0 0 1 0 0 SMARCA4 6597 broad.mit.edu 37 19 11132428 11132428 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr19:11132428G>A uc010dxp.3 + 19 3004 c.2644G>A c.(2644-2646)Gaa>Aaa p.E882K SMARCA4_uc010dxo.3_Missense_Mutation_p.E882K|SMARCA4_uc002mqf.4_Missense_Mutation_p.E882K|SMARCA4_uc002mqg.1_Missense_Mutation_p.E882K|SMARCA4_uc010dxq.3_Missense_Mutation_p.E882K|SMARCA4_uc010dxr.3_Missense_Mutation_p.E882K|SMARCA4_uc002mqj.4_Missense_Mutation_p.E882K|SMARCA4_uc010dxs.3_Missense_Mutation_p.E882K|SMARCA4_uc010dxt.1_Missense_Mutation_p.E102K|SMARCA4_uc002mqh.4_Missense_Mutation_p.E5K|SMARCA4_uc002mqi.1_Missense_Mutation_p.E85K NM_001128844 NP_003063 P51532 SMCA4_HUMAN Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 (SMARCA4), transcript variant 2, mRNA. 882 Helicase ATP-binding. chromatin remodeling|negative regulation of S phase of mitotic cell cycle|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nuclear chromatin ATP binding|DNA binding|DNA-dependent ATPase activity|androgen receptor binding|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 163 all_lung(6;0.0512)|Lung NSC(9;0.0568) GATTGTGGACGAAGGTCACCG 0.632000 """F, N, Mis""" NSCLC 15 10 0 0 1 0 0 TOX 9760 broad.mit.edu 37 8 59720330 59720330 + Silent SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr8:59720330C>T uc003xtw.1 - 8 1778 c.1557G>A c.(1555-1557)agG>agA p.R519R NM_014729 NP_055544 O94900 TOX_HUMAN Homo sapiens thymocyte selection-associated high mobility group box (TOX), mRNA. 519 nucleus DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1) 33 all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607) GTGCTTTGTCCCTCTGCATGC 0.443000 OREG0018787 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 62 13 0 0 1 0 0 RMND1 55005 broad.mit.edu 37 6 151766735 151766735 + Missense_Mutation SNP T C C TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr6:151766735T>C uc003qoi.2 - 1 392 c.212A>G c.(211-213)aAc>aGc p.N71S RMND1_uc011eeq.1_5'Flank|RMND1_uc003qoj.3_Missense_Mutation_p.N71S|RMND1_uc011eer.1_Missense_Mutation_p.N71S NM_017909 NP_060379 Q9NWS8 RMND1_HUMAN Homo sapiens required for meiotic nuclear division 1 homolog (S. cerevisiae) (RMND1), mRNA. 71 central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 Ovarian(120;0.125) BRCA - Breast invasive adenocarcinoma(37;0.146) OV - Ovarian serous cystadenocarcinoma(155;6.8e-11) CTTTTTTTGGTTCATTTCCAG 0.413000 164 67 0 0 1 0 0 PRKCB 5579 broad.mit.edu 37 16 24105562 24105562 + Silent SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr16:24105562C>T uc002dmd.3 + 6 962 c.765C>T c.(763-765)ttC>ttT p.F255F PRKCB_uc002dme.3_Silent_p.F255F NM_212535 NP_997700 P05771 KPCB_HUMAN Homo sapiens protein kinase C, beta (PRKCB), transcript variant 1, mRNA. 255 C2. B cell activation|B cell receptor signaling pathway|apoptosis|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent cytosol|nucleus|plasma membrane ATP binding|androgen receptor binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3) 9 Vitamin E(DB00163) GGAATGACTTCATGGGATCTT 0.423000 87 24 0 0 1 0 0 RAG2 5897 broad.mit.edu 37 11 36615273 36615273 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr11:36615273C>T uc021qge.1 - 0 446 c.446G>A c.(445-447)gGg>gAg p.G149E RAG2_uc021qgc.1_Missense_Mutation_p.G149E|RAG2_uc021qgd.1_Missense_Mutation_p.G149E|RAG2_uc001mwv.4_Missense_Mutation_p.G149E|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank|C11orf74_uc010rfd.2_5'Flank NM_001243786 NP_001230715 P55895 RAG2_HUMAN Homo sapiens recombination activating gene 2 (RAG2), transcript variant 4, mRNA. 149 T cell differentiation in thymus|V(D)J recombination|chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins nucleus DNA binding|chromatin binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4) 32 all_lung(20;0.226) all_hematologic(20;0.00756) CATACTTTTCCCTCGGCTGTA 0.453000 Familial Hemophagocytic Lymphohistiocytosis 125 26 0 0 1 0 0 SPAM1 6677 broad.mit.edu 37 7 123594119 123594119 + Silent SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr7:123594119G>A uc003vle.3 + 2 934 c.495G>A c.(493-495)aaG>aaA p.K165K SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vld.3_Silent_p.K165K|SPAM1_uc022aks.1_Silent_p.K165K|SPAM1_uc003vlf.4_Silent_p.K165K|SPAM1_uc010lku.3_Silent_p.K165K NM_003117 NP_003108 P38567 HYALP_HUMAN Homo sapiens sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) (SPAM1), transcript variant 1, mRNA. 165 binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane anchored to membrane|plasma membrane hyalurononglucosaminidase activity breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 Hyaluronidase(DB00070) ATGTTTACAAGAATAGGTCTA 0.393000 85 20 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141796173 141796173 + Silent SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr7:141796173C>T uc003vwy.3 + 41 5016 c.4962C>T c.(4960-4962)ttC>ttT p.F1654F NM_004668 NP_004659 O43451 MGA_HUMAN Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA. 1654 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) ACAGTCAGTTCCTGCTGGGCC 0.592000 58 11 0 0 1 0 0 FAT2 2196 broad.mit.edu 37 5 150923154 150923154 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr5:150923154G>A uc003lue.4 - 8 7547 c.7534C>T c.(7534-7536)Ccc>Tcc p.P2512S NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA. 2512 Cadherin 22. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GTGCCATAGGGACCACTATCT 0.438000 147 42 0 0 1 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140774693 140774693 + Silent SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr5:140774693C>T uc003lkd.2 + 0 3211 c.2313C>T c.(2311-2313)ccC>ccT p.P771P PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_Silent_p.P771P|PCDHGC5_uc003lkc.2_Intron NM_032088 NP_114477 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 8 (PCDHGA8), transcript variant 1, mRNA. 780 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGATCTTTCCCCAGCCCAACT 0.483000 86 18 0 0 1 0 0 ARMC9 80210 broad.mit.edu 37 2 232087527 232087527 + Silent SNP A G G TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr2:232087527A>G uc002vrq.4 + 5 703 c.591A>G c.(589-591)acA>acG p.T197T ARMC9_uc002vrp.4_Silent_p.T197T NM_025139 NP_079415 Q7Z3E5 ARMC9_HUMAN Homo sapiens armadillo repeat containing 9 (ARMC9), mRNA. 197 binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205) Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189) AGCTTTTAACAATATATGTAT 0.363000 38 8 0 0 1 0 0 ATP1A3 478 broad.mit.edu 37 19 42471468 42471468 + Silent SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr19:42471468G>A uc002osh.3 - 21 3100 c.2946C>T c.(2944-2946)ttC>ttT p.F982F ATP1A3_uc010xwf.2_Silent_p.F993F|ATP1A3_uc010xwg.2_Silent_p.F952F|ATP1A3_uc002osg.3_Silent_p.F982F|ATP1A3_uc010xwh.2_Silent_p.F995F P13637 AT1A3_HUMAN Homo sapiens ATPase, Na+/K+ transporting, alpha 3 polypeptide (ATP1A3), transcript variant 1, mRNA. 982 F -> S (in Ref. 2; CAA31390). ATP biosynthetic process Golgi apparatus|endoplasmic reticulum ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 52 AACTGTAGGGGAAGGCACAGA 0.637000 25 17 0 0 1 0 0 DICER1 23405 broad.mit.edu 37 14 95579448 95579448 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr14:95579448G>A uc001ydw.2 - 12 2233 c.2021C>T c.(2020-2022)cCt>cTt p.P674L DICER1_uc021sbc.1_Missense_Mutation_p.P674L|DICER1_uc001ydv.2_Missense_Mutation_p.P664L|DICER1_uc001ydx.2_Missense_Mutation_p.P674L|DICER1_uc021sbd.1_5'Flank NM_030621 NP_803187 Q9UPY3 DICER_HUMAN Homo sapiens dicer 1, ribonuclease type III (DICER1), transcript variant 2, mRNA. 674 Dicer dsRNA-binding fold. negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of Schwann cell differentiation|positive regulation of myelination|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference RNA-induced silencing complex|cytosol ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3) 75 all_cancers(154;0.0621)|all_epithelial(191;0.223) Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215) GGCTCGAAGAGGTGAGTTAAT 0.363000 """Mis F, N""" """sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma""" pleuropulmonary blastoma Familial Multinodular Goiter ;DICER 1 syndrome 56 13 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61847989 61847989 + Silent SNP T C C TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr10:61847989T>C uc001jky.3 - 28 3794 c.3456A>G c.(3454-3456)ggA>ggG p.G1152G ANK3_uc001jkw.3_Silent_p.G286G|ANK3_uc009xpa.3_Silent_p.G286G|ANK3_uc001jkx.3_Silent_p.G330G|ANK3_uc010qih.2_Silent_p.G1153G|ANK3_uc001jkz.4_Silent_p.G1146G|ANK3_uc001jla.1_Silent_p.G218G|ANK3_uc001jlb.1_Silent_p.G670G NM_020987 NP_066267 Q12955 ANK3_HUMAN Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA. 1152 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 TGCTCAGAATTCCACCTTCAG 0.468000 117 24 0 0 1 0 0 PIWIL4 143689 broad.mit.edu 37 11 94322335 94322335 + Silent SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr11:94322335G>A uc001pfa.3 + 7 1174 c.963G>A c.(961-963)aaG>aaA p.K321K PIWIL4_uc010rue.1_Non-coding_Transcript|PIWIL4_uc009ywk.2_Non-coding_Transcript NM_152431 NP_689644 Q7Z3Z4 PIWL4_HUMAN Homo sapiens piwi-like 4 (Drosophila) (PIWIL4), mRNA. 321 PAZ. DNA methylation involved in gamete generation|cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis nucleus|piP-body piRNA binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2) 30 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) GGTCAGTGAAGCCCACACACA 0.388000 72 9 0 0 1 0 0 DHCR7 1717 broad.mit.edu 37 11 71152365 71152365 + Silent SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr11:71152365G>A uc001oqk.3 - 5 784 c.534C>T c.(532-534)atC>atT p.I178I DHCR7_uc001oql.3_Silent_p.I178I NM_001163817 NP_001351 Q9UBM7 DHCR7_HUMAN Homo sapiens 7-dehydrocholesterol reductase (DHCR7), transcript variant 2, mRNA. 178 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane 7-dehydrocholesterol reductase activity|protein binding endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1) 19 NADH(DB00157) ACAGCAGTGGGATCCAGTTGT 0.577000 Smith-Lemli-Opitz syndrome 59 18 0 0 1 0 0 ATP13A2 23400 broad.mit.edu 37 1 17326973 17326973 + Silent SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr1:17326973G>A uc001baa.2 - 8 952 c.762C>T c.(760-762)gaC>gaT p.D254D ATP13A2_uc001bac.2_Silent_p.D249D|ATP13A2_uc001bab.2_Silent_p.D249D|ATP13A2_uc009vpa.1_5'Flank|ATP13A2_uc001bad.1_5'UTR NM_022089 NP_071372 Q9NQ11 AT132_HUMAN Homo sapiens ATPase type 13A2 (ATP13A2), transcript variant 1, mRNA. 254 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182) AGTAGTAGTGGTCAGCCAGCC 0.617000 15 19 0 0 1 0 0 CPA3 1359 broad.mit.edu 37 3 148600313 148600313 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr3:148600313C>T uc003ewm.3 + 7 761 c.709C>T c.(709-711)Cgt>Tgt p.R237C NM_001870 NP_001861 P15088 CBPA3_HUMAN Homo sapiens carboxypeptidase A3 (mast cell) (CPA3), mRNA. 237 proteolysis stored secretory granule|transport vesicle metallocarboxypeptidase activity|zinc ion binding NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 35 LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115) GAGAAAAAATCGTTCCAAGAA 0.383000 47 14 0 0 1 0 0 CALCOCO1 57658 broad.mit.edu 37 12 54107625 54107625 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr12:54107625G>A uc001sef.3 - 12 1795 c.1651C>T c.(1651-1653)Ccc>Tcc p.P551S CALCOCO1_uc001see.3_Missense_Mutation_p.P52S|CALCOCO1_uc010som.2_Missense_Mutation_p.P466S|CALCOCO1_uc010son.2_Missense_Mutation_p.P428S|CALCOCO1_uc009znd.3_Missense_Mutation_p.P551S|CALCOCO1_uc001seg.3_Missense_Mutation_p.P376S|CALCOCO1_uc001seh.2_Missense_Mutation_p.P551S NM_020898 NP_065949 Q9P1Z2 CACO1_HUMAN Homo sapiens calcium binding and coiled-coil domain 1 (CALCOCO1), transcript variant 1, mRNA. 551 C-terminal AD (CTNNB1 binding site) (By similarity). Wnt receptor signaling pathway|steroid hormone receptor signaling pathway|transcription, DNA-dependent cytoplasm armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 28 AGGCCATAGGGTGGGAGCCTC 0.587000 81 27 0 0 1 0 0 SAMD7 344658 broad.mit.edu 37 3 169654229 169654229 + Nonsense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr3:169654229C>T uc003fgd.3 + 7 1411 c.1144C>T c.(1144-1146)Cag>Tag p.Q382* SAMD7_uc003fge.3_Nonsense_Mutation_p.Q382*|SAMD7_uc011bpo.2_Nonsense_Mutation_p.Q283* NM_182610 NP_872416 Q7Z3H4 SAMD7_HUMAN Homo sapiens sterile alpha motif domain containing 7 (SAMD7), mRNA. 382 SAM. NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106) ACTAAAAATTCAGTCACAGGT 0.318000 54 15 0 0 1 0 0 SLC25A17 10478 broad.mit.edu 37 22 41195056 41195056 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr22:41195056G>A uc003azc.3 - 1 226 c.86C>T c.(85-87)cCc>cTc p.P29L SLC25A17_uc010gyg.3_Non-coding_Transcript|SLC25A17_uc011aou.2_5'UTR|SLC25A17_uc003azd.3_Non-coding_Transcript|SLC25A17_uc011aov.2_Missense_Mutation_p.P29L NM_006358 NP_006349 O43808 PM34_HUMAN Homo sapiens solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17 (SLC25A17), nuclear gene encoding mitochondrial protein, mRNA. 29 fatty acid alpha-oxidation integral to plasma membrane|mitochondrial inner membrane|peroxisomal membrane adenine nucleotide transmembrane transporter activity|protein binding central_nervous_system(1)|large_intestine(4)|lung(2)|skin(1) 8 TGTATCCAGGGGAAAAAACAC 0.363000 30 17 0 0 1 0 0 CCT8L2 150160 broad.mit.edu 37 22 17071989 17071989 + Silent SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr22:17071989C>T uc002zlp.1 - 0 1712 c.1452G>A c.(1450-1452)ggG>ggA p.G484G NM_014406 NP_055221 Q96SF2 TCPQM_HUMAN Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA. 484 cellular protein metabolic process cytoplasm ATP binding|anion channel activity|calcium-activated potassium channel activity breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1) 67 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) CATTTATTATCCCTTCAGTTC 0.527000 149 42 0 0 1 0 0 LZTS1 11178 broad.mit.edu 37 8 20110389 20110389 + Silent SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr8:20110389G>A uc003wzr.3 - 1 1164 c.1053C>T c.(1051-1053)agC>agT p.S351S LZTS1_uc010ltg.2_Silent_p.S351S NM_021020 NP_066300 Q9Y250 LZTS1_HUMAN Homo sapiens leucine zipper, putative tumor suppressor 1 (LZTS1), mRNA. 351 cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter Golgi apparatus|cell junction|dendritic spine|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1) 29 Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207) CCTTCATGAGGCTCTCGAGCT 0.652000 31 22 0 0 1 0 0 OLAH 55301 broad.mit.edu 37 10 15115107 15115107 + Missense_Mutation SNP G A A rs139895854 TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr10:15115107G>A uc001int.2 + 8 1090 c.836G>A c.(835-837)gGa>gAa p.G279E ACBD7_uc010qby.1_Intron|OLAH_uc001inu.2_Missense_Mutation_p.G226E NM_018324 NP_060794 Q9NV23 SAST_HUMAN Homo sapiens oleoyl-ACP hydrolase (OLAH), transcript variant 1, mRNA. 226 fatty acid biosynthetic process myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity endometrium(2)|large_intestine(1)|lung(14)|stomach(1) 18 GTAACCAGTGGAAATGCTAAA 0.353000 55 13 0 0 1 0 0 DMXL2 23312 broad.mit.edu 37 15 51839578 51839578 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr15:51839578G>A uc010ufy.2 - 6 820 c.595C>T c.(595-597)Cct>Tct p.P199S DMXL2_uc002abf.3_Missense_Mutation_p.P199S|DMXL2_uc010bfa.3_Missense_Mutation_p.P199S NM_001174116 NP_001167587 Q8TDJ6 DMXL2_HUMAN Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA. 199 cell junction|synaptic vesicle membrane Rab GTPase binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 101 all cancers(107;0.00494) CCAGTCATAGGATACCACACT 0.323000 52 9 0 0 1 0 0 ADNP 23394 broad.mit.edu 37 20 49509384 49509384 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr20:49509384G>A uc002xvt.1 - 4 2212 c.1867C>T c.(1867-1869)Ctt>Ttt p.L623F ADNP_uc002xvu.1_Missense_Mutation_p.L623F NM_015339 NP_852107 Q9H2P0 ADNP_HUMAN Homo sapiens activity-dependent neuroprotector homeobox (ADNP), transcript variant 1, mRNA. 623 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2) 39 AGAGGACAAAGGGTTTTCCCA 0.443000 240 80 0 0 1 0 0 ZIM3 114026 broad.mit.edu 37 19 57647171 57647171 + Silent SNP T C C TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr19:57647171T>C uc002qnz.1 - 4 920 c.534A>G c.(532-534)tcA>tcG p.S178S NM_052882 NP_443114 Q96PE6 ZIM3_HUMAN Homo sapiens zinc finger, imprinted 3 (ZIM3), mRNA. 178 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 52 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GGCGTGACTTTGAACTGAATA 0.408000 157 49 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34080130 34080130 + Nonsense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr1:34080130C>T uc001bxm.1 - 39 6284 c.6107G>A c.(6106-6108)tGg>tAg p.W2036* CSMD2_uc001bxn.1_Nonsense_Mutation_p.W1996*|CSMD2_uc001bxo.1_Nonsense_Mutation_p.W909* NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA. 1996 CUB 12. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) TGCTATTTTCCAGGAGCAGTC 0.567000 17 12 0 0 1 0 0 TNFRSF17 608 broad.mit.edu 37 16 12061681 12061681 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr16:12061681G>A uc002dbv.3 + 2 750 c.532G>A c.(532-534)Gag>Aag p.E178K TNFRSF17_uc010buy.3_3'UTR|TNFRSF17_uc010buz.3_Missense_Mutation_p.E129K NM_001192 NP_001183 Q02223 TNR17_HUMAN Homo sapiens tumor necrosis factor receptor superfamily, member 17 (TNFRSF17), mRNA. 178 cell proliferation|multicellular organismal development endomembrane system|integral to membrane|plasma membrane large_intestine(3)|lung(3) 6 TACGGAGATAGAGAAATCAAT 0.433000 T IL2 intestinal T-cell lymphoma 55 16 0 0 1 0 0 CPSF1 29894 broad.mit.edu 37 8 145619714 145619714 + Silent SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr8:145619714C>T uc003zcj.3 - 31 3699 c.3624G>A c.(3622-3624)acG>acA p.T1208T MIR939_uc022bcn.1_5'Flank NM_013291 NP_037423 Q10570 CPSF1_HUMAN Homo sapiens cleavage and polyadenylation specific factor 1, 160kDa (CPSF1), mRNA. 1208 mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex mRNA 3'-UTR binding|protein binding p.T1208T(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055) TGTAGAGCTGCGTGTCGATGA 0.622000 15 12 0 0 1 0 0 VIL1 7429 broad.mit.edu 37 2 219301314 219301314 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr2:219301314G>A uc002vib.3 + 14 1958 c.1936G>A c.(1936-1938)Gag>Aag p.E646K VIL1_uc010zke.2_Missense_Mutation_p.E335K|VIL1_uc002via.3_Missense_Mutation_p.E646K NM_007127 NP_009058 P09327 VILI_HUMAN Homo sapiens villin 1 (VIL1), mRNA. 646 Core. actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Renal(207;0.0474) Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TGACTTGGAAGAGGATGATGT 0.557000 144 40 0 0 1 0 0 ZFP91 80829 broad.mit.edu 37 11 58347022 58347022 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr11:58347022G>A uc001nmx.4 + 0 436 c.268G>A c.(268-270)Gac>Aac p.D90N LPXN_uc010rkj.2_5'Flank|LPXN_uc010rkk.2_5'Flank|ZFP91_uc001nmy.4_Missense_Mutation_p.D90N|CNTF_uc010rkm.2_Non-coding_Transcript NM_053023 NP_444251 Q96JP5 ZFP91_HUMAN Homo sapiens zinc finger protein 91 homolog (mouse) (ZFP91), transcript variant 1, mRNA. 90 activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination nucleus nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 26 Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24) CAGGCCTCCCGACGTCCCCGG 0.731000 6 3 0 0 1 0 0 UHRF1BP1 54887 broad.mit.edu 37 6 34825568 34825568 + Silent SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr6:34825568C>T uc003oju.4 + 12 1875 c.1641C>T c.(1639-1641)ctC>ctT p.L547L UHRF1BP1_uc010jvm.2_Non-coding_Transcript|UHRF1BP1_uc010jvn.3_Non-coding_Transcript|UHRF1BP1_uc010jvo.3_5'Flank NM_017754 NP_060224 Q6BDS2 URFB1_HUMAN Homo sapiens UHRF1 binding protein 1 (UHRF1BP1), mRNA. 547 breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 54 TCAGTTTGCTCTGGGGAAACC 0.423000 101 40 0 0 1 0 0 HECW2 57520 broad.mit.edu 37 2 197183995 197183995 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr2:197183995G>A uc002utm.1 - 8 1802 c.1619C>T c.(1618-1620)tCc>tTc p.S540F HECW2_uc002utl.1_Missense_Mutation_p.S184F NM_020760 NP_065811 Q9P2P5 HECW2_HUMAN Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA. 540 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 113 TGCAGGTAAGGAGCTCTCTGC 0.562000 54 16 0 0 1 0 0 MGA 23269 broad.mit.edu 37 15 42035012 42035012 + Silent SNP T A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr15:42035012T>A uc010ucy.2 + 14 5035 c.4854T>A c.(4852-4854)atT>atA p.I1618I MGA_uc010ucz.2_Intron|MGA_uc010uda.1_Silent_p.I234I NM_001164273 NP_001157745 Q8IWI9 MGAP_HUMAN Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA. 1618 Thr-rich. MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) TGACTGCTATTTCTGACGTGG 0.453000 90 20 0 0 1 0 0 NLRP7 199713 broad.mit.edu 37 19 55449566 55449566 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr19:55449566G>A uc002qih.4 - 4 2051 c.1975C>T c.(1975-1977)Cgc>Tgc p.R659C NLRP7_uc010esk.3_Missense_Mutation_p.R659C|NLRP7_uc002qig.4_Intron|NLRP7_uc002qii.4_Missense_Mutation_p.R659C|NLRP7_uc010esl.3_Missense_Mutation_p.R687C NM_206828 NP_996611 Q8WX94 NALP7_HUMAN Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA. 659 ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) CGAAGAGAGCGAAGATCCTGC 0.498000 112 22 0 0 1 0 0 SORL1 6653 broad.mit.edu 37 11 121477623 121477623 + Missense_Mutation SNP G T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr11:121477623G>T uc001pxx.3 + 35 5147 c.5018G>T c.(5017-5019)tGg>tTg p.W1673L SORL1_uc010rzp.1_Missense_Mutation_p.W519L|SORL1_uc010rzq.1_Missense_Mutation_p.W288L NM_003105 NP_003096 Q92673 SORL_HUMAN Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA. 1673 Fibronectin type-III 2. cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2) 91 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) GTAGGCCACTGGGCTCCTCCC 0.517000 125 43 1.8453e-21 1.89119e-21 1 1 0 HUWE1 10075 broad.mit.edu 37 X 53563559 53563559 + Silent SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chrX:53563559G>A uc004dsp.3 - 78 12609 c.12207C>T c.(12205-12207)atC>atT p.I4069I HUWE1_uc004dsn.3_Silent_p.I2877I NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA. 4069 HECT. base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity p.V4068A(1) NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 TCTCTCGAGAGATGATCATAT 0.483000 51 28 0 0 1 0 0 RILP 83547 broad.mit.edu 37 17 1552937 1552937 + Silent SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr17:1552937C>T uc002ftd.3 - 0 456 c.162G>A c.(160-162)ctG>ctA p.L54L NM_031430 NP_113618 Q96NA2 RILP_HUMAN Homo sapiens Rab interacting lysosomal protein (RILP), mRNA. 54 endosome to lysosome transport|protein transport late endosome membrane|lysosomal membrane|phagocytic vesicle membrane Rab GTPase binding endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4) 15 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) CTAGCGGCACCAGCCCGGCCG 0.736000 8 2 0 0 1 0 0 CYP4F8 11283 broad.mit.edu 37 19 15730487 15730487 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr19:15730487C>T uc002nbi.3 + 4 503 c.439C>T c.(439-441)Cac>Tac p.H147Y CYP4F8_uc010xoi.1_3'UTR|CYP4F8_uc010xoj.2_Intron NM_007253 NP_009184 P98187 CP4F8_HUMAN Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 8 (CYP4F8), mRNA. 147 prostaglandin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1) 26 GTGGAGACACCACCGTCGCTT 0.502000 42 7 0 0 1 0 0 GGT5 2687 broad.mit.edu 37 22 24621549 24621549 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr22:24621549C>T uc002zzp.4 - 8 1718 c.1301G>A c.(1300-1302)cGa>cAa p.R434Q GGT5_uc002zzo.4_Missense_Mutation_p.R434Q|GGT5_uc002zzr.4_Missense_Mutation_p.R402Q|GGT5_uc002zzq.4_Missense_Mutation_p.R402Q|GGT5_uc011ajm.2_Missense_Mutation_p.R357Q NM_001099781 NP_001093251 P36269 GGT5_HUMAN Homo sapiens gamma-glutamyltransferase 5 (GGT5), transcript variant 1, mRNA. 434 glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process integral to membrane|plasma membrane acyltransferase activity|gamma-glutamyltransferase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3) 28 CCGGGGGCATCGCTCGCATAA 0.647000 38 9 0 0 1 0 0 ANKRD30B 374860 broad.mit.edu 37 18 14763957 14763957 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr18:14763957G>A uc010dlo.2 + 6 1273 c.1093G>A c.(1093-1095)Gaa>Aaa p.E365K ANKRD30B_uc010xak.2_Non-coding_Transcript|ANKRD30B_uc021uhy.1_Missense_Mutation_p.E365K NM_001145029 NP_001138501 Q9BXX2 AN30B_HUMAN Homo sapiens ankyrin repeat domain 30B (ANKRD30B), mRNA. 365 breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1) 22 CACATGGGAGGAAAAAGAAAC 0.368000 19 3 0 0 1 0 0 LOC440040 440040 broad.mit.edu 37 11 49598250 49598250 + Silent SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr11:49598250C>T uc010rhy.2 + 1 841 c.363C>T c.(361-363)tcC>tcT p.S121S LOC440040_uc009ymb.3_Silent_p.S121S Homo sapiens glutamate receptor, metabotropic 5 pseudogene (LOC440040), non-coding RNA. GGCCTGGTTCCAGTTCTGTAG 0.498000 36 5 0 0 1 0 0 DGAT2 84649 broad.mit.edu 37 11 75508220 75508220 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr11:75508220C>T uc001oxa.3 + 5 911 c.652C>T c.(652-654)Cgg>Tgg p.R218W DGAT2_uc001oxb.3_Missense_Mutation_p.R175W NM_032564 NP_115953 Q96PD7 DGAT2_HUMAN Homo sapiens diacylglycerol O-acyltransferase 2 (DGAT2), transcript variant 1, mRNA. 218 glycerol metabolic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane diacylglycerol O-acyltransferase activity endometrium(3)|large_intestine(5)|lung(5)|prostate(2)|skin(2) 17 Ovarian(111;0.103) CCCTGTCAGCCGGGACACCAT 0.552000 127 31 0 0 1 0 0 FAT1 2195 broad.mit.edu 37 4 187510253 187510253 + Silent SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr4:187510253G>A uc003izf.3 - 26 13448 c.13260C>T c.(13258-13260)atC>atT p.I4420I FAT1_uc010isn.3_Silent_p.I67I NM_005245 NP_005236 Q14517 FAT1_HUMAN Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA. 4420 actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 AGTCCGTATCGATGGCGTTTG 0.537000 HNSCC(5;0.00058) 244 60 0 0 1 0 0 PRSS35 167681 broad.mit.edu 37 6 84234034 84234034 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr6:84234034G>A uc003pjz.3 + 1 1114 c.874G>A c.(874-876)Gaa>Aaa p.E292K PRSS35_uc010kbm.3_Missense_Mutation_p.E292K|PRSS35_uc021zce.1_Missense_Mutation_p.E292K NM_153362 NP_699193 Q8N3Z0 PRS35_HUMAN Homo sapiens protease, serine, 35 (PRSS35), transcript variant 2, mRNA. 292 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity p.M291T(1) breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 32 all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0768) GAAATACATGGAACTTGGAAT 0.488000 71 27 0 0 1 0 0 TEX9 374618 broad.mit.edu 37 15 56681579 56681579 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr15:56681579G>A uc002adp.3 + 5 381 c.376G>A c.(376-378)Gga>Aga p.G126R TEX9_uc010ugl.2_Missense_Mutation_p.G51R|TEX9_uc002adq.1_Missense_Mutation_p.G51R NM_198524 NP_940926 Q8N6V9 TEX9_HUMAN Homo sapiens testis expressed 9 (TEX9), mRNA. 126 cervix(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1) 14 all cancers(107;0.0394)|GBM - Glioblastoma multiforme(80;0.056) TGCAAATAAAGGAAGGAAAAC 0.274000 30 6 0 0 1 0 0 CLCN6 1185 broad.mit.edu 37 1 11887244 11887244 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr1:11887244C>T uc001ate.4 + 9 919 c.806C>T c.(805-807)tCg>tTg p.S269L CLCN6_uc009vnf.1_Silent_p.F272F|CLCN6_uc009vng.1_Silent_p.F260F|CLCN6_uc009vnh.1_Missense_Mutation_p.S269L|CLCN6_uc010oat.2_5'UTR|CLCN6_uc010oau.2_Missense_Mutation_p.S247L NM_001286 NP_001277 P51797 CLCN6_HUMAN Homo sapiens chloride channel 6 (CLCN6), transcript variant ClC-6a, mRNA. 269 cell volume homeostasis|signal transduction endosome membrane|integral to membrane ATP binding|antiporter activity|voltage-gated chloride channel activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4) 36 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) GAGGAGGGTTCGTCCTTCTGG 0.552000 38 9 0 0 1 0 0 PPP1R13L 10848 broad.mit.edu 37 19 45898706 45898706 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr19:45898706G>A uc002pbn.3 - 6 1419 c.1342C>T c.(1342-1344)Cct>Tct p.P448S PPP1R13L_uc002pbm.3_5'Flank|PPP1R13L_uc002pbo.3_Missense_Mutation_p.P448S|PPP1R13L_uc002pbp.2_Missense_Mutation_p.P448S NM_006663 NP_006654 Q8WUF5 IASPP_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 13 like (PPP1R13L), transcript variant 2, mRNA. 448 Pro-rich. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus transcription corepressor activity|transcription factor binding breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0182) TCGTTCACAGGGGGCCATGTC 0.642000 0 2 0 0 1 0 0 ABCA13 154664 broad.mit.edu 37 7 48316106 48316106 + Silent SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr7:48316106G>A uc003toq.2 + 16 6867 c.6843G>A c.(6841-6843)gaG>gaA p.E2281E ABCA13_uc010kyr.2_Silent_p.E1784E|ABCA13_uc022acp.1_Silent_p.E780E NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA. 2281 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 AAGATTCTGAGAACAAAATAT 0.338000 21 10 0 0 1 0 0 MEFV 4210 broad.mit.edu 37 16 3293320 3293320 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr16:3293320C>T uc002cun.1 - 9 2207 c.2167G>A c.(2167-2169)Gac>Aac p.D723N MEFV_uc021tbw.1_3'UTR|MEFV_uc021tbx.1_Missense_Mutation_p.D303N|MEFV_uc021tby.1_Missense_Mutation_p.D226N|MEFV_uc021tbz.1_Missense_Mutation_p.D142N|MEFV_uc021tca.1_Non-coding_Transcript|MEFV_uc021tcb.1_3'UTR NM_000243 NP_000234 O15553 MEFV_HUMAN Homo sapiens Mediterranean fever (MEFV), transcript variant 1, mRNA. 723 B30.2/SPRY. inflammatory response cytoplasm|microtubule|microtubule associated complex|nucleus actin binding|zinc ion binding p.D723N(2) NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6) 50 Colchicine(DB01394) ACTCTGTAGTCCACGAAGATG 0.517000 99 29 0 0 1 0 0 ACAN 176 broad.mit.edu 37 15 89392937 89392937 + Silent SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr15:89392937C>T uc010upo.1 + 9 2375 c.2001C>T c.(1999-2001)tcC>tcT p.S667S ACAN_uc002bmx.3_Silent_p.S667S|ACAN_uc010upp.1_Silent_p.S667S|ACAN_uc002bna.2_Non-coding_Transcript NM_013227 NP_037359 E7EX88 E7EX88_HUMAN Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA. 667 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) ACCCACTGTCCCGGCACCATG 0.632000 17 4 0 0 1 0 0 CACNA1A 773 broad.mit.edu 37 19 13445223 13445223 + Silent SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr19:13445223G>A uc002mwy.3 - 7 1403 c.1167C>T c.(1165-1167)ctC>ctT p.L389L CACNA1A_uc010xnd.2_Silent_p.L389L|CACNA1A_uc021ups.1_Silent_p.L389L|CACNA1A_uc010xne.2_Silent_p.L389L|CACNA1A_uc010dze.2_Silent_p.L389L|CACNA1A_uc021upt.1_Silent_p.L389L NM_001127222 NP_001120694 O00555 CAC1A_HUMAN Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA. 389 Binding to the beta subunit (By similarity). L -> F (in EA2; dbSNP:rs121908239). cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) TGTACCCATTGAGCTCACGTT 0.542000 64 17 0 0 1 0 0 RFX2 5990 broad.mit.edu 37 19 6040081 6040081 + Silent SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr19:6040081G>A uc002meb.3 - 4 701 c.432C>T c.(430-432)atC>atT p.I144I RFX2_uc002mec.3_Silent_p.I144I|RFX2_uc010xiy.1_Silent_p.I99I NM_000635 NP_000626 P48378 RFX2_HUMAN Homo sapiens regulatory factor X, 2 (influences HLA class II expression) (RFX2), transcript variant 1, mRNA. 144 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 21 CGCTGGAGACGATGGGGCTCC 0.692000 22 10 0 0 1 0 0 CTCFL 140690 broad.mit.edu 37 20 56094421 56094421 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr20:56094421G>A uc010giw.1 - 3 878 c.767C>T c.(766-768)aCc>aTc p.T256I CTCFL_uc010gix.1_Missense_Mutation_p.T256I|CTCFL_uc002xym.2_Missense_Mutation_p.T256I|CTCFL_uc010gjb.1_Missense_Mutation_p.T256I|CTCFL_uc010gja.1_Missense_Mutation_p.T256I|CTCFL_uc010gjc.1_Missense_Mutation_p.T256I|CTCFL_uc010gjd.1_Missense_Mutation_p.T256I|CTCFL_uc010gje.3_Missense_Mutation_p.T256I|CTCFL_uc010gjg.3_5'UTR|CTCFL_uc010gjf.3_Missense_Mutation_p.T51I|CTCFL_uc010gjh.2_Missense_Mutation_p.T256I|CTCFL_uc010gji.2_Missense_Mutation_p.T51I|CTCFL_uc010gjj.2_Missense_Mutation_p.T256I|CTCFL_uc021wfe.1_Missense_Mutation_p.T256I|CTCFL_uc021wff.1_Non-coding_Transcript|CTCFL_uc021wfg.1_5'UTR|CTCFL_uc010gjk.1_Missense_Mutation_p.T256I|CTCFL_uc010gjl.1_Missense_Mutation_p.T256I NM_080618 NP_542185 Q8NI51 CTCFL_HUMAN Homo sapiens CCCTC-binding factor (zinc finger protein)-like (CTCFL), mRNA. 256 DNA methylation involved in gamete generation|cell cycle|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent cytoplasm|nucleus histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07) ACAGTGGAAGGTTCCTTTTGC 0.388000 139 43 0 0 1 0 0 POLQ 10721 broad.mit.edu 37 3 121215771 121215771 + Missense_Mutation SNP G A A rs142688084 byFrequency TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr3:121215771G>A uc003eee.4 - 13 2291 c.2162C>T c.(2161-2163)aCc>aTc p.T721I NM_199420 NP_955452 O75417 DPOLQ_HUMAN Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA. 721 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|DNA-directed DNA polymerase activity|damaged DNA binding|single-stranded DNA-dependent ATPase activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 GBM - Glioblastoma multiforme(114;0.0915) CACAAGACTGGTGAAAAACCT 0.388000 DNA polymerases (catalytic subunits) 57 11 0 0 1 0 0 GRIN2A 2903 broad.mit.edu 37 16 10274089 10274089 + Silent SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr16:10274089C>T uc010uym.2 - 2 490 c.180G>A c.(178-180)gcG>gcA p.A60A GRIN2A_uc002czo.4_Silent_p.A60A|GRIN2A_uc002czr.4_Silent_p.A60A|GRIN2A_uc010buk.3_Silent_p.A60A NM_000833 NP_001127879 Q12879 NMDE1_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA. 60 response to ethanol N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding p.A60V(1) NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GCAGCCCCGCCGCCTGCTCGG 0.652000 74 22 0 0 1 0 0 TNIP3 79931 broad.mit.edu 37 4 122085294 122085294 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr4:122085294C>T uc021xrj.1 - 3 297 c.218G>A c.(217-219)gGa>gAa p.G73E TNIP3_uc010ing.3_5'UTR|TNIP3_uc011cgj.2_Missense_Mutation_p.G66E|TNIP3_uc010ini.3_5'UTR NM_001244764 NP_001231693 Q96KP6 TNIP3_HUMAN Homo sapiens TNFAIP3 interacting protein 3 (TNIP3), transcript variant 3, mRNA. 77 NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2) 24 AGCTGTTTTTCCTGGAGTCTT 0.388000 64 15 0 0 1 0 0 TRPM2 7226 broad.mit.edu 37 21 45819255 45819255 + Silent SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr21:45819255G>A uc010gpt.1 + 13 2239 c.2139G>A c.(2137-2139)ggG>ggA p.G713G TRPM2_uc002zet.1_Silent_p.G713G|TRPM2_uc002zeu.1_Silent_p.G713G|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Silent_p.G713G|TRPM2_uc002zex.1_Silent_p.G499G|TRPM2_uc002zey.1_Silent_p.G226G NM_003307 NP_003298 O94759 TRPM2_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA. 713 integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 AGGCCTGGGGGAAGACCACCT 0.627000 42 12 0 0 1 0 0 PNLDC1 154197 broad.mit.edu 37 6 160240298 160240298 + Silent SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr6:160240298C>T uc003qsy.1 + 17 1485 c.1446C>T c.(1444-1446)atC>atT p.I482I PNLDC1_uc003qsx.1_Silent_p.I471I NM_173516 NP_775787 Q8NA58 PNDC1_HUMAN Homo sapiens poly(A)-specific ribonuclease (PARN)-like domain containing 1 (PNLDC1), mRNA. 471 integral to membrane|nucleus nucleic acid binding autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 31 Breast(66;0.00519)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06) CGCGGAACATCCTGAAGGAGT 0.602000 47 12 0 0 1 0 0 ABCC3 8714 broad.mit.edu 37 17 48755183 48755183 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr17:48755183G>A uc002isl.3 + 23 3537 c.3457G>A c.(3457-3459)Gag>Aag p.E1153K ABCC3_uc002isn.3_5'Flank NM_003786 NP_003777 O15438 MRP3_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA. 1153 ABC transmembrane type-1 2. bile acid metabolic process integral to plasma membrane|membrane fraction ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Glibenclamide(DB01016) CCACTTTTCGGAGACAGTGAC 0.537000 186 57 0 0 1 0 0 PRR23B 389151 broad.mit.edu 37 3 138738986 138738986 + Missense_Mutation SNP C T T rs141791557 byFrequency TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr3:138738986C>T uc003esy.1 - 0 783 c.518G>A c.(517-519)gGc>gAc p.G173D NM_001013650 NP_001013672 Q6ZRT6 PR23B_HUMAN Homo sapiens proline rich 23B (PRR23B), mRNA. 173 p.G173S(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 AGCGGCTGAGCCGGTTGGGGA 0.647000 37 18 0 0 1 0 0 GUCA1C 9626 broad.mit.edu 37 3 108627001 108627001 + Silent SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr3:108627001C>T uc003dxj.2 - 3 566 c.498G>A c.(496-498)ctG>ctA p.L166L GUCA1C_uc003dxk.2_Missense_Mutation_p.G180R NM_005459 NP_005450 O95843 GUC1C_HUMAN Homo sapiens guanylate cyclase activator 1C (GUCA1C), mRNA. 166 signal transduction|visual perception calcium ion binding|calcium sensitive guanylate cyclase activator activity endometrium(2)|large_intestine(1)|liver(1)|lung(8)|pancreas(1)|skin(1) 14 AAACAATCTCCAGGAGATCCT 0.408000 58 15 0 0 1 0 0 ABCC2 1244 broad.mit.edu 37 10 101557015 101557016 + Missense_Mutation DNP CC TT TT TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr10:101557015_101557016CC>TT uc001kqf.2 + 6 933_934 c.794_795CC>TT c.(793-795)tcc>tTT p.S265F NM_000392 NP_000383 Q92887 MRP2_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 2 (ABCC2), mRNA. 265 apical plasma membrane|integral to plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 67 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) GAGAAGAGCTCCCagcagaact 0.520000 36 9 0 0 1 0 0 IMPG2 50939 broad.mit.edu 37 3 100963506 100963506 + Missense_Mutation SNP A C C TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr3:100963506A>C uc003duq.2 - 12 1872 c.1669T>G c.(1669-1671)Tct>Gct p.S557A IMPG2_uc011bhe.2_Missense_Mutation_p.S420A NM_016247 NP_057331 Q9BZV3 IMPG2_HUMAN Homo sapiens interphotoreceptor matrix proteoglycan 2 (IMPG2), mRNA. 557 visual perception integral to membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 TATGGTGAAGATGTTAAGGAC 0.408000 122 40 0 0 1 0 0 EPHA1 2041 broad.mit.edu 37 7 143095983 143095983 + Silent SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr7:143095983G>A uc003wcz.3 - 5 1134 c.1047C>T c.(1045-1047)tcC>tcT p.S349S NM_005232 NP_005223 P21709 EPHA1_HUMAN Homo sapiens EPH receptor A1 (EPHA1), mRNA. 349 Fibronectin type-III 1. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3) 51 Melanoma(164;0.205) Myeloproliferative disorder(862;0.0255) CCCAACGCAGGGAGAGCTGAG 0.637000 26 4 0 0 1 0 0 PKD1L1 168507 broad.mit.edu 37 7 47853608 47853608 + Missense_Mutation SNP C A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr7:47853608C>A uc003tny.2 - 47 7128 c.7094G>T c.(7093-7095)gGa>gTa p.G2365V C7orf69_uc003tnz.4_Intron|C7orf69_uc003toa.1_Intron|PKD1L1_uc003tob.3_Missense_Mutation_p.G92V NM_138295 NP_612152 Q8TDX9 PK1L1_HUMAN Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA. 2365 cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 TCCAAGAGCTCCAGGCTGAAA 0.458000 34 12 0.00010058 0.000101096 1 1 0 MSH5 4439 broad.mit.edu 37 6 31730276 31730276 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr6:31730276G>A uc003nwu.2 + 24 2604 c.2476G>A c.(2476-2478)Gaa>Aaa p.E826K MSH5_uc003nwx.2_Missense_Mutation_p.E813K|MSH5_uc003nwv.2_Missense_Mutation_p.E825K|MSH5_uc003nww.2_Missense_Mutation_p.E825K|MSH5_uc011dof.1_Missense_Mutation_p.E524K|MSH5_uc003nwy.1_Missense_Mutation_p.E469K|SAPCD1_uc003nwz.4_5'UTR NM_172165 NP_751897 O43196 MSH5_HUMAN Homo sapiens mutS homolog 5 (E. coli) (MSH5), transcript variant 2, mRNA. 825 chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination synaptonemal complex ATP binding|DNA-dependent ATPase activity|mismatched DNA binding breast(1)|ovary(2)|skin(2) 5 CATGAGCCAGGAAGTGCTGCC 0.507000 Direct reversal of damage;Mismatch excision repair (MMR) 50 15 0 0 1 0 0 LHCGR 3973 broad.mit.edu 37 2 48936112 48936112 + Missense_Mutation SNP G A A rs149917479 TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr2:48936112G>A uc002rwu.4 - 7 725 c.655C>T c.(655-657)Cgt>Tgt p.R219C STON1-GTF2A1L_uc021vhf.1_Intron|LHCGR_uc002rwv.2_Non-coding_Transcript NM_000233 NP_000224 P22888 LSHR_HUMAN Homo sapiens luteinizing hormone/choriogonadotropin receptor (LHCGR), mRNA. 219 male genitalia development|male gonad development endosome|integral to plasma membrane luteinizing hormone receptor activity p.R219H(2) NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 56 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032) GTGGCCCCACGGAAGGCTCCA 0.542000 114 30 0 0 1 0 0 PROL1 58503 broad.mit.edu 37 4 71275418 71275418 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr4:71275418C>T uc003hfi.3 + 2 547 c.373C>T c.(373-375)Cct>Tct p.P125S NM_021225 NP_067048 Q99935 PROL1_HUMAN Homo sapiens proline rich, lacrimal 1 (PROL1), mRNA. 125 Pro-rich. regulation of sensory perception of pain extracellular region endopeptidase inhibitor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3) 15 all_hematologic(202;0.196) ACCCCCATTTCCTCCTATTCC 0.413000 112 36 0 0 1 0 0 PAPPA 5069 broad.mit.edu 37 9 118982375 118982375 + Nonsense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr9:118982375G>A uc004bjn.3 + 4 2459 c.2078G>A c.(2077-2079)tGg>tAg p.W693* PAPPA_uc011lxp.1_Nonsense_Mutation_p.W388*|PAPPA_uc011lxq.2_Intron NM_002581 NP_002572 Q13219 PAPP1_HUMAN Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA. 693 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding p.W693*(1) NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 ACACTGGAGTGGTTCCCACCT 0.562000 156 37 0 0 1 0 0 DPP10 57628 broad.mit.edu 37 2 115200379 115200379 + Silent SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr2:115200379C>T uc002tla.2 + 0 481 c.24C>T c.(22-24)tcC>tcT p.S8S NM_020868 NP_001171507 Q8N608 DPP10_HUMAN Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 1, mRNA. 8 Mediates effects on KCND2. proteolysis integral to membrane|membrane fraction serine-type peptidase activity breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1) 101 CCAGCGTGTCCCATCACATCA 0.473000 41 13 0 0 1 0 0 OR5D18 219438 broad.mit.edu 37 11 55587703 55587703 + Silent SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr11:55587703C>T uc010rin.2 + 0 598 c.598C>T c.(598-600)Cta>Tta p.L200L NM_001001952 NP_001001952 Q8NGL1 OR5DI_HUMAN Homo sapiens olfactory receptor, family 5, subfamily D, member 18 (OR5D18), mRNA. 200 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L199L(1) NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_epithelial(135;0.208) CCAGTGGCTGCTATTCTTTCT 0.408000 112 29 0 0 1 0 0 SLC22A17 51310 broad.mit.edu 37 14 23817418 23817419 + Missense_Mutation DNP GG AA AA TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr14:23817418_23817419GG>AA uc001wjl.3 - 4 1026_1027 c.789_790CC>TT c.(787-792)aaccgg>aaTTgg p.R264W SLC22A17_uc010akk.3_Missense_Mutation_p.R46W|SLC22A17_uc001wjm.3_Missense_Mutation_p.R264W|SLC22A17_uc001wjn.3_Non-coding_Transcript NM_020372 NP_065105 Q8WUG5 S22AH_HUMAN Homo sapiens solute carrier family 22, member 17 (SLC22A17), transcript variant 1, mRNA. 264 siderophore transport integral to organelle membrane|integral to plasma membrane|vacuolar membrane transmembrane receptor activity|transmembrane transporter activity breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 15 all_cancers(95;7.12e-06) GBM - Glioblastoma multiforme(265;0.00643) CCATGGGGCCGGTTTCGCTCAG 0.614000 70 20 0 0 1 0 0 FAM75D1 389763 broad.mit.edu 37 9 84609948 84609948 + Silent SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr9:84609948G>A uc004amn.3 + 3 4610 c.4563G>A c.(4561-4563)agG>agA p.R1521R NM_001001670 NP_001001670 Q6ZQQ2 F75D1_HUMAN Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA. 1521 integral to membrane cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(57)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 88 TGCCCCACAGGAAGCCTGTGC 0.537000 25 5 0 0 1 0 0 PROKR2 128674 broad.mit.edu 37 20 5294605 5294605 + Silent SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr20:5294605G>A uc010zqw.2 - 0 419 c.411C>T c.(409-411)gtC>gtT p.V137V PROKR2_uc010zqx.2_Silent_p.V137V|PROKR2_uc010zqy.2_Silent_p.V137V|AX746654_uc002wly.1_5'Flank NM_144773 NP_658986 Q8NFJ6 PKR2_HUMAN Homo sapiens prokineticin receptor 2 (PROKR2), mRNA. 137 integral to membrane|plasma membrane neuropeptide Y receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 53 CGTAGAGGGAGACGGTGCGCA 0.612000 HNSCC(71;0.22) 35 10 0 0 1 0 0 B3GNT4 79369 broad.mit.edu 37 12 122691281 122691281 + Silent SNP G T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr12:122691281G>T uc001ubx.3 + 2 701 c.483G>T c.(481-483)gtG>gtT p.V161V B3GNT4_uc001uby.3_Silent_p.V136V NM_030765 NP_110392 Q9C0J1 B3GN4_HUMAN Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 (B3GNT4), mRNA. 161 protein glycosylation Golgi membrane|integral to membrane galactosyltransferase activity NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 13 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222) TCCTAGGGGTGGCAGGATCCG 0.637000 47 19 3.32936e-07 3.36373e-07 1 1 0 RBBP6 5930 broad.mit.edu 37 16 24578724 24578724 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr16:24578724C>T uc002dmh.3 + 14 2890 c.1850C>T c.(1849-1851)tCa>tTa p.S617L RBBP6_uc010vcb.1_Missense_Mutation_p.S484L|RBBP6_uc002dmi.3_Missense_Mutation_p.S617L|RBBP6_uc010bxr.3_Intron|RBBP6_uc002dmk.3_Missense_Mutation_p.S484L NM_006910 NP_008841 Q7Z6E9 RBBP6_HUMAN Homo sapiens retinoblastoma binding protein 6 (RBBP6), transcript variant 1, mRNA. 617 protein ubiquitination involved in ubiquitin-dependent protein catabolic process chromosome|nucleolus|ubiquitin ligase complex nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1) 46 GBM - Glioblastoma multiforme(48;0.0518) CCTTGGGTATCATCAGGAGTG 0.507000 201 49 0 0 1 0 0 FAM83G 644815 broad.mit.edu 37 17 18874996 18874996 + Silent SNP T A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr17:18874996T>A uc002guw.3 - 5 2315 c.2148A>T c.(2146-2148)ggA>ggT p.G716G SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron NM_001039999 NP_001035088 A6ND36 FA83G_HUMAN Homo sapiens family with sequence similarity 83, member G (FAM83G), mRNA. 716 central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1) 22 ACCTAGGGGGTCCTGGGAAGC 0.622000 44 16 0 0 1 0 0 ATP2B4 493 broad.mit.edu 37 1 203708954 203708954 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr1:203708954C>T uc001gzw.3 + 20 4487 c.3590C>T c.(3589-3591)tCt>tTt p.S1197F ATP2B4_uc001gzv.3_3'UTR|ATP2B4_uc001gzx.3_Missense_Mutation_p.S264F|ATP2B4_uc009xar.3_3'UTR NM_001684 NP_001675 P23634 AT2B4_HUMAN Homo sapiens ATPase, Ca++ transporting, plasma membrane 4 (ATP2B4), transcript variant 2, mRNA. 1233 ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3) 56 all_cancers(21;0.071)|all_epithelial(62;0.228) BRCA - Breast invasive adenocarcinoma(75;0.109) TCGGACAGCTCTCTACAGAGC 0.458000 26 37 0 0 1 0 0 P2RY12 64805 broad.mit.edu 37 3 151055902 151055902 + Silent SNP T A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr3:151055902T>A uc003eyw.1 - 1 948 c.732A>T c.(730-732)gtA>gtT p.V244V MED12L_uc003eyp.3_Intron|MED12L_uc011bnz.2_Intron|P2RY12_uc011boa.2_3'UTR|P2RY12_uc003eyx.1_Silent_p.V244V|P2RY12_uc021xga.1_Silent_p.V244V NM_176876 NP_795345 Q9H244 P2Y12_HUMAN Homo sapiens purinergic receptor P2Y, G-protein coupled, 12 (P2RY12), transcript variant 2, mRNA. 244 platelet activation integral to membrane|plasma membrane guanyl-nucleotide exchange factor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1) 17 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) Clopidogrel(DB00758)|Epoprostenol(DB01240)|Ticlopidine(DB00208)|Treprostinil(DB00374) AAATAAAGAATACAGCAATGA 0.413000 56 31 0 0 1 0 0 LOC285501 285501 broad.mit.edu 37 4 178897055 178897055 + RNA SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr4:178897055G>A uc010iru.3 + 4 c.720G>A Homo sapiens uncharacterized LOC285501 (LOC285501), non-coding RNA. all_lung(41;6.03e-08)|Lung NSC(41;4.26e-07)|Breast(14;0.00066)|Melanoma(52;0.00168)|Prostate(90;0.0129)|all_hematologic(60;0.0202)|Renal(120;0.0246)|Colorectal(36;0.0508)|Hepatocellular(41;0.236) all cancers(43;9.24e-25)|Epithelial(43;6.28e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.29e-10)|LUSC - Lung squamous cell carcinoma(1;2.61e-05)|Lung(1;3.22e-05)|GBM - Glioblastoma multiforme(59;0.000185)|Colorectal(24;0.000244)|STAD - Stomach adenocarcinoma(60;0.000777)|COAD - Colon adenocarcinoma(29;0.000884) AGAGCCTACAGAATGTGTCTG 0.398000 110 32 0 0 1 0 0 ADAM18 8749 broad.mit.edu 37 8 39535042 39535042 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr8:39535042C>T uc003xni.3 + 14 1673 c.1618C>T c.(1618-1620)Cct>Tct p.P540S ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Missense_Mutation_p.P516S NM_014237 NP_055052 Q9Y3Q7 ADA18_HUMAN Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA. 540 Cys-rich. cell differentiation|multicellular organismal development|proteolysis|spermatogenesis integral to membrane|membrane fraction metalloendopeptidase activity|zinc ion binding NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3) 71 all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112) LUSC - Lung squamous cell carcinoma(45;0.000199) ACAACCATTACCTTGTGAACG 0.308000 25 22 0 0 1 0 0 PAPPA 5069 broad.mit.edu 37 9 119115986 119115986 + Nonsense_Mutation SNP A T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr9:119115986A>T uc004bjn.3 + 16 4642 c.4261A>T c.(4261-4263)Aaa>Taa p.K1421* PAPPA_uc011lxq.2_Nonsense_Mutation_p.K796* NM_002581 NP_002572 Q13219 PAPP1_HUMAN Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA. 1421 Sushi 4. cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 ACCTCCACCAAAATTCCATGG 0.527000 92 32 0 0 1 0 0 IP6K3 117283 broad.mit.edu 37 6 33690964 33690964 + Splice_Site SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr6:33690964C>T uc010jvf.2 - 7 1302 c.766_splice c.e7-1 p.V256_splice IP6K3_uc003ofb.2_Splice_Site_p.V256_splice NM_001142883 NP_473452 Q96PC2 IP6K3_HUMAN Homo sapiens inositol hexakisphosphate kinase 3 (IP6K3), transcript variant 2, mRNA. 256 inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation cytoplasm ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity skin(1) 1 GTTTGATAAACCTTACATTAA 0.358000 33 8 0 0 1 0 0 PDE8A 5151 broad.mit.edu 37 15 85666319 85666319 + Silent SNP G T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr15:85666319G>T uc002blh.3 + 18 2169 c.1980G>T c.(1978-1980)ggG>ggT p.G660G PDE8A_uc021stv.1_Silent_p.G588G|PDE8A_uc002bli.3_Silent_p.G614G|PDE8A_uc010bnc.3_Silent_p.G413G|PDE8A_uc010bnd.3_Silent_p.G413G|PDE8A_uc002blj.3_Silent_p.G280G|PDE8A_uc002blk.3_Silent_p.G280G|PDE8A_uc002bll.3_Silent_p.G12G NM_002605 NP_001230066 O60658 PDE8A_HUMAN Homo sapiens phosphodiesterase 8A (PDE8A), transcript variant 1, mRNA. 660 Catalytic (By similarity). cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 25 Colorectal(223;0.227) BRCA - Breast invasive adenocarcinoma(143;0.0608) TGCGCCAGGGGATTATCGACA 0.423000 76 16 1.5739e-10 1.60047e-10 1 1 0 RFX6 222546 broad.mit.edu 37 6 117245850 117245850 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr6:117245850G>A uc003pxm.3 + 14 1637 c.1574G>A c.(1573-1575)cGa>cAa p.R525Q NM_173560 NP_775831 Q8HWS3 RFX6_HUMAN Homo sapiens regulatory factor X, 6 (RFX6), mRNA. 525 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding p.R525Q(2)|p.R525*(1) cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 59 CATTTGATTCGAATGCTTCTC 0.383000 86 20 0 0 1 0 0 SLIT3 6586 broad.mit.edu 37 5 168123363 168123363 + Missense_Mutation SNP C T T rs142215582 byFrequency TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr5:168123363C>T uc010jjg.3 - 27 3457 c.3037G>A c.(3037-3039)Gaa>Aaa p.E1013K SLIT3_uc003mab.3_Missense_Mutation_p.E1006K NM_003062 NP_003053 O75094 SLIT3_HUMAN Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA. 1006 EGF-like 3. Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus extracellular space|mitochondrion Roundabout binding|calcium ion binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GCATTGTTTTCGCAGTCGTTG 0.547000 92 18 0 0 1 0 0 MTMR7 9108 broad.mit.edu 37 8 17218782 17218782 + Splice_Site SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr8:17218782C>T uc003wxm.3 - 4 550 c.311_splice c.e4-1 p.V104_splice NM_004686 NP_004677 Q9Y216 MTMR7_HUMAN Homo sapiens myotubularin related protein 7 (MTMR7), mRNA. 104 protein tyrosine phosphatase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 32 Colorectal(111;0.112) CCTCATATTTCACTGCAAGAA 0.443000 72 37 0 0 1 0 0 TMEM132A 54972 broad.mit.edu 37 11 60696363 60696363 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr11:60696363G>A uc001nqi.3 + 3 990 c.797G>A c.(796-798)cGg>cAg p.R266Q TMEM132A_uc001nqj.3_Missense_Mutation_p.R266Q|TMEM132A_uc001nqk.3_Missense_Mutation_p.R279Q|TMEM132A_uc001nql.1_Missense_Mutation_p.R279Q NM_017870 NP_060340 Q24JP5 T132A_HUMAN Homo sapiens transmembrane protein 132A (TMEM132A), transcript variant 1, mRNA. 266 Golgi membrane|endoplasmic reticulum membrane|integral to membrane breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3) 32 ATGCCAGTGCGGCCCGGCCAG 0.672000 61 15 0 0 1 0 0 DFNB31 25861 broad.mit.edu 37 9 117185767 117185767 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr9:117185767G>A uc004biy.4 - 6 944 c.304C>T c.(304-306)Ccg>Tcg p.P102S DFNB31_uc004bix.3_Missense_Mutation_p.P134S|DFNB31_uc004biz.4_Missense_Mutation_p.P485S|DFNB31_uc004bja.4_Missense_Mutation_p.P485S NM_001083885 NP_001077354 Q9P202 WHRN_HUMAN Homo sapiens deafness, autosomal recessive 31 (DFNB31), transcript variant 2, mRNA. 485 inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound cytoplasm|growth cone|stereocilium central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 AGGTCTTGCGGGGAAATGGTG 0.632000 73 17 0 0 1 0 0 CLCA4 22802 broad.mit.edu 37 1 87029358 87029358 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr1:87029358C>T uc009wcs.3 + 3 507 c.463C>T c.(463-465)Cat>Tat p.H155Y CLCA4_uc009wct.3_Intron|CLCA4_uc009wcu.3_Intron NM_012128 NP_036260 Q14CN2 CLCA4_HUMAN Homo sapiens chloride channel accessory 4 (CLCA4), transcript variant 1, mRNA. 155 apical plasma membrane|extracellular region|integral to plasma membrane chloride channel activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 44 Lung NSC(277;0.238) all cancers(265;0.0202)|Epithelial(280;0.0404) ACTGTTTGTCCATGAGTGGGC 0.398000 46 16 0 0 1 0 0 ADRA1A 148 broad.mit.edu 37 8 26722384 26722384 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr8:26722384C>T uc003xfc.1 - 0 539 c.103G>A c.(103-105)Ggc>Agc p.G35S ADRA1A_uc010lul.1_Missense_Mutation_p.G35S|ADRA1A_uc003xfd.1_Non-coding_Transcript|ADRA1A_uc003xfe.1_Missense_Mutation_p.G35S|ADRA1A_uc010lum.1_Missense_Mutation_p.G35S|ADRA1A_uc003xff.1_Non-coding_Transcript|ADRA1A_uc003xfg.1_Missense_Mutation_p.G35S|ADRA1A_uc003xfh.1_Missense_Mutation_p.G35S|ADRA1A_uc022atd.1_Missense_Mutation_p.G35S NM_033303 NP_150646 P35348 ADA1A_HUMAN Homo sapiens adrenergic, alpha-1A-, receptor (ADRA1A), transcript variant 2, mRNA. 35 activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of Rho protein signal transduction|negative regulation of cell proliferation|negative regulation of synaptic transmission, GABAergic|positive regulation of ERK1 and ERK2 cascade|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction integral to plasma membrane alpha1-adrenergic receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1) 36 all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115) Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246) AGAATGAGGCCCCCCAAGATC 0.567000 289 67 0 0 1 0 0 NOTCH3 4854 broad.mit.edu 37 19 15276261 15276261 + Silent SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr19:15276261G>A uc002nan.3 - 30 5809 c.5733C>T c.(5731-5733)atC>atT p.I1911I NM_000435 NP_000426 Q9UM47 NOTC3_HUMAN Homo sapiens notch 3 (NOTCH3), mRNA. 1911 Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 93 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) GGGCCGCCAGGATCAGTGCCG 0.572000 41 11 0 0 1 0 0 STARD13 90627 broad.mit.edu 37 13 33716453 33716453 + Silent SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr13:33716453C>T uc001uuw.3 - 3 507 c.381G>A c.(379-381)agG>agA p.R127R STARD13_uc001uuu.3_Silent_p.R119R|STARD13_uc001uuv.3_Silent_p.R9R|STARD13_uc001uux.3_Silent_p.R92R|STARD13_uc010abh.1_Silent_p.R112R|STARD13_uc021rhz.1_Silent_p.R119R|STARD13_uc021ria.1_Silent_p.R9R NM_178006 NP_443083 Q9Y3M8 STA13_HUMAN Homo sapiens StAR-related lipid transfer (START) domain containing 13 (STARD13), transcript variant 1, mRNA. 127 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|lipid particle|mitochondrial membrane GTPase activator activity|protein binding breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1) 40 all_epithelial(80;0.155) Lung SC(185;0.0367) all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143) CTACCTTTTTCCTTTGGAAGT 0.388000 63 15 0 0 1 0 0 CCT7 10574 broad.mit.edu 37 2 73466833 73466833 + Silent SNP G T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr2:73466833G>T uc002siz.3 + 1 212 c.69G>T c.(67-69)gtG>gtT p.V23V CCT7_uc010yrf.2_5'UTR|CCT7_uc010yrh.2_5'UTR|CCT7_uc010yrg.2_5'UTR|CCT7_uc010yri.2_Intron|CCT7_uc002sja.3_Intron NM_006429 NP_001159757 Q99832 TCPH_HUMAN Homo sapiens chaperonin containing TCP1, subunit 7 (eta) (CCT7), transcript variant 1, mRNA. 23 'de novo' posttranslational protein folding ATP binding|unfolded protein binding breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1) 7 CCCAGCTTGTGAGTAACATCA 0.468000 32 7 0.000157383 0.000157989 1 1 0 CDC42BPB 9578 broad.mit.edu 37 14 103412809 103412809 + Silent SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr14:103412809G>A uc001ymi.1 - 27 3976 c.3744C>T c.(3742-3744)atC>atT p.I1248I CDC42BPB_uc001ymj.1_Silent_p.I350I NM_006035 NP_006026 Q9Y5S2 MRCKB_HUMAN Homo sapiens CDC42 binding protein kinase beta (DMPK-like) (CDC42BPB), mRNA. 1248 CNH. actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm|cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1) 49 Melanoma(154;0.155) Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199) ACGTACCCACGATGGCAGCTG 0.547000 53 9 0 0 1 0 0 SLC1A6 6511 broad.mit.edu 37 19 15079115 15079115 + Splice_Site SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr19:15079115C>T uc002naa.1 - 3 555 c.548_splice c.e3+1 p.R183_splice SLC1A6_uc010dzu.1_Splice_Site_p.R183_splice|SLC1A6_uc010xod.1_Intron|SLC1A6_uc002nab.3_Splice_Site_p.R183_splice|SLC1A6_uc002nac.3_Splice_Site_p.R183_splice|SLC1A6_uc002nad.1_Splice_Site_p.R183_splice NM_005071 NP_005062 P48664 EAA4_HUMAN Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA. 183 synaptic transmission integral to plasma membrane|membrane fraction L-aspartate transmembrane transporter activity|high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 42 L-Glutamic Acid(DB00142) gttggcaCACCTGATCAGGTC 0.507000 11 3 0 0 1 0 0 ARHGEF40 55701 broad.mit.edu 37 14 21555550 21555551 + Missense_Mutation DNP CC TT TT TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr14:21555550_21555551CC>TT uc001vzp.3 + 20 4344_4345 c.4315_4316CC>TT c.(4315-4317)ccg>TTg p.P1439L ARHGEF40_uc010aij.3_Non-coding_Transcript|ARHGEF40_uc010tln.2_Intron NM_018071 NP_060541 Q8TER5 ARH40_HUMAN Homo sapiens Rho guanine nucleotide exchange factor (GEF) 40 (ARHGEF40), mRNA. 1439 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2) 9 CGGCCTTTCGCCGGGAGCCTGC 0.698000 58 20 0 0 1 0 0 C15orf42 90381 broad.mit.edu 37 15 90167737 90167737 + Missense_Mutation SNP A C C TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr15:90167737A>C uc002boe.3 + 19 4196 c.4196A>C c.(4195-4197)cAg>cCg p.Q1399P C15orf42_uc021sug.1_Missense_Mutation_p.Q1398P NM_152259 NP_689472 Q7Z2Z1 TICRR_HUMAN Homo sapiens chromosome 15 open reading frame 42 (C15orf42), mRNA. 1399 DNA repair|DNA replication|G2/M transition checkpoint|cell cycle|formation of translation preinitiation complex|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation nucleus chromatin binding|protein binding NS(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(21)|ovary(6)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 59 Lung NSC(78;0.0237)|all_lung(78;0.0478) BRCA - Breast invasive adenocarcinoma(143;0.128) GTGGAGTGTCAGCCTGATGCC 0.577000 132 40 0 0 1 0 0 GIMAP8 155038 broad.mit.edu 37 7 150164323 150164323 + Silent SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr7:150164323C>T uc003whj.3 + 1 867 c.537C>T c.(535-537)atC>atT p.I179I NM_175571 NP_783161 Q8ND71 GIMA8_HUMAN Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA. 179 Golgi apparatus|endoplasmic reticulum|mitochondrion GTP binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) ATGAGCAGATCACCCAGGTGT 0.438000 107 45 0 0 1 0 0 KIF1C 10749 broad.mit.edu 37 17 4927425 4927425 + Missense_Mutation SNP G T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr17:4927425G>T uc002gan.2 + 22 3648 c.3291G>T c.(3289-3291)aaG>aaT p.K1097N NM_006612 NP_006603 O43896 KIF1C_HUMAN Homo sapiens kinesin family member 1C (KIF1C), mRNA. 1097 microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER Golgi apparatus|endoplasmic reticulum|microtubule ATP binding|microtubule motor activity NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3) 30 CTGACCTCAAGGAGAGTGGGG 0.672000 69 21 3.08376e-08 3.13176e-08 1 1 0 KIAA1841 84542 broad.mit.edu 37 2 61300669 61300669 + Missense_Mutation SNP G C C TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr2:61300669G>C uc002saw.4 + 4 717 c.414G>C c.(412-414)atG>atC p.M138I KIAA1841_uc002sax.4_Intron|KIAA1841_uc002say.3_Missense_Mutation_p.M138I|KIAA1841_uc002sav.4_Missense_Mutation_p.M138I NM_001129993 NP_001123465 Q6NSI8 K1841_HUMAN Homo sapiens KIAA1841 (KIAA1841), transcript variant 1, mRNA. 138 breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 25 Epithelial(17;0.193) GTGGAGAAATGACTGAAGAAT 0.328000 41 7 0 0 1 0 0 SCN3A 6328 broad.mit.edu 37 2 166019296 166019296 + Missense_Mutation SNP T G G TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr2:166019296T>G uc002ucx.3 - 7 1229 c.737A>C c.(736-738)aAg>aCg p.K246T SCN3A_uc002ucy.3_Missense_Mutation_p.K246T|SCN3A_uc002ucz.3_Missense_Mutation_p.K246T|SCN3A_uc002uda.1_Missense_Mutation_p.K115T|SCN3A_uc002udb.1_Missense_Mutation_p.K115T NM_006922 NP_008853 Q9NY46 SCN3A_HUMAN Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA. 246 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) ATCAGAAAGCTTCTTTACCGA 0.458000 146 20 0 0 1 0 0 PLEC 5339 broad.mit.edu 37 8 144994260 144994260 + Silent SNP C A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr8:144994260C>A uc003zaf.1 - 31 10310 c.10140G>T c.(10138-10140)gtG>gtT p.V3380V PLEC_uc003zab.1_Silent_p.V3243V|PLEC_uc003zac.1_Silent_p.V3247V|PLEC_uc003zad.2_Silent_p.V3243V|PLEC_uc003zae.1_Silent_p.V3211V|PLEC_uc003zag.1_Silent_p.V3221V|PLEC_uc003zah.2_Silent_p.V3229V|PLEC_uc003zaj.2_Silent_p.V3270V NM_201380 NP_958782 Q15149 PLEC_HUMAN Homo sapiens plectin (PLEC), transcript variant 6, mRNA. 3380 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle p.P3379A(1) NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 TGAAGCCACCCACGGGGACCT 0.632000 58 39 6.97489e-18 7.139e-18 1 1 0 DPP3 10072 broad.mit.edu 37 11 66254125 66254125 + Nonsense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr11:66254125C>T uc001oig.1 + 3 537 c.475C>T c.(475-477)Cga>Tga p.R159* DPP3_uc001oif.1_Nonsense_Mutation_p.R159*|DPP3_uc010rpe.1_Nonsense_Mutation_p.R148* NM_005700 NP_569710 Q9NY33 DPP3_HUMAN Homo sapiens dipeptidyl-peptidase 3 (DPP3), transcript variant 1, mRNA. 159 proteolysis cytoplasm aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1) 23 GCCAAGGCTTCGACACCTCGG 0.622000 73 24 0 0 1 0 0 NFATC4 4776 broad.mit.edu 37 14 24845892 24845892 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr14:24845892C>T uc001wpc.3 + 8 2770 c.2449C>T c.(2449-2451)Cct>Tct p.P817S NFATC4_uc010alr.3_Intron|NFATC4_uc010tok.2_Missense_Mutation_p.P880S|NFATC4_uc010tol.2_Missense_Mutation_p.P880S|NFATC4_uc010too.2_Intron|NFATC4_uc010tom.2_Missense_Mutation_p.P830S|NFATC4_uc010ton.2_Missense_Mutation_p.P830S|NFATC4_uc010toq.2_Intron|NFATC4_uc010alt.3_Missense_Mutation_p.P849S|NFATC4_uc010top.2_Missense_Mutation_p.P849S|NFATC4_uc010tor.2_Intron|NFATC4_uc010tos.2_Missense_Mutation_p.P747S|NFATC4_uc010tot.2_Missense_Mutation_p.P805S|NFATC4_uc010tou.2_Missense_Mutation_p.P747S|NFATC4_uc010tov.2_Intron|NFATC4_uc010tow.2_Intron|NFATC4_uc010alv.3_Missense_Mutation_p.P805S|NFATC4_uc010tox.2_Missense_Mutation_p.P747S|NFATC4_uc001wpd.3_Missense_Mutation_p.P352S|NFATC4_uc010toy.2_Intron|NFATC4_uc010toz.2_Missense_Mutation_p.P352S|NFATC4_uc010tpa.2_Missense_Mutation_p.P105S|NFATC4_uc010tpb.2_Missense_Mutation_p.P105S NM_004554 NP_001185895 Q14934 NFAC4_HUMAN Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 (NFATC4), transcript variant 2, mRNA. 817 Pro-rich. cell differentiation|inflammatory response|transcription from RNA polymerase II promoter cytoplasm|intermediate filament cytoskeleton|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2) 34 GBM - Glioblastoma multiforme(265;0.018) GCCTCCTCTTCCTGCATCCCC 0.642000 143 35 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 39016011 39016011 + Missense_Mutation SNP C T T rs147058802 TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr19:39016011C>T uc002oit.3 + 70 10625 c.10495C>T c.(10495-10497)Cgg>Tgg p.R3499W RYR1_uc002oiu.3_Missense_Mutation_p.R3494W|RYR1_uc002oiv.1_Missense_Mutation_p.R414W|RYR1_uc010xuf.1_Missense_Mutation_p.R419W NM_000540 NP_000531 P21817 RYR1_HUMAN Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA. 3499 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GAAGAAGCGCCGGGGGGACCG 0.632000 75 18 0 0 1 0 0 CDHR5 53841 broad.mit.edu 37 11 619080 619080 + Silent SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr11:619080C>T uc001lql.3 - 12 1746 c.1479G>A c.(1477-1479)acG>acA p.T493T CDHR5_uc001lqj.3_Silent_p.T493T|CDHR5_uc009ycd.3_Silent_p.T487T|CDHR5_uc001lqk.3_Intron|CDHR5_uc009ycc.3_Silent_p.T327T NM_021924 NP_068743 Q9HBB8 CDHR5_HUMAN Homo sapiens cadherin-related family member 5 (CDHR5), transcript variant 1, mRNA. 493 calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2) 23 CAGAGCTGGTCGTGGAGGGTC 0.677000 32 12 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61831691 61831691 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr10:61831691G>A uc001jky.3 - 36 9286 c.8948C>T c.(8947-8949)tCg>tTg p.S2983L ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron NM_020987 NP_066267 Q12955 ANK3_HUMAN Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA. 2983 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 TGGAAATGCCGACTGTTCACA 0.418000 67 22 0 0 1 0 0 PITPNA 5306 broad.mit.edu 37 17 1438746 1438746 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr17:1438746G>A uc021tng.1 - 7 779 c.523C>T c.(523-525)Ccc>Tcc p.P175S PITPNA_uc021tnf.1_Missense_Mutation_p.P84S|PITPNA_uc010cjt.3_Missense_Mutation_p.P59S NM_006224 NP_006215 Q00169 PIPNA_HUMAN Homo sapiens phosphatidylinositol transfer protein, alpha (PITPNA), mRNA. 175 axon guidance|lipid metabolic process|visual perception cytoplasm phosphatidylcholine transmembrane transporter activity|phosphatidylinositol transporter activity|protein binding central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1) 7 UCEC - Uterine corpus endometrioid carcinoma (25;0.0845) TTCCAATTGGGGCCCAAGGGT 0.567000 29 7 0 0 1 0 0 PGR 5241 broad.mit.edu 37 11 100933480 100933480 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr11:100933480C>T uc001pgh.2 - 3 2653 c.1910G>A c.(1909-1911)cGa>cAa p.R637Q PGR_uc001pgg.2_Missense_Mutation_p.R18Q|PGR_uc001pgi.2_Intron|PGR_uc009yww.1_Intron|PGR_uc001pgj.2_Non-coding_Transcript|PGR_uc009ywx.1_Non-coding_Transcript NM_000926 NP_000917 P06401 PRGR_HUMAN Homo sapiens progesterone receptor (PGR), transcript variant 2, mRNA. 637 cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 36 Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014) LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164) Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396) TTTAAATTTTCGACCTACAGA 0.358000 48 9 0 0 1 0 0 FAM65B 9750 broad.mit.edu 37 6 24848308 24848308 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr6:24848308G>A uc003neo.1 - 11 1198 c.1022C>T c.(1021-1023)tCc>tTc p.S341F FAM65B_uc011djs.1_Missense_Mutation_p.S370F|FAM65B_uc011dju.2_Missense_Mutation_p.S375F|FAM65B_uc003nep.3_Missense_Mutation_p.S341F|FAM65B_uc011djt.2_Missense_Mutation_p.S341F NM_014722 NP_055537 Q9Y4F9 FA65B_HUMAN Homo sapiens family with sequence similarity 65, member B (FAM65B), transcript variant 1, mRNA. 341 cell differentiation|muscle organ development cytoskeleton|filopodium|mitochondrion binding p.M340I(1) breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 25 GCTGTACATGGACATTCTCCT 0.527000 27 7 0 0 1 0 0 TBC1D9 23158 broad.mit.edu 37 4 141544026 141544026 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr4:141544026C>T uc010ioj.3 - 20 3396 c.3124G>A c.(3124-3126)Gaa>Aaa p.E1042K NM_015130 NP_055945 Q6ZT07 TBCD9_HUMAN Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA. 1042 intracellular Rab GTPase activator activity|calcium ion binding endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 31 all_hematologic(180;0.162) Medulloblastoma(177;0.00498) TTGGGGTCTTCGCTGAACATG 0.527000 8 4 0 0 1 0 0 EIF1AX 1964 broad.mit.edu 37 X 20156729 20156729 + Missense_Mutation SNP T C C TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chrX:20156729T>C uc004czt.3 - 1 236 c.28A>G c.(28-30)Aaa>Gaa p.K10E SCARNA9L_uc010nfp.3_5'Flank NM_001412 NP_001403 P47813 IF1AX_HUMAN Homo sapiens eukaryotic translation initiation factor 1A, X-linked (EIF1AX), mRNA. 10 cytosol translation initiation factor activity endometrium(2)|lung(1)|ovary(1)|prostate(1) 5 CGTCTGTTTTTACCTCCTTTA 0.308000 70 31 0 0 1 0 0 DHODH 1723 broad.mit.edu 37 16 72055184 72055184 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr16:72055184G>A uc002fbp.3 + 4 700 c.679G>A c.(679-681)Gcc>Acc p.A227T NM_001361 NP_001352 Q02127 PYRD_HUMAN Homo sapiens dihydroorotate dehydrogenase (quinone) (DHODH), nuclear gene encoding mitochondrial protein, mRNA. 227 'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|pyrimidine nucleoside biosynthetic process integral to membrane|mitochondrial inner membrane dihydroorotate oxidase activity breast(1)|endometrium(2)|large_intestine(4)|ovary(1)|skin(1)|stomach(1) 10 Ovarian(137;0.125) Atovaquone(DB01117)|Leflunomide(DB01097) TCAGGGAAAGGCCGAGCTGCG 0.682000 14 3 0 0 1 0 0 COL18A1 80781 broad.mit.edu 37 21 46901911 46901911 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr21:46901911C>T uc002zhi.3 + 12 2207 c.2186C>T c.(2185-2187)cCa>cTa p.P729L COL18A1_uc002zhg.3_Missense_Mutation_p.P549L NM_030582 NP_085059 P39060 COIA1_HUMAN Homo sapiens collagen, type XVIII, alpha 1 (COL18A1), transcript variant 1, mRNA. 964 Nonhelical region 1 (NC1). cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception collagen|extracellular space extracellular matrix structural constituent|metal ion binding|protein binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929) GAGGGGCCCCCAGGAAGGACT 0.627000 30 10 0 0 1 0 0 EN1 2019 broad.mit.edu 37 2 119604321 119604321 + Silent SNP C G G TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr2:119604321C>G uc002tlm.3 - 0 1439 c.423G>C c.(421-423)cgG>cgC p.R141R NM_001426 NP_001417 Q05925 HME1_HUMAN Homo sapiens engrailed homeobox 1 (EN1), mRNA. 141 skeletal system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 9 CACGCTCGACCCGGCCTCCTC 0.706000 34 4 0 0 1 0 0 SYT1 6857 broad.mit.edu 37 12 79837979 79837979 + Missense_Mutation SNP A C C TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr12:79837979A>C uc001sys.3 + 10 1726 c.1055A>C c.(1054-1056)cAa>cCa p.Q352P SYT1_uc001syt.3_Missense_Mutation_p.Q352P|SYT1_uc001syu.3_Missense_Mutation_p.Q349P|SYT1_uc001syv.3_Missense_Mutation_p.Q352P NM_001135805 NP_005630 P21579 SYT1_HUMAN Homo sapiens synaptotagmin I (SYT1), transcript variant 2, mRNA. 352 C2 2.|Phospholipid binding (Probable). detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane 1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6) 25 CCTTTTGAACAAATCCAGGTA 0.358000 144 35 0 0 1 0 0 OR5AS1 219447 broad.mit.edu 37 11 55798326 55798326 + Silent SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr11:55798326C>T uc010riw.2 + 0 432 c.432C>T c.(430-432)ttC>ttT p.F144F NM_001001921 NP_001001921 Q8N127 O5AS1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily AS, member 1 (OR5AS1), mRNA. 144 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.C143*(1) endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1) 48 Esophageal squamous(21;0.00693) GTGTCTGCTTCATTGTGTTGG 0.458000 149 40 0 0 1 0 0 HLCS 3141 broad.mit.edu 37 21 38308998 38308998 + Silent SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr21:38308998G>A uc010gnb.3 - 4 2161 c.747C>T c.(745-747)tcC>tcT p.S249S HLCS_uc021wjb.1_Silent_p.S249S|HLCS_uc002yvs.3_Silent_p.S249S|HLCS_uc010gnc.2_Silent_p.S396S NM_001242784 NP_001229713 P50747 BPL1_HUMAN Homo sapiens holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase) (HLCS), transcript variant 3, mRNA. 249 cell proliferation|histone biotinylation|response to biotin chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(46;0.0422) Biotin(DB00121) CAAAGGTGAAGGATGAAGACA 0.522000 41 12 0 0 1 0 0 SIRT5 23408 broad.mit.edu 37 6 13592122 13592122 + Silent SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr6:13592122C>T uc003nay.3 + 4 783 c.471C>T c.(469-471)atC>atT p.I157I SIRT5_uc003naw.3_Silent_p.I157I|SIRT5_uc003nax.3_Silent_p.I49I|SIRT5_uc011dit.2_Silent_p.I157I NM_012241 NP_001229756 Q9NXA8 SIRT5_HUMAN Homo sapiens sirtuin 5 (SIRT5), transcript variant 1, mRNA. 157 Deacetylase sirtuin-type. chromatin silencing|protein ADP-ribosylation|protein deacetylation mitochondrial intermembrane space|mitochondrial matrix NAD+ ADP-ribosyltransferase activity|NAD+ binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|zinc ion binding breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 11 Breast(50;0.00669)|Ovarian(93;0.0634) all_hematologic(90;0.117) Epithelial(50;0.176) Suramin(DB04786) TTCTGGAGATCCATGGTGAGA 0.597000 24 6 0 0 1 0 0 FAM13C 220965 broad.mit.edu 37 10 61011251 61011251 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr10:61011251C>T uc010qif.1 - 12 1850 c.1784G>A c.(1783-1785)cGg>cAg p.R595Q FAM13C_uc010qid.2_Intron|FAM13C_uc001jkn.3_Intron|FAM13C_uc001jko.3_Intron|FAM13C_uc010qie.2_Intron NM_198215 NP_937858 Q8NE31 FA13C_HUMAN Homo sapiens family with sequence similarity 13, member C (FAM13C), transcript variant 1, mRNA. 0 NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 AAAAAGTCACCGTTCCTGCAA 0.358000 44 13 0 0 1 0 0 MYH8 4626 broad.mit.edu 37 17 10295939 10295939 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr17:10295939C>T uc002gmm.2 - 37 5583 c.5488G>A c.(5488-5490)Gaa>Aaa p.E1830K AK097500_uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA. 1830 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 TGTTCATTTTCAACCTCTCCT 0.453000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 151 39 0 0 1 0 0 MACF1 23499 broad.mit.edu 37 1 39788335 39788336 + Missense_Mutation DNP CC TT TT TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr1:39788335_39788336CC>TT uc021olt.1 + 30 4152_4153 c.4100_4101CC>TT c.(4099-4101)tcc>tTT p.S1367F MACF1_uc021ols.1_Missense_Mutation_p.S1367F|MACF1_uc001cdc.2_Missense_Mutation_p.S1367F|MACF1_uc001cda.1_Missense_Mutation_p.S1275F|MACF1_uc009vvq.1_Missense_Mutation_p.S424F|MACF1_uc001cdb.1_Missense_Mutation_p.S454F NM_012090 NP_036222 Q9UPN3 MACF1_HUMAN Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA. 1367 Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing Golgi apparatus|microtubule|ruffle membrane ATPase activity|actin filament binding|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) CAGCAGAAATCCCCTGGCAAGC 0.470000 106 32 0 0 1 0 0 PCNT 5116 broad.mit.edu 37 21 47831650 47831650 + Missense_Mutation SNP C G G TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr21:47831650C>G uc002zji.4 + 27 5770 c.5663C>G c.(5662-5664)tCt>tGt p.S1888C PCNT_uc002zjj.3_Missense_Mutation_p.S1770C NM_006031 NP_006022 O95613 PCNT_HUMAN Homo sapiens pericentrin (PCNT), mRNA. 1888 G2/M transition of mitotic cell cycle|cilium assembly cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) GCGGCCCACTCTGCCGAGCTG 0.667000 35 11 0 0 1 0 0 CTNNA3 29119 broad.mit.edu 37 10 68940116 68940116 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr10:68940116G>A uc009xpn.1 - 6 1129 c.1006C>T c.(1006-1008)Cgc>Tgc p.R336C CTNNA3_uc001jmw.2_Missense_Mutation_p.R336C|CTNNA3_uc001jmx.4_Missense_Mutation_p.R336C|CTNNA3_uc009xpo.1_Missense_Mutation_p.R196C|CTNNA3_uc001jna.2_Missense_Mutation_p.R348C NM_001127384 NP_037398 Q9UI47 CTNA3_HUMAN Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA. 336 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity p.R336C(2) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 95 AGAGCCTGGCGAATGGCGTTG 0.512000 52 19 0 0 1 0 0 ROM1 6094 broad.mit.edu 37 11 62381081 62381081 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr11:62381081G>A uc001ntv.3 + 0 869 c.328G>A c.(328-330)Ggt>Agt p.G110S EML3_uc001ntr.1_5'Flank|EML3_uc001nts.1_5'Flank|EML3_uc001ntt.1_5'Flank|EML3_uc001ntu.1_5'Flank|EML3_uc010rly.1_5'Flank|EML3_uc009yny.1_5'Flank NM_000327 NP_000318 Q03395 ROM1_HUMAN Homo sapiens retinal outer segment membrane protein 1 (ROM1), mRNA. 110 cell adhesion|visual perception integral to plasma membrane central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1) 8 TGGCACGGCTGGTGGGGGGGG 0.682000 18 13 0 0 1 0 0 C17orf104 284071 broad.mit.edu 37 17 42744143 42744143 + Silent SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr17:42744143C>T uc002iha.3 + 4 1084 c.864C>T c.(862-864)taC>taT p.Y288Y C17orf104_uc002igy.1_Silent_p.Y122Y|C17orf104_uc002igz.3_Silent_p.Y122Y|C17orf104_uc010wja.1_Non-coding_Transcript NM_001145080 NP_001138552 A2RUB1 CQ104_HUMAN Homo sapiens chromosome 17 open reading frame 104 (C17orf104), mRNA. 288 autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|skin(1) 24 TTGATATCTACCATTATGGAA 0.353000 33 10 0 0 1 0 0 SMARCA4 6597 broad.mit.edu 37 19 11101966 11101966 + Silent SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr19:11101966C>T uc010dxp.3 + 8 1746 c.1386C>T c.(1384-1386)atC>atT p.I462I SMARCA4_uc010dxo.3_Silent_p.I462I|SMARCA4_uc002mqf.4_Silent_p.I462I|SMARCA4_uc002mqg.1_Silent_p.I462I|SMARCA4_uc010dxq.3_Silent_p.I462I|SMARCA4_uc010dxr.3_Silent_p.I462I|SMARCA4_uc002mqj.4_Silent_p.I462I|SMARCA4_uc010dxs.3_Silent_p.I462I|SMARCA4_uc002mqe.2_Silent_p.I462I NM_001128844 NP_003063 P51532 SMCA4_HUMAN Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 (SMARCA4), transcript variant 2, mRNA. 462 HSA. chromatin remodeling|negative regulation of S phase of mitotic cell cycle|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nuclear chromatin ATP binding|DNA binding|DNA-dependent ATPase activity|androgen receptor binding|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 163 all_lung(6;0.0512)|Lung NSC(9;0.0568) AGCAGAAGATCGAGCAGGAGC 0.667000 """F, N, Mis""" NSCLC 13 3 0 0 1 0 0 STXBP5L 9515 broad.mit.edu 37 3 121137202 121137202 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr3:121137202G>A uc003eec.4 + 26 3457 c.3317G>A c.(3316-3318)gGa>gAa p.G1106E STXBP5L_uc011bji.2_Missense_Mutation_p.G1082E NM_014980 NP_055795 Q9Y2K9 STB5L_HUMAN Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA. 1106 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) GCTTCGGCAGGAAAAGCATCC 0.473000 36 5 0 0 1 0 0 CLCNKA 1187 broad.mit.edu 37 1 16378205 16378205 + Splice_Site SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr1:16378205G>A uc001axx.4 + 14 1434 c.1298_splice c.e14-1 p.G433_splice CLCNKA_uc021ogl.1_Splice_Site_p.G80_splice|CLCNKA_uc021ogm.1_Splice_Site_p.G264_splice|CLCNKA_uc001axy.4_Splice_Site_p.G264_splice NM_000085 NP_000076 P51800 CLCKA_HUMAN Homo sapiens chloride channel Kb (CLCNKB), transcript variant 1, mRNA. 433 excretion chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1) 19 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) Niflumic Acid(DB04552) CTGTGGCCAGGAGCTGCTATC 0.622000 94 35 0 0 1 0 0 LEPREL1 55214 broad.mit.edu 37 3 189705417 189705417 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr3:189705417G>A uc011bsk.2 - 4 1385 c.997C>T c.(997-999)Ctt>Ttt p.L333F LEPREL1_uc003fsg.3_Missense_Mutation_p.L152F NM_018192 NP_001127890 Q8IVL5 P3H2_HUMAN Homo sapiens leprecan-like 1 (LEPREL1), transcript variant 1, mRNA. 333 collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation Golgi apparatus|basement membrane|endoplasmic reticulum L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5) 41 all_cancers(143;4.01e-10)|Ovarian(172;0.0925) Lung(62;4.35e-05) GBM - Glioblastoma multiforme(93;0.02) L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) TGGCATAGAAGATAGGCTTTG 0.463000 77 19 0 0 1 0 0 TCRA 0 broad.mit.edu 37 14 22554979 22554979 + Missense_Mutation SNP T A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr14:22554979T>A uc001wcz.1 + 1 165 c.105T>A c.(103-105)agT>agA p.S35R TCRA_uc001wbw.2_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_5'UTR SubName: Full=HADV23S1; Flags: Fragment; TGAAACAAAGTCCTCAATCTT 0.408000 32 9 0 0 1 0 0 ZAN 7455 broad.mit.edu 37 7 100349913 100349913 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr7:100349913G>A uc003uwj.3 + 13 2350 c.2185G>A c.(2185-2187)Gaa>Aaa p.E729K ZAN_uc003uwk.3_Missense_Mutation_p.E729K|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript NM_003386 NP_003377 Q9Y493 ZAN_HUMAN Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA. 729 66 X heptapeptide repeats (approximate) (mucin-like domain). binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) CATCCCCACAGAAAAATCCAC 0.522000 73 18 0 0 1 0 0 IL1R1 3554 broad.mit.edu 37 2 102791057 102791057 + Silent SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr2:102791057C>T uc002tbq.3 + 9 1320 c.1002C>T c.(1000-1002)ttC>ttT p.F334F IL1R1_uc010fix.3_Silent_p.F334F|IL1R1_uc002tbr.3_Silent_p.F334F NM_000877 NP_000868 P14778 IL1R1_HUMAN Homo sapiens interleukin 1 receptor, type I (IL1R1), mRNA. 334 innate immune response integral to plasma membrane interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3) 19 Anakinra(DB00026) TCACTAATTTCCAGAAGCACA 0.303000 29 12 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178936091 178936091 + Missense_Mutation SNP G A A rs104886003 TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr3:178936091G>A uc003fjk.3 + 9 1790 c.1633G>A c.(1633-1635)Gag>Aag p.E545K NM_006218 NP_006209 P42336 PK3CA_HUMAN Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA. 545 PI3K helical. E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E545K(1952)|p.E545A(96)|p.E545G(79)|p.E545Q(39)|p.E545D(23)|p.E545?(19)|p.E545V(6)|p.(542_545)E>K(4)|p.T544N(3)|p.T544I(1) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TGAAATCACTGAGCAGGAGAA 0.353000 E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS) 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 51 16 0 0 1 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140723673 140723673 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr5:140723673G>A uc003ljm.2 + 0 73 c.73G>A c.(73-75)Gaa>Aaa p.E25K PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Missense_Mutation_p.E25K NM_018916 NP_061739 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA. 23 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GACGCTGTGCGAAACAGGATC 0.567000 OREG0016855 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 176 56 0 0 1 0 0 KCNH7 90134 broad.mit.edu 37 2 163360985 163360985 + Nonsense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr2:163360985G>A uc002uch.2 - 5 1325 c.1096C>T c.(1096-1098)Cga>Tga p.R366* KCNH7_uc002uci.3_Nonsense_Mutation_p.R359* NM_033272 NP_150375 Q9NS40 KCNH7_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA. 366 regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) TTGTGTGTTCGATCTTTAACC 0.373000 126 59 0 0 1 0 0 ZMAT4 79698 broad.mit.edu 37 8 40554830 40554830 + Nonsense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr8:40554830G>A uc003xnr.3 - 3 429 c.283C>T c.(283-285)Caa>Taa p.Q95* ZMAT4_uc003xns.3_Nonsense_Mutation_p.Q95* NM_024645 NP_078921 Q9H898 ZMAT4_HUMAN Homo sapiens zinc finger, matrin-type 4 (ZMAT4), transcript variant 1, mRNA. 95 nucleus DNA binding|zinc ion binding NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 18 Ovarian(28;0.00724)|Colorectal(14;0.0468) all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152) LUSC - Lung squamous cell carcinoma(45;0.00722) ATTTTGCCTTGATAATGGGAA 0.517000 122 31 0 0 1 0 0 GABPA 2551 broad.mit.edu 37 21 27121396 27121396 + Missense_Mutation SNP C G G TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr21:27121396C>G uc002ylx.4 + 3 422 c.272C>G c.(271-273)aCt>aGt p.T91S GABPA_uc002yly.4_Missense_Mutation_p.T91S NM_001197297 NP_001184226 Q06546 GABPA_HUMAN Homo sapiens GA binding protein transcription factor, alpha subunit 60kDa (GABPA), transcript variant 2, mRNA. 91 positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 24 ACAGATGGAACTGTACAGCTT 0.303000 46 13 0 0 1 0 0 C3orf56 285311 broad.mit.edu 37 3 126916098 126916098 + Nonsense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr3:126916098G>A uc003eji.1 + 1 810 c.570G>A c.(568-570)tgG>tgA p.W190* RecName: Full=Putative uncharacterized protein C3orf56; breast(1)|endometrium(2)|kidney(1)|lung(5) 9 GBM - Glioblastoma multiforme(114;0.142) CCTCAGAATGGGCCTCCAGGT 0.622000 29 13 0 0 1 0 0 REG3A 5068 broad.mit.edu 37 2 79384774 79384774 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr2:79384774C>T uc002sod.2 - 3 732 c.384G>A c.(382-384)atG>atA p.M128I REG3A_uc002soe.2_Missense_Mutation_p.M128I|REG3A_uc002sof.2_Missense_Mutation_p.M128I NM_138938 NP_620355 Q06141 REG3A_HUMAN Homo sapiens regenerating islet-derived 3 alpha (REG3A), transcript variant 2, mRNA. 128 C-type lectin. acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development cytoplasm|extracellular space|soluble fraction sugar binding p.V127L(1) breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1) 50 CAAAGTAATTCATCACATCAC 0.547000 93 19 0 0 1 0 0 STATH 6779 broad.mit.edu 37 4 70864163 70864163 + Silent SNP C T T rs144461948 TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr4:70864163C>T uc003heu.1 + 1 119 c.9C>T c.(7-9)ttC>ttT p.F3F STATH_uc003hev.1_Silent_p.F3F NM_003154 NP_003145 P02808 STAT_HUMAN Homo sapiens statherin (STATH), transcript variant 1, mRNA. 3 biomineral tissue development|negative regulation of bone mineralization|ossification|saliva secretion extracellular region extracellular matrix constituent, lubricant activity|hydroxyapatite binding|protein binding|structural constituent of tooth enamel p.F3F(2) lung(2)|skin(1) 3 CTATGAAGTTCCTTGTCTTTG 0.378000 60 23 0 0 1 0 0 CHEK2P2 646096 broad.mit.edu 37 15 20490539 20490539 + RNA SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr15:20490539C>T uc001ytf.1 + 3 c.519C>T Homo sapiens checkpoint kinase 2 pseudogene 2 (CHEK2P2), non-coding RNA. GGTAGTGGATCCAAAGGCATG 0.443000 420 34 0 0 1 0 0 TCR-alpha 0 broad.mit.edu 37 14 22573960 22573960 + Missense_Mutation SNP G C C TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr14:22573960G>C uc001wdb.2 + 1 217 c.180G>C c.(178-180)tgG>tgC p.W60C TCRA_uc001wbw.2_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron SubName: Full=cDNA FLJ59026; GGTACAGATGGGAAACTGCAA 0.448000 15 3 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13737583 13737583 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr5:13737583G>A uc003jfd.2 - 65 11275 c.11233C>T c.(11233-11235)Cat>Tat p.H3745Y DNAH5_uc003jfc.2_Intron NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 3745 AAA 5 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TCCATCAGATGAGTTCTTTCT 0.373000 Kartagener syndrome 44 14 0 0 1 0 0 ADAM18 8749 broad.mit.edu 37 8 39581320 39581320 + Silent SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr8:39581320C>T uc003xni.3 + 18 2126 c.2071C>T c.(2071-2073)Ctg>Ttg p.L691L ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Silent_p.L667L NM_014237 NP_055052 Q9Y3Q7 ADA18_HUMAN Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA. 691 cell differentiation|multicellular organismal development|proteolysis|spermatogenesis integral to membrane|membrane fraction metalloendopeptidase activity|zinc ion binding NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3) 71 all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112) LUSC - Lung squamous cell carcinoma(45;0.000199) CTGGTTTATTCTGAGTTTCTG 0.328000 72 22 0 0 1 0 0 OR5K4 403278 broad.mit.edu 37 3 98073443 98073443 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr3:98073443C>T uc011bgv.2 + 0 746 c.746C>T c.(745-747)tCa>tTa p.S249L NM_001005517 NP_001005517 A6NMS3 OR5K4_HUMAN Homo sapiens olfactory receptor, family 5, subfamily K, member 4 (OR5K4), mRNA. 249 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1) 21 CTCTCTGTCTCAATATTTTAC 0.358000 79 23 0 0 1 0 0 LEFTY1 10637 broad.mit.edu 37 1 226074672 226074672 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr1:226074672G>A uc001hpo.3 - 3 936 c.856C>T c.(856-858)Ccg>Tcg p.P286S PYCR2_uc010pvj.2_3'UTR NM_020997 NP_066277 O75610 LFTY1_HUMAN Homo sapiens left-right determination factor 1 (LEFTY1), mRNA. 286 cell growth|multicellular organismal development|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity|transforming growth factor beta receptor binding p.P286P(1) cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 10 Breast(184;0.197) AGGAAGCCCGGGGGCTCCAGC 0.662000 20 5 0 0 1 0 0 SYT16 83851 broad.mit.edu 37 14 62551076 62551076 + Nonsense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr14:62551076C>T uc001xfu.1 + 4 1794 c.1597C>T c.(1597-1599)Cga>Tga p.R533* SYT16_uc010tse.1_Nonsense_Mutation_p.R91* NM_031914 NP_114120 Q17RD7 SYT16_HUMAN Homo sapiens synaptotagmin XVI (SYT16), mRNA. 533 C2 2. central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118) CAGCCATTTCCGAAACCTCGC 0.537000 47 10 0 0 1 0 0 CHIT1 1118 broad.mit.edu 37 1 203198762 203198762 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr1:203198762C>T uc001gzn.2 - 0 99 c.3G>A c.(1-3)atG>atA p.M1I CHIT1_uc001gzm.1_Intron|CHIT1_uc009xam.1_Non-coding_Transcript|CHIT1_uc009xan.1_Non-coding_Transcript|CHIT1_uc001gzo.2_Missense_Mutation_p.M11I NM_003465 NP_003456 Q13231 CHIT1_HUMAN Homo sapiens chitinase 1 (chitotriosidase) (CHIT1), transcript variant 1, mRNA. 1 chitin catabolic process|immune response|response to bacterium extracellular space|lysosome cation binding|chitin binding|endochitinase activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2) 27 CAGACCGCACCATGATGCAGC 0.622000 22 7 0 0 1 0 0 SIPA1L2 57568 broad.mit.edu 37 1 232538146 232538146 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr1:232538146G>A uc001hvg.3 - 19 5172 c.5014C>T c.(5014-5016)Ctt>Ttt p.L1672F SIPA1L2_uc001hvf.3_Missense_Mutation_p.L728F NM_020808 NP_065859 Q9P2F8 SI1L2_HUMAN Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA. 1672 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 103 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) ACCTTCCGAAGGTCGGTCTGG 0.398000 25 24 0 0 1 0 0 LPHN2 23266 broad.mit.edu 37 1 82416062 82416062 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr1:82416062C>T uc001dit.4 + 6 1569 c.1388C>T c.(1387-1389)cCc>cTc p.P463L LPHN2_uc001dis.3_Intron|LPHN2_uc001diu.3_Missense_Mutation_p.P463L|LPHN2_uc001div.3_Missense_Mutation_p.P463L|LPHN2_uc009wcd.3_Missense_Mutation_p.P463L|LPHN2_uc001diw.3_Missense_Mutation_p.P34L NM_012302 NP_036434 O95490 LPHN2_HUMAN Homo sapiens latrophilin 2 (LPHN2), mRNA. 463 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) AATATTTTTCCCCTGCCAGAG 0.458000 29 23 0 0 1 0 0 SWI5 375757 broad.mit.edu 37 9 131038500 131038500 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr9:131038500C>T uc004bup.3 + 0 76 c.76C>T c.(76-78)Cgg>Tgg p.R26W GOLGA2_uc011maw.2_5'Flank|GOLGA2_uc010mxw.3_5'Flank|GOLGA2_uc004bul.1_5'Flank|SWI5_uc010mxx.1_Missense_Mutation_p.R26W NM_001040011 NP_001035100 Q1ZZU3 SWI5_HUMAN Homo sapiens SWI5 recombination repair homolog (yeast) (SWI5), mRNA. 26 double-strand break repair via homologous recombination Swi5-Sfr1 complex protein binding CCGCCCACCTCGGGAGAGGGG 0.672000 42 8 0 0 1 0 0 GOT1 2805 broad.mit.edu 37 10 101166509 101166509 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr10:101166509G>A uc001kpr.3 - 2 606 c.398C>T c.(397-399)cCt>cTt p.P133L GOT1_uc009xwi.2_3'UTR NM_002079 NP_002070 P17174 AATC_HUMAN Homo sapiens glutamic-oxaloacetic transaminase 1, soluble (aspartate aminotransferase 1) (GOT1), mRNA. 133 aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus cytosol L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2) 16 Ovarian(717;0.028)|Colorectal(252;0.234) Epithelial(162;4.76e-10)|all cancers(201;3.84e-08) L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) CACATAGACAGGTGTGTTCTT 0.473000 35 9 0 0 1 0 0 UNC45B 146862 broad.mit.edu 37 17 33501375 33501375 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr17:33501375G>A uc002hja.3 + 13 2048 c.1951G>A c.(1951-1953)Gag>Aag p.E651K UNC45B_uc002hjb.3_Missense_Mutation_p.E649K|UNC45B_uc002hjc.3_Missense_Mutation_p.E649K|UNC45B_uc010cto.3_Missense_Mutation_p.E570K NM_173167 NP_775259 Q8IWX7 UN45B_HUMAN Homo sapiens unc-45 homolog B (C. elegans) (UNC45B), transcript variant 1, mRNA. 651 cell differentiation|muscle organ development cytosol binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3) 59 Ovarian(249;0.17) CCAGACCAAGGAGCTGCTGGC 0.602000 51 17 0 0 1 0 0 H1FNT 341567 broad.mit.edu 37 12 48723737 48723737 + Silent SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr12:48723737G>A uc001rrm.3 + 0 975 c.663G>A c.(661-663)gtG>gtA p.V221V NM_181788 NP_861453 Q75WM6 H1FNT_HUMAN Homo sapiens H1 histone family, member N, testis-specific (H1FNT), mRNA. 221 chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation nuclear chromatin ATP binding|DNA binding endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 13 GACAGGCCGTGAAGGAAGACA 0.667000 13 6 0 0 1 0 0 CES4A 283848 broad.mit.edu 37 16 67038069 67038069 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr16:67038069C>T uc002eqv.3 + 8 1206 c.1091C>T c.(1090-1092)tCa>tTa p.S364L CES4A_uc010vix.2_Missense_Mutation_p.S341L|CES4A_uc002eqw.3_Missense_Mutation_p.S341L|CES4A_uc010viy.2_Missense_Mutation_p.S247L|CES4A_uc002eqx.3_Missense_Mutation_p.S147L|CES4A_uc002eqy.3_Missense_Mutation_p.S243L NM_001190201 NP_001177130 Q5XG92 EST4A_HUMAN Homo sapiens carboxylesterase 4A (CES4A), transcript variant 3, mRNA. 341 extracellular region carboxylesterase activity large_intestine(2)|liver(2)|lung(4)|ovary(1) 9 GGGAAGGTTTCATCTGTGCCC 0.493000 111 34 0 0 1 0 0 NLRP1 22861 broad.mit.edu 37 17 5485193 5485193 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr17:5485193C>T uc002gci.3 - 2 1193 c.638G>A c.(637-639)gGa>gAa p.G213E NLRP1_uc002gcg.1_Missense_Mutation_p.G213E|NLRP1_uc002gch.4_Missense_Mutation_p.G213E|NLRP1_uc002gck.3_Missense_Mutation_p.G213E|NLRP1_uc002gcj.3_Missense_Mutation_p.G213E|NLRP1_uc002gcl.3_Missense_Mutation_p.G213E|NLRP1_uc010clh.3_Missense_Mutation_p.G213E NM_033004 NP_127497 Q9C000 NALP1_HUMAN Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA. 213 defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide NALP1 inflammasome complex|cytoplasm|nucleus ATP binding|caspase activator activity|enzyme binding|protein domain specific binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Colorectal(1115;3.48e-05) GTAGTAAATTCCTGACGTTTC 0.602000 97 31 0 0 1 0 0 FAM75E1 286234 broad.mit.edu 37 9 90502088 90502089 + Missense_Mutation DNP GG AA AA rs139269965 TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr9:90502088_90502089GG>AA uc004app.4 + 3 2721_2722 c.2686_2687GG>AA c.(2686-2688)gga>AAa p.G896K FAM75E1_uc004apo.1_Missense_Mutation_p.G708K NM_178828 NP_849150 Q6ZUB1 CI079_HUMAN Homo sapiens chromosome 9 open reading frame 79 (C9orf79), mRNA. 896 integral to membrane CATTTTCCTGGGAAAACGTCCT 0.594000 34 20 0 0 1 0 0 ZMYND15 84225 broad.mit.edu 37 17 4647081 4647081 + Silent SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr17:4647081C>T uc002fyu.2 + 5 1347 c.1317C>T c.(1315-1317)ctC>ctT p.L439L ZMYND15_uc002fyv.2_Silent_p.L439L|ZMYND15_uc002fyt.2_Silent_p.L439L NM_001136046 NP_001129518 Q9H091 ZMY15_HUMAN Homo sapiens zinc finger, MYND-type containing 15 (ZMYND15), transcript variant 1, mRNA. 439 zinc ion binding endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2) 18 ACCAGCTTCTCCAGGGAGACG 0.632000 26 11 0 0 1 0 0 THBS1 7057 broad.mit.edu 37 15 39879565 39879565 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr15:39879565G>A uc001zkh.3 + 7 1317 c.1138G>A c.(1138-1140)Gat>Aat p.D380N THBS1_uc010bbi.3_5'Flank NM_003246 NP_003237 P07996 TSP1_HUMAN Homo sapiens thrombospondin 1 (THBS1), mRNA. 380 TSP type-1 1. activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of cGMP-mediated signaling|negative regulation of caspase activity|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223) GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105) Becaplermin(DB00102) CTCTGCGGACGATGGCTGGTC 0.572000 35 16 0 0 1 0 0 UBQLNL 143630 broad.mit.edu 37 11 5537407 5537408 + Missense_Mutation DNP CC TT TT TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr11:5537407_5537408CC>TT uc001maz.4 - 0 549_550 c.264_265GG>AA c.(262-267)aggggc>agAAgc p.G89S HBG1_uc001mak.1_Intron NM_145053 NP_659490 Q8IYU4 UBQLN_HUMAN Homo sapiens ubiquilin-like (UBQLNL), mRNA. 89 Ubiquitin-like. endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 33 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136) TCCATGATGCCCCTCTGGCTCA 0.530000 79 10 0 0 1 0 0 T-Cell_Receptor_V-alpha_region 0 broad.mit.edu 37 14 22409795 22409795 + Silent SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr14:22409795G>A uc021rpl.1 + 1 328 c.285G>A c.(283-285)gaG>gaA p.E95E TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_Intron|T-Cell_Receptor_V-alpha_region_uc001wck.3_Silent_p.E95E SubName: Full=V-alpha 22; Flags: Precursor; Fragment; TCCACTTGGAGAAAGGCTCAG 0.507000 62 15 0 0 1 0 0 SLC5A2 6524 broad.mit.edu 37 16 31497517 31497517 + Silent SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr16:31497517C>T uc002ecf.4 + 4 514 c.495C>T c.(493-495)ttC>ttT p.F165F SLC5A2_uc010car.3_Non-coding_Transcript NM_003041 NP_003032 P31639 SC5A2_HUMAN Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 2 (SLC5A2), mRNA. 165 carbohydrate metabolic process integral to membrane low-affinity glucose:sodium symporter activity endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 25 GAGCTGTATTCATCCAGCAGG 0.607000 60 16 0 0 1 0 0 PLCB4 5332 broad.mit.edu 37 20 9391729 9391729 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr20:9391729C>T uc021wam.1 + 20 2024 c.2009C>T c.(2008-2010)tCg>tTg p.S670L PLCB4_uc010gbw.1_Missense_Mutation_p.S670L|PLCB4_uc010gbx.3_Missense_Mutation_p.S682L|PLCB4_uc021wal.1_Missense_Mutation_p.S670L|PLCB4_uc002wnh.3_Missense_Mutation_p.S517L NM_000933 NP_000924 Q15147 PLCB4_HUMAN Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA. 670 PI-PLC Y-box. intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity p.S670L(2) NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 TATAATGGATCGTGCGGGTGA 0.363000 56 10 0 0 1 0 0 PPFIA4 8497 broad.mit.edu 37 1 203017437 203017437 + Splice_Site SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr1:203017437G>A uc009xaj.3 + 14 1665 c.1665_splice c.e14+1 p.R555_splice PPFIA4_uc010pqf.2_Splice_Site_p.R115_splice|PPFIA4_uc001gyz.3_5'Flank|PPFIA4_uc001gza.3_5'Flank O75335 LIPA4_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 (PPFIA4), mRNA. 102 SAM 3. cell communication cell surface|cytoplasm protein binding NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 50 GAGCTGGCACGGGTGAGGGCA 0.687000 19 14 0 0 1 0 0 ERMAP 114625 broad.mit.edu 37 1 43300731 43300731 + Silent SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr1:43300731C>T uc001cic.1 + 4 726 c.456C>T c.(454-456)tcC>tcT p.S152S ERMAP_uc010ojw.1_Silent_p.S213S|ERMAP_uc001cid.1_Non-coding_Transcript|ERMAP_uc001cie.1_Silent_p.S152S|ERMAP_uc001cif.1_Silent_p.S62S NM_001017922 NP_061008 Q96PL5 ERMAP_HUMAN Homo sapiens erythroblast membrane-associated protein (Scianna blood group) (ERMAP), transcript variant 1, mRNA. 152 Missing (in Sc-3 allele). integral to membrane|plasma membrane breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1) 11 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) GGAGTCTCTCCCCCTCAGCAG 0.537000 74 30 0 0 1 0 0 DENND3 22898 broad.mit.edu 37 8 142178153 142178153 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr8:142178153C>T uc003yvy.3 + 12 1842 c.1564C>T c.(1564-1566)Cac>Tac p.H522Y DENND3_uc010mep.3_Missense_Mutation_p.H483Y|DENND3_uc003yvz.1_Missense_Mutation_p.H206Y NM_014957 NP_055772 A2RUS2 DEND3_HUMAN Homo sapiens DENN/MADD domain containing 3 (DENND3), mRNA. 522 breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1) 55 all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.105) TCCCGAAATCCACTTTCCGCT 0.512000 165 38 0 0 1 0 0 ZNF831 128611 broad.mit.edu 37 20 57767386 57767386 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr20:57767386G>A uc002yan.3 + 0 1312 c.1312G>A c.(1312-1314)Ggc>Agc p.G438S NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN Homo sapiens zinc finger protein 831 (ZNF831), mRNA. 438 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) GTCCAAACAGGGCAGCATCGA 0.682000 26 10 0 0 1 0 0 ANKFN1 162282 broad.mit.edu 37 17 54520229 54520229 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr17:54520229C>T uc002iun.1 + 8 1078 c.1043C>T c.(1042-1044)tCg>tTg p.S348L NM_153228 NP_694960 Q8N957 ANKF1_HUMAN Homo sapiens ankyrin-repeat and fibronectin type III domain containing 1 (ANKFN1), mRNA. 348 Fibronectin type-III. NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1) 53 GTTCAAGTCTCGGCTTACAAT 0.438000 63 12 0 0 1 0 0 TRANK1 9881 broad.mit.edu 37 3 36897918 36897918 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr3:36897918C>T uc003cgj.3 - 11 3411 c.3163G>A c.(3163-3165)Gaa>Aaa p.E1055K NM_014831 NP_055646 O15050 TRNK1_HUMAN Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA. 1055 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 TCAGCTTTTTCCCAGTAAACG 0.537000 29 8 0 0 1 0 0 TRPC7 57113 broad.mit.edu 37 5 135692713 135692713 + Silent SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr5:135692713G>A uc003lbn.2 - 1 585 c.363C>T c.(361-363)atC>atT p.I121I TRPC7_uc010jef.2_Silent_p.I112I|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_5'UTR|TRPC7_uc010jeh.2_Silent_p.I121I|TRPC7_uc010jei.2_Silent_p.I121I NM_020389 NP_065122 Q9HCX4 TRPC7_HUMAN Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA. 121 axon guidance|platelet activation integral to membrane|plasma membrane calcium channel activity|protein binding p.R120C(1) NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3) 46 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TGGCCTCCACGATGCGCACAT 0.657000 44 16 0 0 1 0 0 PTH2R 5746 broad.mit.edu 37 2 209358099 209358099 + Silent SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr2:209358099G>A uc010zjb.2 + 12 1687 c.1401G>A c.(1399-1401)acG>acA p.T467T PTH2R_uc002vdb.3_Silent_p.T456T|PTH2R_uc010fuo.1_Intron NM_005048 NP_005039 P49190 PTH2R_HUMAN Homo sapiens parathyroid hormone 2 receptor (PTH2R), mRNA. 456 integral to plasma membrane parathyroid hormone receptor activity p.A466A(1) breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 43 Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836) CCACCGTGACGCACAGCACCA 0.607000 39 11 0 0 1 0 0 PADI4 23569 broad.mit.edu 37 1 17672607 17672607 + Silent SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr1:17672607G>A uc001baj.2 + 8 1048 c.1020G>A c.(1018-1020)gaG>gaA p.E340E PADI4_uc009vpc.2_Silent_p.E340E NM_012387 NP_036519 Q9UM07 PADI4_HUMAN Homo sapiens peptidyl arginine deiminase, type IV (PADI4), mRNA. 340 chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3) 26 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199) L-Citrulline(DB00155) GCCCTGAGGAGGAGAACATGG 0.552000 34 19 0 0 1 0 0 PTDSS2 81490 broad.mit.edu 37 11 489424 489424 + Silent SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr11:489424C>T uc001lpj.3 + 8 1055 c.879C>T c.(877-879)ttC>ttT p.F293F NM_030783 NP_110410 Q9BVG9 PTSS2_HUMAN Homo sapiens phosphatidylserine synthase 2 (PTDSS2), mRNA. 293 integral to membrane autonomic_ganglia(1)|breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1) 9 all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735) Phosphatidylserine(DB00144) GGATCGCCTTCCAGTTCACGC 0.652000 28 8 0 0 1 0 0 KCNA6 3742 broad.mit.edu 37 12 4919558 4919558 + Silent SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr12:4919558C>T uc001qng.3 + 0 1217 c.351C>T c.(349-351)ttC>ttT p.F117F KCNA6_uc021qtr.1_Silent_p.F117F NM_002235 NP_002226 P17658 KCNA6_HUMAN Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 6 (KCNA6), mRNA. 117 voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5) 49 TGGACATTTTCCTGGAGGAGA 0.672000 HNSCC(72;0.22) 68 25 0 0 1 0 0 MYO18B 84700 broad.mit.edu 37 22 26164846 26164846 + Silent SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr22:26164846C>T uc003abz.1 + 3 1213 c.963C>T c.(961-963)ttC>ttT p.F321F MYO18B_uc003aca.1_Silent_p.F202F|MYO18B_uc010guy.1_Silent_p.F202F|MYO18B_uc010guz.1_Silent_p.F202F|MYO18B_uc011aka.1_5'UTR|MYO18B_uc011akb.1_5'Flank NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN Homo sapiens myosin XVIIIB (MYO18B), mRNA. 321 nucleus|sarcomere|unconventional myosin complex ATP binding|actin binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 GGGGAGGTTTCCTGGGAAGAA 0.532000 20 4 0 0 1 0 0 ZNF239 8187 broad.mit.edu 37 10 44052942 44052942 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr10:44052942G>A uc001jaw.4 - 1 1239 c.586C>T c.(586-588)Cca>Tca p.P196S ZNF239_uc001jax.4_Missense_Mutation_p.P196S|ZNF239_uc009xmj.3_Missense_Mutation_p.P196S|ZNF239_uc009xmk.3_Missense_Mutation_p.P196S|ZNF239_uc021pph.1_Missense_Mutation_p.P196S NM_005674 NP_005665 Q16600 ZN239_HUMAN Homo sapiens zinc finger protein 239 (ZNF239), transcript variant 1, mRNA. 196 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|RNA binding|zinc ion binding endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 TTCTCATATGGATGACCATCT 0.438000 96 17 0 0 1 0 0 INMT 11185 broad.mit.edu 37 7 30795321 30795321 + Silent SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr7:30795321C>T uc003tbs.1 + 2 662 c.646C>T c.(646-648)Ctg>Ttg p.L216L FAM188B_uc010kwe.3_Intron|INMT_uc010kwc.1_Non-coding_Transcript|INMT_uc010kwd.1_Silent_p.L215L NM_006774 NP_006765 O95050 INMT_HUMAN Homo sapiens indolethylamine N-methyltransferase (INMT), transcript variant 1, mRNA. 216 cytoplasm amine N-methyltransferase activity kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|stomach(1) 23 CTGCGTGGCCCTGGAGAAAGA 0.587000 63 24 0 0 1 0 0 DPPA2 151871 broad.mit.edu 37 3 109031471 109031471 + Silent SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr3:109031471G>A uc003dxo.3 - 2 349 c.102C>T c.(100-102)gaC>gaT p.D34D NM_138815 NP_620170 Q7Z7J5 DPPA2_HUMAN Homo sapiens developmental pluripotency associated 2 (DPPA2), mRNA. 34 nucleus nucleic acid binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 CCATATTTGCGTCATCTTTAA 0.413000 137 39 0 0 1 0 0 MGAT1 4245 broad.mit.edu 37 5 180219443 180219443 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr5:180219443G>A uc003mmg.4 - 1 1024 c.529C>T c.(529-531)Cgc>Tgc p.R177C MGAT1_uc010jlf.3_Missense_Mutation_p.R177C|MGAT1_uc010jlg.3_Missense_Mutation_p.R177C|MGAT1_uc003mmh.4_Missense_Mutation_p.R177C|MGAT1_uc010jlh.3_Missense_Mutation_p.R177C|MGAT1_uc003mmi.4_Missense_Mutation_p.R177C|MGAT1_uc021yjn.1_Missense_Mutation_p.R177C NM_002406 NP_002397 P26572 MGAT1_HUMAN Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase (MGAT1), transcript variant 2, mRNA. 177 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1) 13 all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TGGAACTTGCGGTGGTCCGGC 0.701000 69 31 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 216591896 216591896 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr1:216591896C>T uc001hku.1 - 2 998 c.611G>A c.(610-612)gGg>gAg p.G204E USH2A_uc001hkv.3_Missense_Mutation_p.G204E NM_206933 NP_996816 O75445 USH2A_HUMAN Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA. 204 maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) AAGAATTCTCCCCAGTGTCAT 0.343000 HNSCC(13;0.011) 77 16 0 0 1 0 0 AGPAT1 10554 broad.mit.edu 37 6 32137789 32137789 + Silent SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr6:32137789G>A uc003oae.3 - 5 968 c.633C>T c.(631-633)tcC>tcT p.S211S EGFL8_uc003nzy.2_Intron|AGPAT1_uc011dpk.2_Silent_p.S175S|AGPAT1_uc003oag.3_Silent_p.S101S|AGPAT1_uc003oah.3_Silent_p.S211S|AGPAT1_uc003oai.1_Silent_p.S211S|AGPAT1_uc011dpl.2_Silent_p.S99S NM_006411 NP_116130 Q99943 PLCA_HUMAN Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 1 (lysophosphatidic acid acyltransferase, alpha) (AGPAT1), transcript variant 1, mRNA. 211 energy reserve metabolic process|phosphatidic acid biosynthetic process|positive regulation of cellular metabolic process|positive regulation of cytokine production|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane 1-acylglycerol-3-phosphate O-acyltransferase activity central_nervous_system(1)|large_intestine(3)|lung(6)|ovary(2) 12 CTTGGTAGGAGGACATGACTA 0.562000 51 10 0 0 1 0 0 UPF1 5976 broad.mit.edu 37 19 18943028 18943028 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr19:18943028G>A uc002nkg.3 + 0 285 c.10G>A c.(10-12)Gag>Aag p.E4K UPF1_uc002nkf.3_Missense_Mutation_p.E4K NM_002911 NP_002902 Q92900 RENT1_HUMAN Homo sapiens UPF1 regulator of nonsense transcripts homolog (yeast) (UPF1), mRNA. 4 Sufficient for interaction with RENT2. DNA repair|DNA replication|cell cycle|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination chromatin|cytoplasmic mRNA processing body|exon-exon junction complex ATP binding|ATP-dependent RNA helicase activity|DNA binding|RNA binding|chromatin binding|protein binding|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 CATGAGCGTGGAGGCGTACGG 0.711000 36 9 0 0 1 0 0 KRT73 319101 broad.mit.edu 37 12 53005026 53005026 + Nonsense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr12:53005026G>A uc001sas.3 - 5 1107 c.1072C>T c.(1072-1074)Caa>Taa p.Q358* NM_175068 NP_778238 Q86Y46 K2C73_HUMAN Homo sapiens keratin 73 (KRT73), mRNA. 358 Coil 2.|Rod. keratin filament structural molecule activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 BRCA - Breast invasive adenocarcinoma(357;0.189) CGCAGTCTTTGGATGAGACGG 0.552000 93 21 0 0 1 0 0 RHOBTB1 9886 broad.mit.edu 37 10 62645964 62645964 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr10:62645964C>T uc001jli.3 - 7 1919 c.1481G>A c.(1480-1482)gGa>gAa p.G494E RHOBTB1_uc009xpe.2_Missense_Mutation_p.G432E|RHOBTB1_uc001jlh.3_Missense_Mutation_p.G494E|RHOBTB1_uc001jlj.3_Missense_Mutation_p.G494E|RHOBTB1_uc001jlk.3_Missense_Mutation_p.G494E NM_001242359 NP_001229288 O94844 RHBT1_HUMAN Homo sapiens Rho-related BTB domain containing 1 (RHOBTB1), transcript variant 4, mRNA. 494 BTB 2. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane GTP binding endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 23 Prostate(12;0.0112) ACTGATGGCTCCATCGTCCAA 0.522000 57 30 0 0 1 0 0 OR10A5 144124 broad.mit.edu 37 11 6867026 6867026 + Missense_Mutation SNP T C C TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr11:6867026T>C uc001met.1 + 0 113 c.113T>C c.(112-114)gTt>gCt p.V38A NM_178168 NP_835462 Q9H207 O10A5_HUMAN Homo sapiens olfactory receptor, family 10, subfamily A, member 5 (OR10A5), mRNA. 38 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2) 21 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) ATCTATTTGGTTACTCTGAAG 0.423000 226 80 0 0 1 0 0 GRM4 2914 broad.mit.edu 37 6 34100929 34100929 + Silent SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr6:34100929G>A uc003oir.4 - 0 708 c.345C>T c.(343-345)gcC>gcT p.A115A GRM4_uc011dsn.2_Silent_p.A115A|GRM4_uc010jvh.3_Silent_p.A115A|GRM4_uc010jvi.3_5'UTR|GRM4_uc010jvk.1_Silent_p.A34A NM_000841 NP_000832 Q14833 GRM4_HUMAN Homo sapiens glutamate receptor, metabotropic 4 (GRM4), mRNA. 115 activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade cytoplasmic vesicle|integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 L-Glutamic Acid(DB00142) ACTGCTCGAGGGCATGGGTGT 0.627000 23 8 0 0 1 0 0 LAMA3 3909 broad.mit.edu 37 18 21501018 21501018 + Splice_Site SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr18:21501018G>A uc002kuq.3 + 61 8129 c.8043_splice c.e61+1 p.S2681_splice LAMA3_uc002kur.3_Splice_Site_p.S2625_splice|LAMA3_uc002kus.4_Splice_Site_p.S1072_splice|LAMA3_uc002kut.4_Splice_Site_p.S1016_splice NM_198129 NP_937762 Q16787 LAMA3_HUMAN Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA. 2681 Laminin G-like 2. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GAGACCATTCGGTACACCTTT 0.383000 34 13 0 0 1 0 0 PAPPA 5069 broad.mit.edu 37 9 119109484 119109484 + Silent SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr9:119109484G>A uc004bjn.3 + 14 4341 c.3960G>A c.(3958-3960)ttG>ttA p.L1320L PAPPA_uc011lxq.2_Silent_p.L695L NM_002581 NP_002572 Q13219 PAPP1_HUMAN Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA. 1320 Sushi 2. cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 CTGCACAATTGAAAGGTATCA 0.537000 51 17 0 0 1 0 0 LUC7L3 51747 broad.mit.edu 37 17 48823267 48823267 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr17:48823267C>T uc002isq.3 + 7 1048 c.880C>T c.(880-882)Cgt>Tgt p.R294C LUC7L3_uc010wmw.2_Missense_Mutation_p.R218C|LUC7L3_uc002isr.3_Missense_Mutation_p.R294C|LUC7L3_uc002iss.3_Missense_Mutation_p.R294C NM_016424 NP_057508 O95232 LC7L3_HUMAN Homo sapiens LUC7-like 3 (S. cerevisiae) (LUC7L3), transcript variant 1, mRNA. 294 Arg/Ser-rich. RNA splicing|apoptosis|mRNA processing|response to stress focal adhesion|nuclear speck DNA binding|mRNA binding|protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1) 12 AAAGAGAAGTCGTTCACGAAG 0.473000 26 11 0 0 1 0 0 COL1A2 1278 broad.mit.edu 37 7 94049738 94049738 + Missense_Mutation SNP T A A rs407599 TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr7:94049738T>A uc003ung.1 + 35 2640 c.2169T>A c.(2167-2169)aaT>aaA p.N723K COL1A2_uc011kib.1_Intron|COL1A2_uc010lfi.1_Intron NM_000089 NP_000080 P08123 CO1A2_HUMAN Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA. 723 Missing (in OI2A). Rho protein signal transduction|axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) CTGGCCCCAATGGATTTGCTG 0.448000 HNSCC(75;0.22) 62 19 0 0 1 0 0 KRT73 319101 broad.mit.edu 37 12 53002027 53002027 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr12:53002027C>T uc001sas.3 - 8 1611 c.1576G>A c.(1576-1578)Gga>Aga p.G526R NM_175068 NP_778238 Q86Y46 K2C73_HUMAN Homo sapiens keratin 73 (KRT73), mRNA. 526 Tail. keratin filament structural molecule activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 BRCA - Breast invasive adenocarcinoma(357;0.189) AAGGTCTTTCCCTGGGAGTCC 0.567000 132 42 0 0 1 0 0 KLK14 43847 broad.mit.edu 37 19 51582165 51582165 + Silent SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr19:51582165G>A uc021uyk.1 - 5 777 c.558C>T c.(556-558)tcC>tcT p.S186S KLK14_uc002pvs.1_Silent_p.S186S NM_022046 NP_071329 Q9P0G3 KLK14_HUMAN Homo sapiens kallikrein-related peptidase 14 (KLK14), mRNA. 186 Peptidase S1. epidermis morphogenesis|fertilization|negative regulation of G-protein coupled receptor protein signaling pathway|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis|seminal clot liquefaction extracellular space serine-type endopeptidase activity kidney(4)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1) 11 all_neural(266;0.0199) OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00422) CCTCATCCGGGGAGATGTTGA 0.587000 161 58 0 0 1 0 0 PCDHB15 56121 broad.mit.edu 37 5 140627082 140627082 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr5:140627082G>A uc003lje.3 + 0 1936 c.1936G>A c.(1936-1938)Gac>Aac p.D646N NM_018935 NP_061758 Q9Y5E8 PCDBF_HUMAN Homo sapiens protocadherin beta 15 (PCDHB15), mRNA. 646 Cadherin 6. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 61 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCTGGTCAAGGACAATGGCGA 0.706000 80 18 0 0 1 0 0 TSC2 7249 broad.mit.edu 37 16 2127662 2127662 + Silent SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr16:2127662G>A uc002con.3 + 25 3007 c.2901G>A c.(2899-2901)aaG>aaA p.K967K TCRBV20S1_uc021tak.1_Intron|TSC2_uc010bsd.3_Silent_p.K967K|TSC2_uc002coo.3_Intron|TSC2_uc010uvv.2_Intron|TSC2_uc010uvw.2_Intron|TSC2_uc002cop.3_Intron NM_000548 NP_000539 P49815 TSC2_HUMAN Homo sapiens tuberous sclerosis 2 (TSC2), transcript variant 1, mRNA. 967 cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction Golgi apparatus|TSC1-TSC2 complex|nucleus|perinuclear region of cytoplasm GTPase activator activity|protein homodimerization activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1) 56 Hepatocellular(780;0.0202) AAGAATTCAAGGAGAGCTCTG 0.607000 """D, Mis, N, F, S""" """hamartoma, renal cell""" Tuberous Sclerosis 71 29 0 0 1 0 0 PFAS 5198 broad.mit.edu 37 17 8168223 8168223 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr17:8168223C>T uc002gkr.3 + 17 2201 c.2060C>T c.(2059-2061)tCt>tTt p.S687F PFAS_uc010vuv.2_Missense_Mutation_p.S263F|PFAS_uc002gks.3_5'Flank NM_012393 NP_036525 O15067 PUR4_HUMAN Homo sapiens phosphoribosylformylglycinamidine synthase (PFAS), mRNA. 687 'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process cytosol ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 35 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) GTGGACCGCTCTGTGGGAGGC 0.642000 12 3 0 0 1 0 0 TG 7038 broad.mit.edu 37 8 133935613 133935613 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr8:133935613G>A uc003ytw.3 + 21 4600 c.4559G>A c.(4558-4560)gGc>gAc p.G1520D TG_uc010mdw.3_Missense_Mutation_p.G279D|TG_uc011ljb.2_5'UTR|TG_uc003ytx.1_Intron NM_003235 NP_003226 P01266 THYG_HUMAN Homo sapiens thyroglobulin (TG), mRNA. 1520 Thyroglobulin type-1 11. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) AACGAAGCAGGCCTGCAATGT 0.577000 51 9 0 0 1 0 0 LRP2 4036 broad.mit.edu 37 2 170062081 170062081 + Silent SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr2:170062081G>A uc002ues.3 - 40 7836 c.7623C>T c.(7621-7623)ttC>ttT p.F2541F NM_004525 NP_004516 P98164 LRP2_HUMAN Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA. 2541 hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome SH3 domain binding|calcium ion binding|receptor activity biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) TGGGTACGCGGAAGTTTCCTC 0.488000 67 37 0 0 1 0 0 NLRP8 126205 broad.mit.edu 37 19 56481962 56481962 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr19:56481962C>T uc002qmh.3 + 5 2505 c.2434C>T c.(2434-2436)Ctt>Ttt p.L812F NLRP8_uc010etg.3_Missense_Mutation_p.L812F NM_176811 NP_789781 Q86W28 NALP8_HUMAN Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA. 812 cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) TGGCAATAATCTTCAAGGTAA 0.488000 144 54 0 0 1 0 0 ENPP5 59084 broad.mit.edu 37 6 46133237 46133237 + Missense_Mutation SNP T G G TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr6:46133237T>G uc003oxz.1 - 2 1101 c.893A>C c.(892-894)aAa>aCa p.K298T ENPP5_uc010jzc.1_Missense_Mutation_p.K298T|ENPP5_uc011dvz.1_Missense_Mutation_p.K204T|ENPP5_uc003oya.1_Missense_Mutation_p.K298T NM_021572 NP_067547 Q9UJA9 ENPP5_HUMAN Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative) (ENPP5), mRNA. 298 extracellular region|integral to membrane hydrolase activity endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1) 12 AACGTCTTCTTTTTTGTAAAC 0.388000 139 40 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1271501 1271501 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr11:1271501G>A uc001lta.3 + 30 13450 c.13391G>A c.(13390-13392)gGa>gAa p.G4464E NM_002458 NP_002449 Q9HC84 MUC5B_HUMAN Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA. 4464 23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding p.G4464E(2)|p.G4419E(1) cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) GTGCCCACCGGATCCACGGCC 0.672000 117 29 0 0 1 0 0 DYSF 8291 broad.mit.edu 37 2 71827915 71827915 + Silent SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr2:71827915G>A uc010fen.3 + 33 3981 c.3840G>A c.(3838-3840)agG>agA p.R1280R DYSF_uc010fei.3_Silent_p.R1279R|DYSF_uc010feh.3_Silent_p.R1248R|DYSF_uc002sig.4_Silent_p.R1248R|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Silent_p.R1293R|DYSF_uc010fee.3_Silent_p.R1262R|DYSF_uc010fef.3_Silent_p.R1279R|DYSF_uc002sie.3_Silent_p.R1262R|DYSF_uc010feo.3_Silent_p.R1294R|DYSF_uc010fej.3_Silent_p.R1249R|DYSF_uc010fel.3_Silent_p.R1249R|DYSF_uc010fem.3_Silent_p.R1263R|DYSF_uc002sif.3_Silent_p.R1263R|DYSF_uc010fek.3_Silent_p.R1280R|DYSF_uc010yqy.2_Silent_p.R143R|DYSF_uc010yqz.2_5'Flank NM_001130987 NP_001124459 O75923 DYSF_HUMAN Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA. 1262 cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 CACTGACGAGGGGCAGCCAGC 0.607000 107 34 0 0 1 0 0 HHLA2 11148 broad.mit.edu 37 3 108072559 108072559 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr3:108072559G>A uc003dwz.3 + 3 764 c.350G>A c.(349-351)gGa>gAa p.G117E HHLA2_uc011bhl.2_Missense_Mutation_p.G53E|HHLA2_uc010hpu.3_Missense_Mutation_p.G117E|HHLA2_uc003dwy.4_Missense_Mutation_p.G117E NM_007072 NP_009003 Q9UM44 HHLA2_HUMAN Homo sapiens HERV-H LTR-associating 2 (HHLA2), mRNA. 117 Ig-like V-type 1. integral to membrane endometrium(2)|large_intestine(1)|lung(14)|ovary(1) 18 CTGGACGAAGGAATTTACACC 0.403000 40 13 0 0 1 0 0 LATS1 9113 broad.mit.edu 37 6 150005421 150005421 + Nonsense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr6:150005421C>T uc003qmu.1 - 3 1352 c.804G>A c.(802-804)tgG>tgA p.W268* LATS1_uc010kif.1_Nonsense_Mutation_p.W163*|LATS1_uc003qmv.2_Nonsense_Mutation_p.W268*|LATS1_uc003qmw.3_Nonsense_Mutation_p.W268*|LATS1_uc010kig.1_Nonsense_Mutation_p.W163* NM_004690 NP_004681 O95835 LATS1_HUMAN Homo sapiens LATS, large tumor suppressor, homolog 1 (Drosophila) (LATS1), mRNA. 268 G2/M transition of mitotic cell cycle|cell division|cytoplasmic sequestering of protein|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation microtubule organizing center|spindle pole ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity central_nervous_system(1)|lung(5) 6 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116) AGTTTGGTTCCCATGAAGGGG 0.547000 135 53 0 0 1 0 0 OR1L3 26735 broad.mit.edu 37 9 125437562 125437562 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr9:125437562G>A uc011lzb.2 + 0 154 c.154G>A c.(154-156)Gat>Aat p.D52N NM_001005234 NP_001005234 Q8NH93 OR1L3_HUMAN Homo sapiens olfactory receptor, family 1, subfamily L, member 3 (OR1L3), mRNA. 52 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 16 TATCCACTCTGATCCTCGACT 0.433000 152 39 0 0 1 0 0 RERGL 79785 broad.mit.edu 37 12 18234310 18234310 + Missense_Mutation SNP T A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr12:18234310T>A uc001rdq.3 - 5 627 c.433A>T c.(433-435)Aac>Tac p.N145Y NM_024730 NP_079006 Q9H628 RERGL_HUMAN Homo sapiens RERG/RAS-like (RERGL), mRNA. 145 Small GTPase-like. signal transduction membrane GTP binding|GTPase activity endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 17 TGGCATCGGTTTTCCAGTGCC 0.458000 71 18 0 0 1 0 0 DHX29 54505 broad.mit.edu 37 5 54577307 54577307 + Nonsense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr5:54577307G>A uc003jpx.3 - 11 2122 c.2002C>T c.(2002-2004)Cga>Tga p.R668* DHX29_uc010ivw.3_Non-coding_Transcript NM_019030 NP_061903 Q7Z478 DHX29_HUMAN Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 29 (DHX29), mRNA. 668 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|translation initiation factor activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2) 46 Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183) TCACAAGCTCGAGATTCCATC 0.378000 95 20 0 0 1 0 0 HIVEP2 3097 broad.mit.edu 37 6 143093351 143093351 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr6:143093351G>A uc003qjd.3 - 4 3268 c.2525C>T c.(2524-2526)tCa>tTa p.S842L NM_006734 NP_006725 P31629 ZEP2_HUMAN Homo sapiens human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2), mRNA. 842 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 100 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) TGGGGCTTCTGAAATCTCACT 0.547000 34 15 0 0 1 0 0 RNF17 56163 broad.mit.edu 37 13 25433138 25433138 + Splice_Site SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr13:25433138G>A uc001upr.3 + 26 3652 c.3611_splice c.e26-1 p.E1204_splice RNF17_uc010tdd.1_Splice_Site_p.E1063_splice|RNF17_uc010tde.2_Splice_Site_p.E1200_splice|RNF17_uc010aab.3_Splice_Site|RNF17_uc001ups.3_Splice_Site_p.E1143_splice|RNF17_uc010aac.3_Splice_Site_p.E402_splice|RNF17_uc010aad.3_Splice_Site_p.E256_splice NM_031277 NP_112567 Q9BXT8 RNF17_HUMAN Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA. 1204 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) CTTTTTTTCAGAATTTGAGCT 0.284000 15 6 0 0 1 0 0 VWF 7450 broad.mit.edu 37 12 6153610 6153610 + Missense_Mutation SNP C A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr12:6153610C>A uc001qnn.1 - 17 2539 c.2289G>T c.(2287-2289)agG>agT p.R763S VWF_uc010set.1_Intron NM_000552 NP_000543 P04275 VWF_HUMAN Homo sapiens von Willebrand factor (VWF), mRNA. 763 blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) AGGATAGGCTCCTTTTGCCTC 0.532000 27 7 1.06961e-07 1.08485e-07 1 1 0 MSR1 4481 broad.mit.edu 37 8 16001121 16001121 + Splice_Site SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr8:16001121C>T uc010lsu.3 - 8 1098 c.1034_splice c.e8-1 p.G345_splice MSR1_uc003wwz.3_Splice_Site_p.G327_splice|MSR1_uc003wxa.3_Splice_Site_p.G327_splice|MSR1_uc003wxb.3_Splice_Site_p.G327_splice|MSR1_uc011kxz.2_Splice_Site_p.G101_splice NM_138715 NP_619729 P21757 MSRE_HUMAN Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA. 327 cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis collagen|integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|protein binding|scavenger receptor activity haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 37 Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164) CCAGAATTTCCTTGAGAAAAG 0.313000 45 32 0 0 1 0 0 PTPRK 5796 broad.mit.edu 37 6 128294930 128294930 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr6:128294930C>T uc003qbk.3 - 27 4376 c.4009G>A c.(4009-4011)Gga>Aga p.G1337R PTPRK_uc010kfc.3_Missense_Mutation_p.G1344R|PTPRK_uc003qbj.3_Missense_Mutation_p.G1338R|PTPRK_uc011ebu.2_Missense_Mutation_p.G1360R NM_002844 NP_002835 Q15262 PTPRK_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA. 1337 Tyrosine-protein phosphatase 2. cell migration|cellular response to UV|cellular response to reactive oxygen species|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity PTPRK/RSPO3(10) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) GAAGCCCATCCTAGGTACTGA 0.443000 90 20 0 0 1 0 0 STAB2 55576 broad.mit.edu 37 12 104126850 104126850 + Missense_Mutation SNP G A A rs147807697 by1000genomes TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr12:104126850G>A uc001tjw.3 + 50 5536 c.5350G>A c.(5350-5352)Gac>Aac p.D1784N STAB2_uc009zug.3_Non-coding_Transcript NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN Homo sapiens stabilin 2 (STAB2), mRNA. 1784 FAS1 6. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity p.D1784N(2) NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 CTGGCCCACCGACCAAGCCCT 0.522000 118 44 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 33990587 33990587 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr1:33990587C>T uc001bxm.1 - 65 10468 c.10291G>A c.(10291-10293)Ggg>Agg p.G3431R CSMD2_uc001bxn.1_Missense_Mutation_p.G3287R NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA. 3287 integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) TGCTTCTTCCCCTGGTATTCA 0.512000 108 79 0 0 1 0 0 C3 718 broad.mit.edu 37 19 6682195 6682195 + Silent SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr19:6682195G>A uc002mfm.3 - 33 4280 c.4218C>T c.(4216-4218)tcC>tcT p.S1406S NM_000064 NP_000055 P01024 CO3_HUMAN Homo sapiens complement component 3 (C3), mRNA. 1406 G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) CAGTCATCATGGATATGTCCA 0.542000 78 19 0 0 1 0 0 ALOX15B 247 broad.mit.edu 37 17 7950012 7950012 + Silent SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr17:7950012C>T uc002gju.3 + 8 1343 c.1227C>T c.(1225-1227)acC>acT p.T409T ALOX15B_uc002gjv.3_Intron|ALOX15B_uc002gjw.3_Intron|ALOX15B_uc010vun.2_Silent_p.T409T|ALOX15B_uc010cnp.3_Silent_p.T215T NM_001141 NP_001132 O15296 LX15B_HUMAN Homo sapiens arachidonate 15-lipoxygenase, type B (ALOX15B), transcript variant d, mRNA. 409 Lipoxygenase. induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation cytoplasm arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 24 CCCGATACACCCTGCACATCA 0.627000 24 9 0 0 1 0 0 LRRC30 339291 broad.mit.edu 37 18 7231617 7231617 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr18:7231617G>A uc010wzk.2 + 0 481 c.481G>A c.(481-483)Gac>Aac p.D161N NM_001105581 NP_001099051 A6NM36 LRC30_HUMAN Homo sapiens leucine rich repeat containing 30 (LRRC30), mRNA. 161 p.D161N(2)|p.A160A(1) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3) 31 ATGCTTCGCCGACCTCTCTAG 0.572000 77 14 0 0 1 0 0 TAP2 6891 broad.mit.edu 37 6 32805546 32805546 + Silent SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr6:32805546G>A uc011dqf.1 - 1 587 c.465C>T c.(463-465)gcC>gcT p.A155A TAP2_uc003ocb.1_Silent_p.A155A|TAP2_uc003occ.3_Silent_p.A155A|TAP2_uc003ocd.3_Silent_p.A155A NM_018833 NP_061313 Q03519 TAP2_HUMAN Homo sapiens transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) (TAP2), transcript variant 2, mRNA. 155 ABC transmembrane type-1. antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of T cell mediated cytotoxicity|positive regulation of antigen processing and presentation of peptide antigen via MHC class I TAP complex|nucleus|plasma membrane ATP binding|MHC class I protein binding|TAP1 binding|TAP2 binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|tapasin binding GGAAGAAGAAGGCGGCAACGA 0.552000 58 15 0 0 1 0 0 SACS 26278 broad.mit.edu 37 13 23915199 23915199 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr13:23915199G>A uc001uon.2 - 9 3405 c.2816C>T c.(2815-2817)tCc>tTc p.S939F SACS_uc001uoo.2_Missense_Mutation_p.S792F|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA. 939 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) TGTATAAGAGGAAATTCCCTG 0.363000 88 19 0 0 1 0 0 TECTA 7007 broad.mit.edu 37 11 120998980 120998980 + Nonsense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr11:120998980G>A uc010rzo.2 + 7 2294 c.2294G>A c.(2293-2295)tGg>tAg p.W765* NM_005422 NP_005413 O75443 TECTA_HUMAN Homo sapiens tectorin alpha (TECTA), mRNA. 765 VWFD 2. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) GGACCTGCTTGGCTGCGGGGA 0.592000 51 19 0 0 1 0 0 KCNQ5 56479 broad.mit.edu 37 6 73904250 73904250 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr6:73904250G>A uc011dyh.2 + 14 2316 c.1969G>A c.(1969-1971)Gcc>Acc p.A657T KCNQ5_uc011dyi.2_Missense_Mutation_p.A648T|KCNQ5_uc010kat.3_Missense_Mutation_p.A629T|KCNQ5_uc003pgk.3_Missense_Mutation_p.A638T|KCNQ5_uc011dyj.2_Missense_Mutation_p.A528T|KCNQ5_uc011dyk.2_Missense_Mutation_p.A388T NM_001160133 NP_001153605 Q9NR82 KCNQ5_HUMAN Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA. 638 protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) CTCTGCCTCAGCCCTCGCTTT 0.478000 60 15 0 0 1 0 0 GPRIN2 9721 broad.mit.edu 37 10 46998916 46998916 + Silent SNP A C C TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr10:46998916A>C uc001jec.3 + 2 171 c.36A>C c.(34-36)gcA>gcC p.A12A GPRIN2_uc021ppt.1_Silent_p.A12A NM_014696 NP_055511 O60269 GRIN2_HUMAN Homo sapiens G protein regulated inducer of neurite outgrowth 2 (GPRIN2), mRNA. 12 breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1) 18 GTCCCTGGGCACCCCTGAGCC 0.662000 130 14 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10443321 10443321 + Silent SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr17:10443321C>T uc010coi.3 - 11 1199 c.1071G>A c.(1069-1071)ggG>ggA p.G357G AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.G357G|MYH2_uc010coj.3_Silent_p.G357G NM_001100112 NP_060004 Q9UKX2 MYH2_HUMAN Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA. 357 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.T356K(1) NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 GCATCACAGCCCCCGTGAGCT 0.423000 174 53 0 0 1 0 0 CASC5 57082 broad.mit.edu 37 15 40913497 40913497 + Missense_Mutation SNP T G G TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr15:40913497T>G uc010bbs.1 + 10 1274 c.1113T>G c.(1111-1113)aaT>aaG p.N371K CASC5_uc010ucq.1_Missense_Mutation_p.N195K|CASC5_uc001zme.3_Missense_Mutation_p.N345K|CASC5_uc010bbt.1_Missense_Mutation_p.N345K NM_170589 NP_733468 Q8NG31 CASC5_HUMAN Homo sapiens cancer susceptibility candidate 5 (CASC5), transcript variant 1, mRNA. 371 Interaction with BUB1 and BUB1B. CenH3-containing nucleosome assembly at centromere|acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|mitotic prometaphase|spindle assembly checkpoint acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm protein binding NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211) AAACTCAGAATGCCATGGATG 0.328000 75 22 0 0 1 0 0 PCNX 22990 broad.mit.edu 37 14 71444685 71444685 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr14:71444685C>T uc001xmo.2 + 5 2077 c.1631C>T c.(1630-1632)cCt>cTt p.P544L PCNX_uc001xmn.4_Missense_Mutation_p.P544L|PCNX_uc010are.1_Missense_Mutation_p.P544L NM_014982 NP_055797 Q96RV3 PCX1_HUMAN Homo sapiens pecanex homolog (Drosophila) (PCNX), mRNA. 544 integral to membrane p.R543Q(1) NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1) 87 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) GATGTTCGACCTAAATCTTCT 0.463000 146 42 0 0 1 0 0 CEBPE 1053 broad.mit.edu 37 14 23588291 23588291 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr14:23588291C>T uc001wiv.2 - 0 530 c.10G>A c.(10-12)Ggg>Agg p.G4R NM_001805 NP_001796 Q15744 CEBPE_HUMAN Homo sapiens CCAAT/enhancer binding protein (C/EBP), epsilon (CEBPE), mRNA. 4 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1) 9 all_cancers(95;4.6e-05) GBM - Glioblastoma multiforme(265;0.0064) TAGTAGGTCCCGTGGGACATG 0.701000 12 8 0 0 1 0 0 COL21A1 81578 broad.mit.edu 37 6 55933887 55933887 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr6:55933887C>T uc003pcs.3 - 21 2280 c.2048G>A c.(2047-2049)gGa>gAa p.G683E COL21A1_uc010jzz.3_Missense_Mutation_p.G68E|COL21A1_uc011dxg.2_Missense_Mutation_p.G68E|COL21A1_uc011dxh.2_Missense_Mutation_p.G68E|COL21A1_uc003pcr.3_Missense_Mutation_p.E41K NM_030820 NP_110447 Q96P44 COLA1_HUMAN Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA. 683 Collagen-like 4. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2) 41 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) TCCTGGTTCTCCTGGGGAACC 0.418000 15 4 0 0 1 0 0 FBXW7 55294 broad.mit.edu 37 4 153332598 153332598 + Nonsense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr4:153332598G>A uc003ims.3 - 1 520 c.358C>T c.(358-360)Cag>Tag p.Q120* FBXW7_uc011cii.2_Nonsense_Mutation_p.Q120*|FBXW7_uc003imt.3_Nonsense_Mutation_p.Q120*|FBXW7_uc003imu.3_Nonsense_Mutation_p.Q120*|FBXW7_uc021xsx.1_Nonsense_Mutation_p.Q120*|FBXW7_uc021xsy.1_Nonsense_Mutation_p.Q120*|FBXW7_uc021xsz.1_Nonsense_Mutation_p.Q120*|FBXW7_uc021xta.1_Nonsense_Mutation_p.Q120*|FBXW7_uc021xtb.1_Nonsense_Mutation_p.Q120*|FBXW7_uc021xtc.1_Nonsense_Mutation_p.Q120* NM_033632 NP_361014 Q969H0 FBXW7_HUMAN Homo sapiens F-box and WD repeat domain containing 7 (FBXW7), transcript variant 1, mRNA. 120 SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of Notch signaling pathway|negative regulation of hepatocyte proliferation|negative regulation of triglyceride biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of epidermal growth factor receptor activity|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|sister chromatid cohesion|vasculature development SCF ubiquitin ligase complex|nucleolus|nucleoplasm protein binding NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6) 462 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) TCACTCTCCTGGTCCATctcc 0.463000 """Mis, N, D, F""" """colorectal, endometrial, T-ALL""" 57 13 0 0 1 0 0 DSG4 147409 broad.mit.edu 37 18 28966761 28966761 + Silent SNP G C C TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr18:28966761G>C uc002kwr.2 + 2 330 c.195G>C c.(193-195)tcG>tcC p.S65S DSG4_uc002kwq.2_Silent_p.S65S NM_001134453 NP_001127925 Q86SJ6 DSG4_HUMAN Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA. 65 Cadherin 1. homophilic cell adhesion desmosome|integral to membrane calcium ion binding NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) AGGACAACTCGAAGAGGAACC 0.448000 68 29 0 0 1 0 0 STXBP5L 9515 broad.mit.edu 37 3 120977920 120977920 + Silent SNP A G G TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr3:120977920A>G uc003eec.4 + 17 2003 c.1863A>G c.(1861-1863)ccA>ccG p.P621P STXBP5L_uc011bji.2_Silent_p.P621P NM_014980 NP_055795 Q9Y2K9 STB5L_HUMAN Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA. 621 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) GAATGCCTCCAGGATATCAAG 0.378000 45 10 0 0 1 0 0 IL20RB 53833 broad.mit.edu 37 3 136714338 136714338 + Nonsense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr3:136714338G>A uc003eri.2 + 5 1014 c.765G>A c.(763-765)tgG>tgA p.W255* IL20RB_uc003erj.2_Non-coding_Transcript|IL20RB_uc010hud.2_Nonsense_Mutation_p.W113* NM_144717 NP_653318 Q6UXL0 I20RB_HUMAN Homo sapiens interleukin 20 receptor beta (IL20RB), mRNA. 255 integral to membrane receptor activity kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 TGTTCGTCTGGAAAATGGGCC 0.502000 234 65 0 0 1 0 0 PDE10A 10846 broad.mit.edu 37 6 165832235 165832235 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr6:165832235G>A uc003qun.3 - 11 1101 c.856C>T c.(856-858)Cgt>Tgt p.R286C PDE10A_uc011egj.2_Non-coding_Transcript|PDE10A_uc011egk.2_Missense_Mutation_p.R216C|PDE10A_uc003quo.3_Missense_Mutation_p.R296C NM_006661 NP_006652 Q9Y233 PDE10_HUMAN RecName: Full=cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A; EC=3.1.4.17; EC=3.1.4.35; 286 Allosteric effector binding.|GAF 2. platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 71 Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221) OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05) Dipyridamole(DB00975) AGCGCACAACGATCGGCATTC 0.373000 39 16 0 0 1 0 0 HIVEP3 59269 broad.mit.edu 37 1 41978972 41978972 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr1:41978972C>T uc001cgz.4 - 7 7133 c.5920G>A c.(5920-5922)Gaa>Aaa p.E1974K HIVEP3_uc001cha.4_Missense_Mutation_p.E1974K|HIVEP3_uc001cgy.3_Non-coding_Transcript NM_024503 NP_078779 Q5T1R4 ZEP3_HUMAN Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA. 1974 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) CTGCCTGCTTCTTTGCTTGGG 0.617000 67 40 0 0 1 0 0 SPEF2 79925 broad.mit.edu 37 5 35727852 35727852 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr5:35727852C>T uc003jjo.3 + 20 3101 c.2990C>T c.(2989-2991)cCt>cTt p.P997L SPEF2_uc003jjp.1_Missense_Mutation_p.P483L NM_024867 NP_079143 Q9C093 SPEF2_HUMAN Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA. 997 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GATACATCACCTGTTGCAATA 0.418000 92 25 0 0 1 0 0 PPRC1 23082 broad.mit.edu 37 10 103901026 103901026 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr10:103901026C>T uc001kum.3 + 4 2800 c.2761C>T c.(2761-2763)Cca>Tca p.P921S PPRC1_uc001kun.3_Missense_Mutation_p.P801S|PPRC1_uc010qqj.2_Missense_Mutation_p.P921S|PPRC1_uc009xxa.3_Non-coding_Transcript NM_015062 NP_055877 Q5VV67 PPRC1_HUMAN Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator-related 1 (PPRC1), mRNA. 921 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus RNA binding|nucleotide binding central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 56 Colorectal(252;0.122) Epithelial(162;4.97e-08)|all cancers(201;8.99e-07) TGCCCCCTTGCCATCCTGGCC 0.592000 72 16 0 0 1 0 0 TM9SF4 9777 broad.mit.edu 37 20 30734616 30734616 + Silent SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr20:30734616C>T uc002wxj.2 + 8 1147 c.912C>T c.(910-912)acC>acT p.T304T TM9SF4_uc010ztr.1_Silent_p.T230T|TM9SF4_uc010zts.1_Silent_p.T211T|TM9SF4_uc002wxk.2_Silent_p.T287T NM_014742 NP_055557 Q92544 TM9S4_HUMAN Homo sapiens transmembrane 9 superfamily protein member 4 (TM9SF4), mRNA. 304 integral to membrane central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) TCATTCGGACCCTCCGGAAGG 0.547000 35 7 0 0 1 0 0 TOX2 84969 broad.mit.edu 37 20 42683150 42683150 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr20:42683150G>A uc010ggo.3 + 4 903 c.863G>A c.(862-864)gGa>gAa p.G288E TOX2_uc002xle.4_Missense_Mutation_p.G246E|TOX2_uc010ggp.3_Missense_Mutation_p.G246E|TOX2_uc002xlf.4_Missense_Mutation_p.G297E|TOX2_uc010zwk.2_Missense_Mutation_p.G166E NM_001098797 NP_116272 Q96NM4 TOX2_HUMAN Homo sapiens TOX high mobility group box family member 2 (TOX2), transcript variant 1, mRNA. 297 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2) 26 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.00189) GACAGCCTGGGAGAGGAACAG 0.567000 28 10 0 0 1 0 0 SRRM2 23524 broad.mit.edu 37 16 2813624 2813624 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr16:2813624C>T uc002crk.3 + 10 3644 c.3095C>T c.(3094-3096)tCc>tTc p.S1032F SRRM2_uc002crj.1_Missense_Mutation_p.S936F|SRRM2_uc002crl.1_Missense_Mutation_p.S1032F|SRRM2_uc010bsu.1_Missense_Mutation_p.S936F NM_016333 NP_057417 Q9UQ35 SRRM2_HUMAN Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA. 1032 Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|RNA binding|protein N-terminus binding breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7) 105 TGCCCTGGATCCCTCTCTCTC 0.483000 109 35 0 0 1 0 0 FAM188B 84182 broad.mit.edu 37 7 30831093 30831094 + Missense_Mutation DNP CC AT AT TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr7:30831093_30831094CC>AT uc003tbt.3 + 4 1053_1054 c.976_977CC>AT c.(976-978)ccc>ATc p.P326I FAM188B_uc010kwe.3_Missense_Mutation_p.P297I NM_032222 NP_115598 Q4G0A6 F188B_HUMAN Homo sapiens family with sequence similarity 188, member B (FAM188B), mRNA. 326 endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 GGACAGGATGCCCTTGAAGCTC 0.634000 29 13 0 0 1 0 0 COL11A1 1301 broad.mit.edu 37 1 103354185 103354185 + Splice_Site SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr1:103354185C>T uc001dum.3 - 62 4909 c.4591_splice c.e62-1 p.G1531_splice COL11A1_uc001duk.3_Splice_Site_p.G715_splice|COL11A1_uc001dul.3_Splice_Site_p.G1519_splice|COL11A1_uc001dun.3_Splice_Site_p.G1480_splice|COL11A1_uc009weh.3_Splice_Site_p.G1403_splice NM_080629 NP_542196 P12107 COBA1_HUMAN Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA. 1519 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) GCCAGCGGGTCCCTGTTAGAA 0.413000 42 12 0 0 1 0 0 KIAA0226 9711 broad.mit.edu 37 3 197402345 197402345 + Missense_Mutation SNP A C C TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr3:197402345A>C uc003fyc.2 - 18 2871 c.2688T>G c.(2686-2688)aaT>aaG p.N896K KIAA0226_uc003fyd.3_Missense_Mutation_p.N851K|KIAA0226_uc021xjw.1_5'Flank NM_014687 NP_055502 Q92622 RUBIC_HUMAN Homo sapiens KIAA0226 (KIAA0226), transcript variant 2, mRNA. 896 Cys-rich. autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis early endosome|late endosome|lysosome protein binding NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(93;0.0446) TGTCATCCTCATTCTGACAGA 0.547000 201 60 0 0 1 0 0 MARCO 8685 broad.mit.edu 37 2 119739977 119739977 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr2:119739977G>A uc002tln.1 + 11 1186 c.1054G>A c.(1054-1056)Ggg>Agg p.G352R MARCO_uc010yyf.1_Missense_Mutation_p.G274R NM_006770 NP_006761 Q9UEW3 MARCO_HUMAN Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA. 352 Collagen-like. cell surface receptor linked signaling pathway|innate immune response collagen|integral to plasma membrane pattern recognition receptor activity|scavenger receptor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 70 AGGAAGCAAAGGGGACACAGG 0.582000 142 41 0 0 1 0 0 MBL1P 8512 broad.mit.edu 37 10 81680768 81680768 + RNA SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr10:81680768G>A uc021puw.1 + 3 c.611G>A MBL1P_uc001kbg.1_Non-coding_Transcript Homo sapiens BMS1 homolog, ribosome assembly protein (yeast) pseudogene (LOC100288974), non-coding RNA. GGAAACACAGGGACTTCTGGA 0.597000 11 5 0 0 1 0 0 DCLK3 85443 broad.mit.edu 37 3 36756934 36756934 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr3:36756934G>A uc003cgi.2 - 4 2323 c.1832C>T c.(1831-1833)cCc>cTc p.P611L NM_033403 NP_208382 Q9C098 DCLK3_HUMAN Homo sapiens doublecortin-like kinase 3 (DCLK3), mRNA. 611 Protein kinase. cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 48 TTCGATCCAGGGGTGCTGAAG 0.552000 56 17 0 0 1 0 0 SCN3A 6328 broad.mit.edu 37 2 166026969 166026969 + Silent SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr2:166026969C>T uc002ucx.3 - 3 846 c.354G>A c.(352-354)agG>agA p.R118R SCN3A_uc002ucy.3_Silent_p.R118R|SCN3A_uc002ucz.3_Silent_p.R118R|SCN3A_uc002uda.1_5'Flank|SCN3A_uc002udb.1_5'Flank NM_006922 NP_008853 Q9NY46 SCN3A_HUMAN Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA. 118 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) TAGCAATTTTCCTAACAGGGT 0.303000 42 14 0 0 1 0 0 PAPPA 5069 broad.mit.edu 37 9 119106834 119106834 + Silent SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr9:119106834C>T uc004bjn.3 + 13 4005 c.3624C>T c.(3622-3624)ttC>ttT p.F1208F PAPPA_uc011lxq.2_Silent_p.F583F NM_002581 NP_002572 Q13219 PAPP1_HUMAN Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA. 1208 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 GCGTGCACTTCGCATGTGAGA 0.532000 113 31 0 0 1 0 0 PCSK4 54760 broad.mit.edu 37 19 1481873 1481873 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr19:1481873G>A uc002ltb.1 - 14 2215 c.2153C>T c.(2152-2154)aCc>aTc p.T718I C19orf25_uc010xgn.1_5'Flank|C19orf25_uc010dsk.3_5'Flank|C19orf25_uc010xgo.2_5'Flank|PCSK4_uc002lsz.2_Missense_Mutation_p.T205I|PCSK4_uc002lta.2_3'UTR NM_017573 NP_060043 Q6UW60 PCSK4_HUMAN Homo sapiens proprotein convertase subtilisin/kexin type 4 (PCSK4), mRNA. 718 proteolysis integral to membrane serine-type endopeptidase activity cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 15 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCCTCCGAGGGTCACGGCCAG 0.716000 16 5 0 0 1 0 0 FAM151B 167555 broad.mit.edu 37 5 79837533 79837533 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr5:79837533C>T uc003kgv.2 + 5 856 c.713C>T c.(712-714)tCc>tTc p.S238F FAM151B_uc010jal.2_Non-coding_Transcript NM_205548 NP_991111 Q6UXP7 F151B_HUMAN Homo sapiens family with sequence similarity 151, member B (FAM151B), mRNA. 238 breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1) 7 Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113) OV - Ovarian serous cystadenocarcinoma(54;8.21e-47)|Epithelial(54;8.3e-42)|all cancers(79;1.97e-36) GATAACTATTCCGTTGAAGAT 0.328000 28 5 0 0 1 0 0 PRR12 57479 broad.mit.edu 37 19 50105096 50105096 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr19:50105096C>T uc002poo.4 + 5 4694 c.4694C>T c.(4693-4695)gCc>gTc p.A1565V NM_020719 NP_065770 Q9ULL5 PRR12_HUMAN Homo sapiens proline rich 12 (PRR12), mRNA. 744 DNA binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2) 11 all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132) GACGAGGAGGCCGGCGAGAGT 0.667000 19 9 0 0 1 0 0 ITGA2B 3674 broad.mit.edu 37 17 42449740 42449740 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr17:42449740C>T uc002igt.1 - 29 3144 c.3112G>A c.(3112-3114)Ggg>Agg p.G1038R NM_000419 NP_000410 P08514 ITA2B_HUMAN Homo sapiens integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) (ITGA2B), mRNA. 1038 axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation integrin complex|platelet alpha granule membrane identical protein binding|receptor activity p.E1037K(1) biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.191) Tirofiban(DB00775) CATCACTCCCCCTCTTCATCA 0.582000 28 5 0 0 1 0 0 RNF128 79589 broad.mit.edu 37 X 106034423 106034423 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chrX:106034423G>A uc004eml.3 + 5 1362 c.1112G>A c.(1111-1113)gGa>gAa p.G371E RNF128_uc004emk.3_Missense_Mutation_p.G345E NM_194463 NP_919445 Q8TEB7 RN128_HUMAN Homo sapiens ring finger protein 128 (RNF128), transcript variant 1, mRNA. 371 endomembrane system|integral to membrane|perinuclear region of cytoplasm zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1) 11 TCAGTACAGGGAACAGATGAA 0.458000 176 47 0 0 1 0 0 SEC24B 10427 broad.mit.edu 37 4 110442725 110442725 + Silent SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr4:110442725C>T uc003hzk.3 + 13 2506 c.2451C>T c.(2449-2451)tcC>tcT p.S817S SEC24B_uc003hzl.3_Silent_p.S782S|SEC24B_uc011cfp.2_Silent_p.S847S|SEC24B_uc011cfq.2_Silent_p.S816S|SEC24B_uc011cfr.2_Silent_p.S781S NM_006323 NP_006314 O95487 SC24B_HUMAN Homo sapiens SEC24 family, member B (S. cerevisiae) (SEC24B), transcript variant 1, mRNA. 817 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm protein binding|transporter activity|zinc ion binding breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;3.03e-05) AGTTACCTTCCTTGGGTGCAG 0.413000 41 15 0 0 1 0 0 OR4A5 81318 broad.mit.edu 37 11 51411750 51411750 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr11:51411750C>T uc001nhi.2 - 0 699 c.646G>A c.(646-648)Gga>Aga p.G216R NM_001005272 NP_001005272 Q8NH83 OR4A5_HUMAN Homo sapiens olfactory receptor, family 4, subfamily A, member 5 (OR4A5), mRNA. 216 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 49 all_lung(304;0.236) AGGATGACTCCATAGGAGATT 0.448000 79 23 0 0 1 0 0 MYO18B 84700 broad.mit.edu 37 22 26228956 26228956 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr22:26228956C>T uc003abz.1 + 15 3302 c.3052C>T c.(3052-3054)Ccc>Tcc p.P1018S MYO18B_uc003aca.1_Missense_Mutation_p.P899S|MYO18B_uc010guy.1_Missense_Mutation_p.P899S|MYO18B_uc010guz.1_Missense_Mutation_p.P899S|MYO18B_uc011aka.1_Missense_Mutation_p.P172S|MYO18B_uc011akb.1_Missense_Mutation_p.P531S NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN Homo sapiens myosin XVIIIB (MYO18B), mRNA. 1018 Myosin head-like. nucleus|sarcomere|unconventional myosin complex ATP binding|actin binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 GGATCAAAATCCCTCTCAGGT 0.502000 57 9 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113259285 113259285 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr8:113259285C>T uc003ynu.3 - 63 10345 c.10186G>A c.(10186-10188)Gat>Aat p.D3396N CSMD3_uc003yns.3_Missense_Mutation_p.D2598N|CSMD3_uc003ynt.3_Missense_Mutation_p.D3356N|CSMD3_uc011lhx.2_Missense_Mutation_p.D3227N NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA. 3396 Sushi 27. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 CACGTAAGATCAGGGAGGCAG 0.398000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 50 9 0 0 1 0 0 MSH6 2956 broad.mit.edu 37 2 48023039 48023039 + Missense_Mutation SNP A G G TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr2:48023039A>G uc002rwd.4 + 2 616 c.464A>G c.(463-465)aAa>aGa p.K155R MSH6_uc002rwc.2_Missense_Mutation_p.K155R|MSH6_uc010fbj.3_Intron|MSH6_uc010yoj.2_5'UTR NM_000179 NP_000170 P52701 MSH6_HUMAN Homo sapiens mutS homolog 6 (E. coli) (MSH6), mRNA. 155 DNA damage response, signal transduction resulting in induction of apoptosis|determination of adult lifespan|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes MutSalpha complex ATP binding|DNA-dependent ATPase activity|protein binding p.0?(2) breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 229 Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) CTAGGTTCAAAATCAAAGGAA 0.438000 """Mis, N, F, S""" colorectal """colorectal, endometrial, ovarian""" Mismatch excision repair (MMR) Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 44 6 0 0 1 0 0 SCN4A 6329 broad.mit.edu 37 17 62038750 62038750 + Missense_Mutation SNP T G G TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr17:62038750T>G uc002jds.1 - 10 1725 c.1648A>C c.(1648-1650)Aag>Cag p.K550Q NM_000334 NP_000325 P35499 SCN4A_HUMAN Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA. 550 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 101 Lamotrigine(DB00555) TGGGCGCACTTGTACCACCAT 0.582000 203 49 0 0 1 0 0 GPR124 25960 broad.mit.edu 37 8 37688326 37688326 + Silent SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr8:37688326C>T uc003xkj.3 + 6 1203 c.817C>T c.(817-819)Ctg>Ttg p.L273L GPR124_uc010lvy.3_Silent_p.L273L NM_032777 NP_116166 Q96PE1 GP124_HUMAN Homo sapiens G protein-coupled receptor 124 (GPR124), mRNA. 273 Ig-like. central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 37 BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10) TGCCAGCTACCTGGGCAACGA 0.657000 8 6 0 0 1 0 0 OR4C6 219432 broad.mit.edu 37 11 55433330 55433330 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr11:55433330G>A uc010rik.2 + 0 688 c.688G>A c.(688-690)Ggg>Agg p.G230R NM_001004704 NP_001004704 Q8NH72 OR4C6_HUMAN Homo sapiens olfactory receptor, family 4, subfamily C, member 6 (OR4C6), mRNA. 230 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 71 CAGCTCTAAAGGGCGGCACAA 0.493000 103 22 0 0 1 0 0 ZNF560 147741 broad.mit.edu 37 19 9578750 9578750 + Silent SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr19:9578750G>A uc002mlp.1 - 9 1083 c.873C>T c.(871-873)tcC>tcT p.S291S ZNF560_uc010dwr.1_Silent_p.S185S NM_152476 NP_689689 Q96MR9 ZN560_HUMAN Homo sapiens zinc finger protein 560 (ZNF560), mRNA. 291 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 65 TGCCTTCAAAGGATTTATCTT 0.393000 106 34 0 0 1 0 0 LNPEP 4012 broad.mit.edu 37 5 96342189 96342189 + Nonsense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr5:96342189C>T uc003kmv.1 + 10 2519 c.2005C>T c.(2005-2007)Caa>Taa p.Q669* LNPEP_uc003kmw.1_Nonsense_Mutation_p.Q655* NM_005575 NP_787116 Q9UIQ6 LCAP_HUMAN Homo sapiens leucyl/cystinyl aminopeptidase (LNPEP), transcript variant 1, mRNA. 669 cell-cell signaling|female pregnancy|proteolysis extracellular region|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 34 all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244) COAD - Colon adenocarcinoma(37;0.072) TTCAAAATATCAATCGGTATC 0.303000 30 17 0 0 1 0 0 SPINK5 11005 broad.mit.edu 37 5 147488344 147488344 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr5:147488344G>A uc003lox.2 + 17 1709 c.1636G>A c.(1636-1638)Gat>Aat p.D546N SPINK5_uc010jgs.1_Missense_Mutation_p.D518N|SPINK5_uc010jgr.2_Missense_Mutation_p.D527N|SPINK5_uc003low.2_Missense_Mutation_p.D546N|SPINK5_uc003loy.2_Missense_Mutation_p.D546N NM_006846 NP_006837 Q9NQ38 ISK5_HUMAN Homo sapiens serine peptidase inhibitor, Kazal type 5 (SPINK5), transcript variant 2, mRNA. 546 Kazal-like 8. anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm serine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) gaagaaaaatgataaagaaga 0.333000 94 23 0 0 1 0 0 TMEM202 338949 broad.mit.edu 37 15 72690748 72690748 + Splice_Site SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr15:72690748G>A uc002auq.3 + 1 81 c.81_splice c.e1+1 p.R27_splice TMEM202_uc002aur.3_Splice_Site NM_001080462 NP_001073931 A6NGA9 TM202_HUMAN Homo sapiens transmembrane protein 202 (TMEM202), mRNA. 27 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 18 AATACCAAAGGGTGAGGAGGT 0.433000 20 7 0 0 1 0 0 CA10 56934 broad.mit.edu 37 17 49825013 49825013 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr17:49825013C>T uc002itv.4 - 4 1199 c.463G>A c.(463-465)Gga>Aga p.G155R CA10_uc002itw.4_Missense_Mutation_p.G149R|CA10_uc002itx.4_Missense_Mutation_p.G149R|CA10_uc002ity.4_Missense_Mutation_p.G149R|CA10_uc002itz.2_Missense_Mutation_p.G149R NM_020178 NP_064563 Q9NS85 CAH10_HUMAN Homo sapiens carbonic anhydrase X (CA10), transcript variant 2, mRNA. 149 brain development cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(22;4.74e-06) AAGGCCTGTCCATTGAGGAGG 0.502000 138 33 0 0 1 0 0 PRKG1 5592 broad.mit.edu 37 10 54050045 54050045 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr10:54050045C>T uc001jjm.3 + 16 2140 c.1912C>T c.(1912-1914)Cca>Tca p.P638S PRKG1_uc001jjo.3_Missense_Mutation_p.P653S|PRKG1_uc009xow.2_Missense_Mutation_p.P356S|LOC100506939_uc021pqu.1_Intron NM_001098512 NP_001091982 Q13976 KGP1_HUMAN Homo sapiens protein kinase, cGMP-dependent, type I (PRKG1), transcript variant 1, mRNA. 638 AGC-kinase C-terminal. actin cytoskeleton organization|platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 53 all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173) all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606) TCCTATAATACCAAGTGTAAG 0.333000 88 27 0 0 1 0 0 MYOC 4653 broad.mit.edu 37 1 171621186 171621186 + Missense_Mutation SNP C T T rs144579767 TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr1:171621186C>T uc001ghu.3 - 0 588 c.566G>A c.(565-567)cGa>cAa p.R189Q MYOC_uc010pmk.2_Missense_Mutation_p.R131Q NM_000261 NP_000252 Q99972 MYOC_HUMAN Homo sapiens myocilin, trabecular meshwork inducible glucocorticoid response (MYOC), mRNA. 189 R -> Q. anatomical structure morphogenesis cilium|extracellular space|rough endoplasmic reticulum structural molecule activity p.R189L(2)|p.R189R(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2) 28 all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181) AGCAGTGTCTCGGGTCTGGGG 0.567000 242 67 0 0 1 0 0 DSEL 92126 broad.mit.edu 37 18 65180387 65180387 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr18:65180387C>T uc002lke.1 - 1 2713 c.1489G>A c.(1489-1491)Gaa>Aaa p.E497K DSEL_uc021ulg.1_Missense_Mutation_p.E497K NM_032160 NP_115536 Q8IZU8 DSEL_HUMAN Homo sapiens dermatan sulfate epimerase-like (DSEL), mRNA. 487 integral to membrane isomerase activity|sulfotransferase activity NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129) TAGAGAGCTTCAGAAACAAAT 0.453000 95 23 0 0 1 0 0 MB 4151 broad.mit.edu 37 22 36003385 36003385 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr22:36003385C>T uc003anz.3 - 2 504 c.424G>A c.(424-426)Gac>Aac p.D142N MB_uc003aoa.3_Missense_Mutation_p.D142N|MB_uc003aob.3_Missense_Mutation_p.D142N NM_005368 NP_976312 P02144 MYG_HUMAN Homo sapiens myoglobin (MB), transcript variant 1, mRNA. 142 heme binding|oxygen transporter activity lung(1) 1 GAGGCCATGTCCTTCCGGAAC 0.637000 39 7 0 0 1 0 0 LTBP1 4052 broad.mit.edu 37 2 33505195 33505195 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr2:33505195G>A uc021vft.1 + 18 3105 c.3082G>A c.(3082-3084)Gga>Aga p.G1028R LTBP1_uc002rou.3_Missense_Mutation_p.G702R|LTBP1_uc002rov.3_Missense_Mutation_p.G649R|LTBP1_uc010ymz.2_Missense_Mutation_p.G702R|LTBP1_uc010yna.2_Missense_Mutation_p.G649R NM_206943 NP_996826 Q14766 LTBP1_HUMAN Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA. 1028 EGF-like 7; calcium-binding (Potential). negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3) 108 all_hematologic(175;0.115) Medulloblastoma(90;0.215) CTGCACAGAAGGATTCCGAGG 0.428000 68 22 0 0 1 0 0 SIDT1 54847 broad.mit.edu 37 3 113320486 113320486 + Missense_Mutation SNP G T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr3:113320486G>T uc021xcn.1 + 10 1748 c.1097G>T c.(1096-1098)gGg>gTg p.G366V SIDT1_uc011bif.1_Non-coding_Transcript|SIDT1_uc003eak.3_Missense_Mutation_p.G366V|SIDT1_uc011big.2_Missense_Mutation_p.G119V|SIDT1_uc021xcq.1_5'Flank NM_017699 NP_060169 Q9NXL6 SIDT1_HUMAN Homo sapiens SID1 transmembrane family, member 1 (SIDT1), mRNA. 366 integral to membrane breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 ACACCCGAAGGGAGCAATTAT 0.428000 43 15 1.3612e-06 1.37171e-06 1 1 0 KDR 3791 broad.mit.edu 37 4 55972865 55972865 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr4:55972865C>T uc003has.3 - 10 1827 c.1525G>A c.(1525-1527)Gga>Aga p.G509R KDR_uc003hat.1_Missense_Mutation_p.G509R|KDR_uc011bzx.2_Missense_Mutation_p.G509R NM_002253 NP_002244 P35968 VGFR2_HUMAN Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA. 509 Ig-like C2-type 5. angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) TTGTTTTTTCCTTCAATTAGA 0.323000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 31 10 0 0 1 0 0 C3orf15 89876 broad.mit.edu 37 3 119445028 119445028 + Silent SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr3:119445028C>T uc003ede.4 + 6 770 c.693C>T c.(691-693)ctC>ctT p.L231L C3orf15_uc010hqy.2_Silent_p.L231L|C3orf15_uc010hqz.3_Silent_p.L169L|C3orf15_uc011bjd.2_Silent_p.L105L|C3orf15_uc011bje.2_Silent_p.L211L|C3orf15_uc010hra.2_5'UTR NM_033364 NP_203528 Q7Z4T9 AAT1_HUMAN Homo sapiens chromosome 3 open reading frame 15 (C3orf15), mRNA. 231 mitochondrion protein binding NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 GBM - Glioblastoma multiforme(114;0.186) GTCGGGGTCTCCCAGCAGGAC 0.547000 21 5 0 0 1 0 0 SLC15A1 6564 broad.mit.edu 37 13 99358483 99358483 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr13:99358483C>T uc001vno.3 - 15 1251 c.1174G>A c.(1174-1176)Gga>Aga p.G392R NM_005073 NP_005064 P46059 S15A1_HUMAN Homo sapiens solute carrier family 15 (oligopeptide transporter), member 1 (SLC15A1), mRNA. 392 digestion|protein transport integral to plasma membrane|membrane fraction peptide:hydrogen symporter activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000) ACTTCGTTTCCTTTGGGGAAG 0.393000 48 18 0 0 1 0 0 PDE6C 5146 broad.mit.edu 37 10 95372700 95372700 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr10:95372700G>A uc001kiu.4 + 0 356 c.218G>A c.(217-219)gGg>gAg p.G73E NM_006204 NP_006195 P51160 PDE6C_HUMAN Homo sapiens phosphodiesterase 6C, cGMP-specific, cone, alpha prime (PDE6C), mRNA. 73 visual perception plasma membrane 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 42 Colorectal(252;0.123) CAGGAGGAGGGGGGCACCCCA 0.672000 38 10 0 0 1 0 0 PPP2R4 5524 broad.mit.edu 37 9 131891325 131891325 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr9:131891325C>T uc004bxm.2 + 4 670 c.383C>T c.(382-384)cCa>cTa p.P128L PPP2R4_uc004bxl.2_Missense_Mutation_p.P93L|PPP2R4_uc011mbo.2_Missense_Mutation_p.P128L|PPP2R4_uc010myr.2_Intron|PPP2R4_uc004bxn.2_Missense_Mutation_p.P93L|PPP2R4_uc004bxo.2_Intron|PPP2R4_uc011mbp.2_Missense_Mutation_p.P64L|PPP2R4_uc011mbq.1_Intron|PPP2R4_uc010mys.2_Missense_Mutation_p.P58L NM_178001 NP_821068 Q15257 PTPA_HUMAN Homo sapiens protein phosphatase 2A activator, regulatory subunit 4 (PPP2R4), transcript variant 1, mRNA. 128 ATP catabolic process|negative regulation of phosphoprotein phosphatase activity|negative regulation of protein dephosphorylation|positive regulation of apoptosis|positive regulation of phosphoprotein phosphatase activity|positive regulation of protein dephosphorylation calcium channel complex|cytoplasm|nucleus|protein phosphatase type 2A complex|soluble fraction ATP binding|peptidyl-prolyl cis-trans isomerase activity|protein heterodimerization activity|protein homodimerization activity|protein phosphatase 2A binding|protein phosphatase type 2A regulator activity|protein tyrosine phosphatase activator activity|receptor binding breast(3)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 12 Medulloblastoma(224;0.235) UCEC - Uterine corpus endometrioid carcinoma (4;0.0178) GAGACTCCTCCAGTGGACCAG 0.547000 47 13 0 0 1 0 0 SBDS 51119 broad.mit.edu 37 7 66458322 66458322 + Missense_Mutation SNP A T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr7:66458322A>T uc003tvm.1 - 2 525 c.341T>A c.(340-342)aTt>aAt p.I114N NM_016038 NP_057122 Q9Y3A5 SBDS_HUMAN Homo sapiens Shwachman-Bodian-Diamond syndrome (SBDS), mRNA. 114 I -> F (in Ref. 2; AAD34092). bone marrow development|bone mineralization|leukocyte chemotaxis|mature ribosome assembly|mitotic spindle stabilization|positive regulation of translation|rRNA processing|ribosomal large subunit biogenesis cytoplasm|nucleolus|nucleoplasm|spindle pole microtubule binding|rRNA binding|ribosome binding cervix(1)|endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 7 GTCTGCCACAATAGTTGCAAT 0.398000 Gene Conversion """AML, MDS""" Shwachman-Diamond syndrome 145 43 0 0 1 0 0 OR2T11 127077 broad.mit.edu 37 1 248790366 248790366 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr1:248790366C>T uc001ier.1 - 0 64 c.64G>A c.(64-66)Ggg>Agg p.G22R NM_001001964 NP_001001964 Q8NH01 O2T11_HUMAN Homo sapiens olfactory receptor, family 2, subfamily T, member 11 (OR2T11), mRNA. 22 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(5)|lung(20)|skin(2) 28 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) AATACAATCCCGGCAGCCTCA 0.532000 67 18 0 0 1 0 0 GPC4 2239 broad.mit.edu 37 X 132439895 132439895 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chrX:132439895G>A uc004exc.1 - 5 1272 c.1060C>T c.(1060-1062)Cgt>Tgt p.R354C GPC4_uc011mvg.1_Missense_Mutation_p.R284C NM_001448 NP_001439 O75487 GPC4_HUMAN Homo sapiens glypican 4 (GPC4), mRNA. 354 anatomical structure morphogenesis|cell proliferation anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1) 28 Acute lymphoblastic leukemia(192;0.000127) GAGATGGAACGAGAAATTCGT 0.562000 172 82 0 0 1 0 0 ZNF558 148156 broad.mit.edu 37 19 8922209 8922209 + Silent SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr19:8922209G>A uc002mkn.1 - 5 1187 c.957C>T c.(955-957)ccC>ccT p.P319P ZNF558_uc010xkh.1_Silent_p.P248P|ZNF558_uc010dwg.1_Silent_p.P319P NM_144693 NP_653294 Q96NG5 ZN558_HUMAN Homo sapiens zinc finger protein 558 (ZNF558), mRNA. 319 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding p.K318K(1) central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1) 15 TACATTCATAGGGTTTTTCTC 0.443000 75 26 0 0 1 0 0 COLEC12 81035 broad.mit.edu 37 18 334970 334970 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr18:334970C>T uc002kkm.3 - 5 1803 c.1588G>A c.(1588-1590)Ggc>Agc p.G530S NM_130386 NP_569057 Q5KU26 COL12_HUMAN Homo sapiens collectin sub-family member 12 (COLEC12), mRNA. 530 Collagen-like 3. carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization collagen|integral to membrane galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 46 all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426) CCTGGTGGGCCCGGGGGGCCT 0.716000 18 3 0 0 1 0 0 MERTK 10461 broad.mit.edu 37 2 112754998 112754998 + Missense_Mutation SNP T A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr2:112754998T>A uc002thk.1 + 9 1671 c.1549T>A c.(1549-1551)Ttg>Atg p.L517M MERTK_uc002thl.1_Missense_Mutation_p.L341M NM_006343 NP_006334 Q12866 MERTK_HUMAN Homo sapiens c-mer proto-oncogene tyrosine kinase (MERTK), mRNA. 517 cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10) 46 TTTGATTGGGTTGATTTTATA 0.458000 112 28 0 0 1 0 0 CCDC144A 9720 broad.mit.edu 37 17 16593955 16593955 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr17:16593955C>T uc002gqk.1 + 0 317 c.241C>T c.(241-243)Ctt>Ttt p.L81F NM_014695 NP_055510 A2RUR9 C144A_HUMAN Homo sapiens coiled-coil domain containing 144A (CCDC144A), mRNA. 81 CCTGGAAGATCTTGGCGAGCT 0.632000 161 47 0 0 1 0 0 LAMA3 3909 broad.mit.edu 37 18 21484573 21484573 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr18:21484573C>T uc002kuq.3 + 50 6616 c.6530C>T c.(6529-6531)aCc>aTc p.T2177I LAMA3_uc002kur.3_Missense_Mutation_p.T2121I|LAMA3_uc002kus.4_Missense_Mutation_p.T568I|LAMA3_uc002kut.4_Missense_Mutation_p.T512I NM_198129 NP_937762 Q16787 LAMA3_HUMAN Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA. 2177 Domain II and I. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GATGCCGCCACCGCCTACGAG 0.617000 17 4 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82545844 82545844 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr7:82545844C>T uc003uhx.2 - 6 11747 c.11458G>A c.(11458-11460)Gaa>Aaa p.E3820K PCLO_uc003uhv.2_Missense_Mutation_p.E3820K|PCLO_uc010lec.3_Missense_Mutation_p.E785K NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 3751 Gln-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TAGGCTCGTTCTCTCTTTTCT 0.453000 73 34 0 0 1 0 0 INPP5D 3635 broad.mit.edu 37 2 233990529 233990529 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr2:233990529G>A uc010zmo.2 + 3 577 c.424G>A c.(424-426)Gag>Aag p.E142K INPP5D_uc010zmp.2_Missense_Mutation_p.E141K NM_001017915 NP_001017915 Q92835 SHIP1_HUMAN Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA. 142 T cell receptor signaling pathway|apoptosis|blood coagulation|leukocyte migration cytosol SH3 domain binding|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity central_nervous_system(1)|ovary(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185) TGAGGCCAAGGAGGTTCCTTT 0.582000 30 4 0 0 1 0 0 UGT2B11 10720 broad.mit.edu 37 4 70079978 70079978 + Missense_Mutation SNP G A A rs142415589 byFrequency TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr4:70079978G>A uc003heh.3 - 0 472 c.463C>T c.(463-465)Ccc>Tcc p.P155S AK124272_uc003hei.1_Intron NM_001073 NP_001064 O75310 UDB11_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B11 (UGT2B11), mRNA. 155 estrogen metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 42 TCACCACAGGGAAAAACAGCA 0.398000 106 25 0 0 1 0 0 SMARCB1 6598 broad.mit.edu 37 22 24167438 24167438 + Silent SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr22:24167438C>T uc002zyd.3 + 6 1056 c.849C>T c.(847-849)tcC>tcT p.S283S SMARCB1_uc002zya.3_Intron|SMARCB1_uc002zyb.3_Silent_p.S274S|SMARCB1_uc002zyc.3_Silent_p.S265S NM_001007468 NP_001007469 Q12824 SNF5_HUMAN Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 (SMARCB1), transcript variant 2, mRNA. 274 2 X approximate tandem repeats. DNA integration|cell cycle|chromatin remodeling|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent SWI/SNF complex|nBAF complex|npBAF complex|nucleolus|nucleoplasm p53 binding p.?(6)|p.M283fs*77(1)|p.L266_*386del(1) bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194) 458 Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05) GAAACATTTCCCTGGTGGACC 0.572000 """D, N, F, S""" malignant rhabdoid malignant rhabdoid 81 26 0 0 1 0 0 GOT1 2805 broad.mit.edu 37 10 101162412 101162412 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr10:101162412C>T uc001kpr.3 - 7 1235 c.1027G>A c.(1027-1029)Gaa>Aaa p.E343K NM_002079 NP_002070 P17174 AATC_HUMAN Homo sapiens glutamic-oxaloacetic transaminase 1, soluble (aspartate aminotransferase 1) (GOT1), mRNA. 343 aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus cytosol L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2) 16 Ovarian(717;0.028)|Colorectal(252;0.234) Epithelial(162;4.76e-10)|all cancers(201;3.84e-08) L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) TTGAGGGCTTCTAGTCGTGCC 0.517000 54 23 0 0 1 0 0 ARSH 347527 broad.mit.edu 37 X 2951169 2951169 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chrX:2951169G>A uc011mhj.2 + 8 1432 c.1432G>A c.(1432-1434)Gac>Aac p.D478N NM_001011719 NP_001011719 Q5FYA8 ARSH_HUMAN Homo sapiens arylsulfatase family, member H (ARSH), mRNA. 478 integral to membrane arylsulfatase activity|metal ion binding breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1) 34 all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186) AACCTACCACGACCCACCACT 0.473000 54 31 0 0 1 0 0 SRCAP 10847 broad.mit.edu 37 16 30740291 30740292 + Missense_Mutation DNP CC TT TT TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr16:30740291_30740292CC>TT uc002dze.1 + 25 6048_6049 c.5663_5664CC>TT c.(5662-5664)tcc>tTT p.S1888F SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Missense_Mutation_p.S1683F NM_006662 NP_006653 Q6ZRS2 SRCAP_HUMAN Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA. 1888 interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) CCCCAGGACTCCCTGGAGGAAA 0.510000 101 18 0 0 1 0 0 ZP2 7783 broad.mit.edu 37 16 21213314 21213314 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr16:21213314C>T uc010bwn.1 - 11 1517 c.1435G>A c.(1435-1437)Gaa>Aaa p.E479K ZP2_uc002dii.2_Missense_Mutation_p.E440K NM_003460 NP_003451 Q05996 ZP2_HUMAN Homo sapiens zona pellucida glycoprotein 2 (sperm receptor) (ZP2), mRNA. 440 ZP. binding of sperm to zona pellucida|intracellular protein transport Golgi apparatus|endoplasmic reticulum|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule acrosin binding|coreceptor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1) 41 GBM - Glioblastoma multiforme(48;0.0573) GCATGTATTTCGTTTTCATAG 0.393000 125 35 0 0 1 0 0 GBP7 388646 broad.mit.edu 37 1 89607244 89607244 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr1:89607244C>T uc001dna.2 - 8 1592 c.1453G>A c.(1453-1455)Gag>Aag p.E485K GBP2_uc001dmy.1_Intron NM_207398 NP_997281 Q8N8V2 GBP7_HUMAN Homo sapiens guanylate binding protein 7 (GBP7), mRNA. 485 integral to membrane GTP binding|GTPase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Lung NSC(277;0.0908) all cancers(265;0.00835)|Epithelial(280;0.0322) ATGGCCTTCTCTCCAGCAGTG 0.507000 57 49 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 21065751 21065751 + Silent SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr16:21065751G>A uc010vbe.2 - 27 4029 c.4029C>T c.(4027-4029)atC>atT p.I1343I NM_017539 NP_060009 Q8TD57 DYH3_HUMAN Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA. 1343 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) CGTGGACATCGATGACCGTGA 0.532000 33 14 0 0 1 0 0 GABRG2 2566 broad.mit.edu 37 5 161569295 161569295 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr5:161569295G>A uc010jjc.3 + 7 1373 c.1015G>A c.(1015-1017)Gat>Aat p.D339N GABRG2_uc003lyy.4_Missense_Mutation_p.D299N|GABRG2_uc003lyz.4_Missense_Mutation_p.D299N|GABRG2_uc011dej.2_Missense_Mutation_p.D204N NM_198903 NP_944493 P18507 GBRG2_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 2 (GABRG2), transcript variant 3, mRNA. 299 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|protein binding NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 62 Renal(175;0.000319) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136) GATCAATAAGGATGCTGTTCC 0.403000 97 39 0 0 1 0 0 ENTPD1 953 broad.mit.edu 37 10 97605259 97605259 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr10:97605259G>A uc010qoj.2 + 5 818 c.755G>A c.(754-756)cGc>cAc p.R252H ENTPD1_uc001kle.1_Missense_Mutation_p.R247H|ENTPD1_uc001kli.4_Missense_Mutation_p.R247H|LOC728558_uc001klg.2_Intron|ENTPD1_uc010qok.2_Missense_Mutation_p.R132H|ENTPD1_uc010qol.2_Missense_Mutation_p.R132H|ENTPD1_uc001klh.4_Missense_Mutation_p.R240H|ENTPD1_uc010qom.2_Missense_Mutation_p.R240H|ENTPD1_uc010qon.2_Missense_Mutation_p.R102H|ENTPD1_uc009xva.3_Missense_Mutation_p.R102H NM_001164178 NP_001157655 P49961 ENTP1_HUMAN Homo sapiens ectonucleoside triphosphate diphosphohydrolase 1 (ENTPD1), transcript variant 3, mRNA. 240 cell adhesion integral to plasma membrane ATP binding cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1) 16 Colorectal(252;0.0821) Epithelial(162;1.31e-07)|all cancers(201;5.33e-06) CTGCAATTTCGCCTCTATGGC 0.488000 115 27 0 0 1 0 0 C15orf55 256646 broad.mit.edu 37 15 34649228 34649228 + Missense_Mutation SNP A G G TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr15:34649228A>G uc010ucc.2 + 7 3401 c.3019A>G c.(3019-3021)Acc>Gcc p.T1007A C15orf55_uc010ucd.2_Missense_Mutation_p.T997A|C15orf55_uc001zif.3_Missense_Mutation_p.T979A NM_175741 NP_786883 Q86Y26 NUT_HUMAN Homo sapiens chromosome 15 open reading frame 55 (C15orf55), mRNA. 979 cytoplasm|nucleus BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3) large_intestine(2)|ovary(3)|skin(2) 7 all_lung(180;2.78e-08) all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249) TAGAAGGGGAACCAGGAATGC 0.478000 T """BRD3, BRD4""" lethal midline carcinoma 31 15 0 0 1 0 0 C12orf26 84190 broad.mit.edu 37 12 82796832 82796832 + Missense_Mutation SNP A G G TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr12:82796832A>G uc001szq.3 + 4 1271 c.1202A>G c.(1201-1203)aAc>aGc p.N401S NM_032230 NP_115606 Q8N6Q8 CL026_HUMAN Homo sapiens chromosome 12 open reading frame 26 (C12orf26), mRNA. 401 breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 19 TTTACCTCCAACTCTGAAATC 0.383000 45 12 0 0 1 0 0 GLRB 2743 broad.mit.edu 37 4 158065068 158065068 + Silent SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr4:158065068C>T uc003ipj.2 + 7 1063 c.861C>T c.(859-861)tcC>tcT p.S287S GLRB_uc021xtp.1_Silent_p.S287S|GLRB_uc021xtq.1_Silent_p.S287S NM_000824 NP_001159532 P48167 GLRB_HUMAN Homo sapiens glycine receptor, beta (GLRB), transcript variant 1, mRNA. 287 nervous system development|neuropeptide signaling pathway|startle response cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|protein binding|receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1) 27 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707) Glycine(DB00145) CCTGGCTTTCCTTCTGGATCA 0.507000 51 26 0 0 1 0 0 EHHADH 1962 broad.mit.edu 37 3 184910033 184910033 + Missense_Mutation SNP G A A rs140662313 TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr3:184910033G>A uc003fpf.3 - 6 2229 c.2153C>T c.(2152-2154)tCc>tTc p.S718F EHHADH_uc011brs.2_Missense_Mutation_p.S622F NM_001966 NP_001957 Q08426 ECHP_HUMAN Homo sapiens enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase (EHHADH), transcript variant 1, mRNA. 718 peroxisome 3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3) 24 all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21) NADH(DB00157) ACTGCTAGGGGAGCCTGCCAA 0.433000 72 29 0 0 1 0 0 GRIN2B 2904 broad.mit.edu 37 12 13906821 13906821 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr12:13906821C>T uc001rbt.2 - 2 619 c.440G>A c.(439-441)gGc>gAc p.G147D NM_000834 NP_000825 Q13224 NMDE2_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA. 147 response to ethanol N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) AATTGATGGGCCAAACTGGAA 0.393000 56 16 0 0 1 0 0 IRAK2 3656 broad.mit.edu 37 3 10280489 10280489 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr3:10280489C>T uc003bve.1 + 11 1607 c.1531C>T c.(1531-1533)Cct>Tct p.P511S NM_001570 NP_001561 O43187 IRAK2_HUMAN Homo sapiens interleukin-1 receptor-associated kinase 2 (IRAK2), mRNA. 511 I-kappaB kinase/NF-kappaB cascade|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cell surface|cytosol|endosome membrane|plasma membrane ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1) 25 GACGTTGCTCCCTTGGAGTGG 0.562000 115 33 0 0 1 0 0 C20orf26 26074 broad.mit.edu 37 20 20150033 20150033 + Silent SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr20:20150033G>A uc002wru.3 + 12 1428 c.1314G>A c.(1312-1314)gtG>gtA p.V438V C20orf26_uc010zse.2_Silent_p.V418V|C20orf26_uc010zsf.1_Silent_p.V438V NM_015585 NP_056400 Q8NHU2 CT026_HUMAN Homo sapiens chromosome 20 open reading frame 26 (C20orf26), transcript variant 1, mRNA. 438 p.V438M(1) NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 77 READ - Rectum adenocarcinoma(2;0.171) AGAACTTCGTGAAAATGGTCC 0.488000 73 26 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100683600 100683600 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr7:100683600C>T uc003uxp.1 + 2 8956 c.8903C>T c.(8902-8904)tCt>tTt p.S2968F MUC17_uc010lho.1_Non-coding_Transcript NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN Homo sapiens mucin 17, cell surface associated (MUC17), mRNA. 2968 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) GCTAGTTCTTCTCCTACAACT 0.527000 407 128 0 0 1 0 0 IPO5 3843 broad.mit.edu 37 13 98655019 98655019 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr13:98655019C>T uc001vne.3 + 14 1549 c.1369C>T c.(1369-1371)Cat>Tat p.H457Y IPO5_uc001vnf.1_Missense_Mutation_p.H439Y|IPO5_uc010tik.1_Missense_Mutation_p.H314Y|IPO5_uc010til.1_Missense_Mutation_p.H379Y|IPO5_uc001vng.1_Missense_Mutation_p.H60Y NM_002271 NP_002262 O00410 IPO5_HUMAN Homo sapiens importin 5 (IPO5), mRNA. 439 NLS-bearing substrate import into nucleus|interspecies interaction between organisms|ribosomal protein import into nucleus cytoplasm|nuclear pore|nucleolus GTPase inhibitor activity|Ran GTPase binding|protein transporter activity breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 27 AAAGAAATTTCATGAGAAGGT 0.418000 66 23 0 0 1 0 0 NUP93 9688 broad.mit.edu 37 16 56875705 56875705 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr16:56875705C>T uc002eka.3 + 20 2430 c.2309C>T c.(2308-2310)tCg>tTg p.S770L NUP93_uc002ekb.3_Missense_Mutation_p.S647L|NUP93_uc010vhi.2_Missense_Mutation_p.S647L NM_014669 NP_001229725 Q8N1F7 NUP93_HUMAN Homo sapiens nucleoporin 93kDa (NUP93), transcript variant 1, mRNA. 770 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 AGTCCATCCTCGTCATCCAGG 0.512000 107 24 0 0 1 0 0 CECR1 51816 broad.mit.edu 37 22 17690307 17690307 + Silent SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr22:17690307G>A uc002zmk.1 - 0 473 c.261C>T c.(259-261)ttC>ttT p.F87F CECR1_uc010gqu.1_Silent_p.F87F|CECR1_uc011agi.1_Silent_p.F45F|CECR1_uc011agj.1_Silent_p.F45F NM_017424 NP_059120 Q9NZK5 CECR1_HUMAN Homo sapiens cat eye syndrome chromosome region, candidate 1 (CECR1), transcript variant 1, mRNA. 87 Dimerization. adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process Golgi apparatus|extracellular space adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1) 25 all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106) GCTTGGCCTGGAAAAAGTGCA 0.502000 46 9 0 0 1 0 0 LPHN3 23284 broad.mit.edu 37 4 62598778 62598778 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr4:62598778G>A uc010ihh.3 + 4 874 c.701G>A c.(700-702)cGg>cAg p.R234Q LPHN3_uc003hcq.4_Missense_Mutation_p.R234Q|LPHN3_uc010ihg.1_Missense_Mutation_p.R302Q|LPHN3_uc003hcs.1_Missense_Mutation_p.R63Q NM_015236 NP_056051 Q9HAR2 LPHN3_HUMAN Homo sapiens latrophilin 3 (LPHN3), mRNA. 234 Olfactomedin-like. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding p.R234W(1) breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 TTTGATTTGCGGACTAGGATA 0.463000 33 7 0 0 1 0 0 MYH4 4622 broad.mit.edu 37 17 10348126 10348126 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr17:10348126C>T uc002gmn.3 - 37 5668 c.5557G>A c.(5557-5559)Gaa>Aaa p.E1853K AK097500_uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA. 1853 muscle filament sliding muscle myosin complex|myosin filament|sarcomere ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 TAAGTGAGTTCCTTCACTCTT 0.428000 112 32 0 0 1 0 0 ATP12A 479 broad.mit.edu 37 13 25275033 25275033 + Silent SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr13:25275033C>T uc010aaa.3 + 12 2205 c.1872C>T c.(1870-1872)gtC>gtT p.V624V ATP12A_uc001upp.3_Silent_p.V618V NM_001185085 NP_001172014 P54707 AT12A_HUMAN Homo sapiens ATPase, H+/K+ transporting, nongastric, alpha polypeptide (ATP12A), transcript variant 1, mRNA. 618 ATP biosynthetic process hydrogen:potassium-exchanging ATPase complex ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding p.A624T(1) breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5) 74 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228) Esomeprazole(DB00736)|Pantoprazole(DB00213) CAGATGCAGTCACCAAATGCC 0.463000 58 14 0 0 1 0 0 CCNB3 85417 broad.mit.edu 37 X 50089728 50089728 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chrX:50089728G>A uc004dox.4 + 9 4030 c.3732G>A c.(3730-3732)atG>atA p.M1244I CCNB3_uc004doy.3_Missense_Mutation_p.M1244I|CCNB3_uc004doz.3_Missense_Mutation_p.M140I|CCNB3_uc010njq.3_Missense_Mutation_p.M136I|CCNB3_uc004dpa.3_Missense_Mutation_p.M83I NM_033031 NP_149020 Q8WWL7 CCNB3_HUMAN Homo sapiens cyclin B3 (CCNB3), transcript variant 3, mRNA. 1244 cell division|meiosis|regulation of G2/M transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity nucleus protein kinase binding breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Ovarian(276;0.236) TACTCAGCATGGAAATCAACA 0.458000 78 15 0 0 1 0 0 CAMKK2 10645 broad.mit.edu 37 12 121712076 121712076 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr12:121712076G>A uc001tzv.3 - 1 1083 c.254C>T c.(253-255)aCc>aTc p.T85I CAMKK2_uc001tzt.3_Missense_Mutation_p.T85I|CAMKK2_uc001tzu.3_Missense_Mutation_p.T85I|CAMKK2_uc001tzw.3_Missense_Mutation_p.T85I|CAMKK2_uc001tzx.3_Missense_Mutation_p.T85I|CAMKK2_uc001tzy.3_Missense_Mutation_p.T85I|CAMKK2_uc001uaa.1_Missense_Mutation_p.T85I|CAMKK2_uc001uab.3_Missense_Mutation_p.T85I|CAMKK2_uc001uac.3_Missense_Mutation_p.T85I|CAMKK2_uc001uad.2_Missense_Mutation_p.T85I NM_006549 NP_006540 Q96RR4 KKCC2_HUMAN Homo sapiens calcium/calmodulin-dependent protein kinase kinase 2, beta (CAMKK2), transcript variant 1, mRNA. 85 T -> S (in dbSNP:rs3817190). MAPKKK cascade|calcium-mediated signaling|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity cytoplasm ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) GGACCCGGAGGTGTCAAGGGG 0.692000 23 10 0 0 1 0 0 HAS2 3037 broad.mit.edu 37 8 122626951 122626951 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr8:122626951G>A uc003yph.2 - 3 1595 c.1057C>T c.(1057-1059)Cgt>Tgt p.R353C NM_005328 NP_005319 Q92819 HAS2_HUMAN Homo sapiens hyaluronan synthase 2 (HAS2), mRNA. 353 integral to plasma membrane hyaluronan synthase activity HAS2/PLAG1(10) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1) 38 Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142) STAD - Stomach adenocarcinoma(47;0.00503) TTGCTCCAACGGGTCTGCTGG 0.463000 137 76 0 0 1 0 0 DSCAML1 57453 broad.mit.edu 37 11 117303079 117303079 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr11:117303079C>T uc001prh.1 - 29 5350 c.5348G>A c.(5347-5349)cGg>cAg p.R1783Q NM_020693 NP_065744 Q8TD84 DSCL1_HUMAN Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA. 1723 axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) GGTTCCTGGCCGGATGTCAGA 0.552000 39 8 0 0 1 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140788545 140788545 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr5:140788545C>T uc003lkj.2 + 0 776 c.776C>T c.(775-777)tCc>tTc p.S259F PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lki.1_Missense_Mutation_p.S259F NM_018926 NP_061749 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily B, 6 (PCDHGB6), transcript variant 1, mRNA. 259 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCCCCTGGGTCCCCTGTGTTG 0.468000 41 13 0 0 1 0 0 MSI1 4440 broad.mit.edu 37 12 120791151 120791151 + Silent SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr12:120791151G>A uc001tye.1 - 9 748 c.684C>T c.(682-684)gcC>gcT p.A228A NM_002442 NP_002433 O43347 MSI1H_HUMAN Homo sapiens musashi homolog 1 (Drosophila) (MSI1), mRNA. 228 nervous system development cytoplasm|nucleus nucleotide binding p.Y227Y(1)|p.A228S(1) breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2) 19 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) AACTCCGGCTGGCGTAGGTTG 0.607000 91 23 0 0 1 0 0 ANK2 287 broad.mit.edu 37 4 114286226 114286226 + Silent SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr4:114286226C>T uc003ibe.4 + 40 11020 c.10920C>T c.(10918-10920)atC>atT p.I3640I ANK2_uc003ibd.4_Silent_p.I1546I|ANK2_uc003ibf.4_Silent_p.I1555I|ANK2_uc011cgc.2_Silent_p.I731I|ANK2_uc003ibg.4_Silent_p.I539I|ANK2_uc003ibh.4_Silent_p.I229I NM_001148 NP_001139 Q01484 ANK2_HUMAN Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA. 3607 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) TCACCAAGATCAACCGAATGG 0.408000 130 32 0 0 1 0 0 KIAA0319 9856 broad.mit.edu 37 6 24569086 24569086 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr6:24569086G>A uc011djo.2 - 12 2563 c.2063C>T c.(2062-2064)aCc>aTc p.T688I KIAA0319_uc011djp.2_Missense_Mutation_p.T643I|KIAA0319_uc003neh.1_Missense_Mutation_p.T688I|KIAA0319_uc011djq.1_Missense_Mutation_p.T679I|KIAA0319_uc011djr.1_Missense_Mutation_p.T688I|KIAA0319_uc010jpt.1_Missense_Mutation_p.T99I NM_001168375 NP_001161848 Q5VV43 K0319_HUMAN Homo sapiens KIAA0319 (KIAA0319), transcript variant 2, mRNA. 688 PKD 4. negative regulation of dendrite development|neuron migration early endosome membrane|integral to membrane|plasma membrane protein binding breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 53 GAAGTGGTAGGTCCCCACCTG 0.512000 68 22 0 0 1 0 0 BBS4 585 broad.mit.edu 37 15 73023728 73023728 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr15:73023728C>T uc002avd.3 + 10 1156 c.818C>T c.(817-819)gCt>gTt p.A273V BBS4_uc010ukv.2_Missense_Mutation_p.A253V|BBS4_uc002avb.3_Missense_Mutation_p.A265V|BBS4_uc002avc.3_Missense_Mutation_p.A93V|BBS4_uc010bja.3_Missense_Mutation_p.A21V NM_001252678 NP_001239607 Q96RK4 BBS4_HUMAN Homo sapiens Bardet-Biedl syndrome 4 (BBS4), transcript variant 2, mRNA. 265 Interaction with PCM1. adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1) 19 GTGGCTTGTGCTGTTCCAGAA 0.478000 Bardet-Biedl syndrome 47 13 0 0 1 0 0 PPP6R2 9701 broad.mit.edu 37 22 50869716 50869716 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr22:50869716G>A uc003blb.2 + 11 1662 c.1240G>A c.(1240-1242)Gag>Aag p.E414K PPP6R2_uc003blc.3_Missense_Mutation_p.E414K|PPP6R2_uc003bky.2_Missense_Mutation_p.E414K|PPP6R2_uc003bla.2_Missense_Mutation_p.E415K|PPP6R2_uc003bkz.2_Missense_Mutation_p.E414K|PPP6R2_uc003bld.2_5'UTR NM_001242898 NP_001229827 O75170 PP6R2_HUMAN Homo sapiens protein phosphatase 6, regulatory subunit 2 (PPP6R2), transcript variant 1, mRNA. 414 cytoplasm|intracellular membrane-bounded organelle protein binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1) 22 CAGCGGATCCGAGAGCAGGGT 0.597000 69 21 0 0 1 0 0 ZNF300P1 134466 broad.mit.edu 37 5 150321863 150321863 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr5:150321863G>A uc003lsz.1 - 2 304 c.155C>T c.(154-156)tCc>tTc p.S52F ZNF300P1_uc003ltb.3_Non-coding_Transcript|ZNF300P1_uc003lta.2_Non-coding_Transcript Homo sapiens zinc finger protein 300 pseudogene 1 (ZNF300P1), non-coding RNA. ATCTGGTTTGGAAACTGGATA 0.408000 19 4 0 0 1 0 0 GABRA4 2557 broad.mit.edu 37 4 46973157 46973157 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr4:46973157G>A uc003gxg.3 - 6 1800 c.817C>T c.(817-819)Ctt>Ttt p.L273F GABRA4_uc021xnz.1_Missense_Mutation_p.L254F|GABRA4_uc021xoa.1_Intron NM_000809 NP_000800 P48169 GBRA4_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 4 (GABRA4), transcript variant 1, mRNA. 273 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) ACTTGAGAAAGAATCACTGTC 0.363000 44 13 0 0 1 0 0 ZNF646 9726 broad.mit.edu 37 16 31091182 31091182 + Silent SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr16:31091182G>A uc002eap.3 + 1 3826 c.3537G>A c.(3535-3537)ggG>ggA p.G1179G ZNF646_uc021tgu.1_Silent_p.G1179G NM_014699 NP_055514 O15015 ZN646_HUMAN Homo sapiens zinc finger protein 646 (ZNF646), mRNA. 1179 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3) 49 CTGTGAAGGGGGAGGAGATAG 0.592000 20 3 0 0 1 0 0 KANSL2 54934 broad.mit.edu 37 12 49061521 49061521 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr12:49061521G>A uc001rrz.2 - 5 1521 c.1477C>T c.(1477-1479)Cgt>Tgt p.R493C KANSL2_uc001rrw.2_Missense_Mutation_p.R115C|KANSL2_uc001rrx.2_Missense_Mutation_p.R310C|KANSL2_uc001rry.2_Non-coding_Transcript|SNORA2B_uc001rsc.1_5'Flank NM_017822 NP_060292 Q9H9L4 CL041_HUMAN Homo sapiens KAT8 regulatory NSL complex subunit 2 (KANSL2), mRNA. 310 TTGGAACAACGAACATCATCC 0.443000 118 23 0 0 1 0 0 SV2B 9899 broad.mit.edu 37 15 91769606 91769606 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr15:91769606G>A uc002bqv.3 + 2 1004 c.113G>A c.(112-114)gGc>gAc p.G38D SV2B_uc002bqt.3_Missense_Mutation_p.G38D|SV2B_uc002bqu.4_Non-coding_Transcript|SV2B_uc010uqv.2_Intron NM_014848 NP_055663 Q7L1I2 SV2B_HUMAN Homo sapiens synaptic vesicle glycoprotein 2B (SV2B), transcript variant 1, mRNA. 38 neurotransmitter transport acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 42 Lung NSC(78;0.0987)|all_lung(78;0.172) BRCA - Breast invasive adenocarcinoma(143;0.0895) GTCACCGAAGGCCATGATGAG 0.532000 58 14 0 0 1 0 0 OLR1 4973 broad.mit.edu 37 12 10312595 10312595 + Nonsense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr12:10312595G>A uc001qxo.1 - 5 820 c.706C>T c.(706-708)Cag>Tag p.Q236* OLR1_uc010sgz.1_3'UTR|OLR1_uc021qvb.1_3'UTR|OLR1_uc010sha.1_3'UTR NM_002543 NP_002534 P78380 OLR1_HUMAN Homo sapiens oxidized low density lipoprotein (lectin-like) receptor 1 (OLR1), transcript variant 1, mRNA. 236 C-type lectin. blood circulation|blood coagulation|inflammatory response|leukocyte migration|proteolysis extracellular region|integral to plasma membrane|membrane fraction sugar binding breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1) 10 GGGTATGTCTGGGAGACAGCG 0.418000 120 30 0 0 1 0 0 KIAA0564 23078 broad.mit.edu 37 13 42277461 42277461 + Missense_Mutation SNP T C C TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr13:42277461T>C uc001uyj.3 - 26 3273 c.3203A>G c.(3202-3204)gAa>gGa p.E1068G NM_015058 NP_055873 A3KMH1 K0564_HUMAN Homo sapiens KIAA0564 (KIAA0564), transcript variant 1, mRNA. 1068 extracellular region ATP binding|ATPase activity p.E1068K(1) endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(19)|lung(15)|ovary(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 75 Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969) ATGATGAGTTTCCACTGGACA 0.373000 54 10 0 0 1 0 0 WISP1 8840 broad.mit.edu 37 8 134232920 134232920 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr8:134232920G>A uc003yub.3 + 2 552 c.446G>A c.(445-447)gGc>gAc p.G149D WISP1_uc003yuc.3_Intron|WISP1_uc010meb.3_Intron|WISP1_uc010mec.3_Intron|WISP1_uc010med.3_Intron|WISP1_uc003yud.3_Intron NM_003882 NP_003873 O95388 WISP1_HUMAN Homo sapiens WNT1 inducible signaling pathway protein 1 (WISP1), transcript variant 1, mRNA. 149 VWFC. Wnt receptor signaling pathway|cell adhesion|cell-cell signaling|regulation of cell growth extracellular region|soluble fraction insulin-like growth factor binding p.D148E(1) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 21 all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0107) TGCATCGACGGCGCGGTGGGC 0.672000 95 14 0 0 1 0 0 CHIA 27159 broad.mit.edu 37 1 111857955 111857955 + Silent SNP C T T rs41282498 TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr1:111857955C>T uc001eas.3 + 5 535 c.378C>T c.(376-378)ttC>ttT p.F126F CHIA_uc001ear.3_Silent_p.F18F|CHIA_uc001eaq.3_Silent_p.F18F|CHIA_uc009wgc.3_Silent_p.F18F|CHIA_uc001eat.3_Intron|CHIA_uc001eav.3_5'UTR|CHIA_uc001eau.3_Intron|CHIA_uc009wgd.3_Intron NM_201653 NP_068569 Q9BZP6 CHIA_HUMAN Homo sapiens chitinase, acidic (CHIA), transcript variant 4, mRNA. 126 apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus cytoplasm|extracellular space cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1) 23 all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304) Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154) TCATCAAATTCCTGCGCCAGT 0.547000 80 88 0 0 1 0 0 CDH22 64405 broad.mit.edu 37 20 44845478 44845478 + Silent SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr20:44845478G>A uc002xrm.2 - 3 1224 c.825C>T c.(823-825)ccC>ccT p.P275P CDH22_uc010ghk.1_Silent_p.P275P|CDH22_uc002xrn.2_Silent_p.P26P NM_021248 NP_067071 Q9UJ99 CAD22_HUMAN Homo sapiens cadherin 22, type 2 (CDH22), mRNA. 275 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3) 44 Myeloproliferative disorder(115;0.0122) GCGGGAAACGGGGCGGGTTGT 0.612000 93 19 0 0 1 0 0 MAPK6 5597 broad.mit.edu 37 15 52356225 52356226 + Nonsense_Mutation DNP CC TT TT TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr15:52356225_52356226CC>TT uc002abp.3 + 5 1988_1989 c.1194_1195CC>TT c.(1192-1197)ccccga>ccTTga p.R399* NM_002748 NP_002739 Q16659 MK06_HUMAN Homo sapiens mitogen-activated protein kinase 6 (MAPK6), mRNA. 399 cell cycle ATP binding|MAP kinase activity p.R399Q(1) breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2) 20 all cancers(107;0.0028) AAGTTGATCCCCGAAAATATTT 0.406000 76 29 0 0 1 0 0 SLC8A1 6546 broad.mit.edu 37 2 40656791 40656791 + Nonsense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr2:40656791C>T uc002rrx.3 - 0 654 c.630G>A c.(628-630)tgG>tgA p.W210* SLC8A1_uc002rry.3_Nonsense_Mutation_p.W210*|SLC8A1_uc002rsb.2_Nonsense_Mutation_p.W210*|SLC8A1_uc002rrz.3_Nonsense_Mutation_p.W210*|SLC8A1_uc002rsa.3_Nonsense_Mutation_p.W210*|SLC8A1_uc002rsd.4_Nonsense_Mutation_p.W210*|SLC8A1_uc010fan.1_Nonsense_Mutation_p.W210*|SLC8A1_uc002rsc.1_Nonsense_Mutation_p.W210* NM_021097 NP_066920 P32418 NAC1_HUMAN Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA. 210 cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 100 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) CAAAGATGCTCCAGGCTGCTG 0.433000 45 11 0 0 1 0 0 SLC6A7 6534 broad.mit.edu 37 5 149576695 149576695 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr5:149576695C>T uc003lrr.3 + 3 811 c.440C>T c.(439-441)tCc>tTc p.S147F NM_014228 NP_055043 Q99884 SC6A7_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, L-proline), member 7 (SLC6A7), mRNA. 147 integral to plasma membrane|membrane fraction neurotransmitter:sodium symporter activity|proline:sodium symporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1) 16 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) L-Proline(DB00172) CTCTTCGCCTCCCTCACCAGC 0.622000 55 13 0 0 1 0 0 SFRP2 6423 broad.mit.edu 37 4 154702753 154702753 + Silent SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr4:154702753G>A uc003inv.1 - 2 979 c.738C>T c.(736-738)acC>acT p.T246T NM_003013 NP_003004 Q96HF1 SFRP2_HUMAN Homo sapiens secreted frizzled-related protein 2 (SFRP2), mRNA. 246 NTR. brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development cytoplasm|extracellular matrix|extracellular space|plasma membrane PDZ domain binding|Wnt receptor activity|Wnt-protein binding|fibronectin binding|integrin binding|receptor agonist activity breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 16 all_hematologic(180;0.093) Renal(120;0.117) TCTCCTCACAGGTGCACTGCA 0.557000 74 19 0 0 1 0 0 KIF27 55582 broad.mit.edu 37 9 86518517 86518517 + Silent SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr9:86518517G>A uc004ana.3 - 3 1060 c.916C>T c.(916-918)Ctg>Ttg p.L306L KIF27_uc010mpw.3_Silent_p.L306L|KIF27_uc010mpx.3_Silent_p.L306L NM_017576 NP_060046 Q86VH2 KIF27_HUMAN Homo sapiens kinesin family member 27 (KIF27), mRNA. 306 cilium assembly|microtubule-based movement cilium|cytoplasm|microtubule ATP binding|microtubule motor activity breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 43 CTGCCTCCCAGAGAATCTTTC 0.458000 78 24 0 0 1 0 0 PKD1L1 168507 broad.mit.edu 37 7 47970731 47970731 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr7:47970731G>A uc003tny.2 - 5 741 c.707C>T c.(706-708)cCg>cTg p.P236L NM_138295 NP_612152 Q8TDX9 PK1L1_HUMAN Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA. 236 cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 ATGTGAAATCGGCCACAGGGG 0.597000 41 9 0 0 1 0 0 C17orf51 339263 broad.mit.edu 37 17 21477534 21477534 + RNA SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr17:21477534G>A uc002gyx.1 - 0 c.198C>T A8MQB3 CQ051_HUMAN Homo sapiens chromosome 17 open reading frame 51 (C17orf51), mRNA. endometrium(1) 1 cctgaggatgggatgccgcgc 0.647000 20 4 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37026557 37026557 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chrX:37026557C>T uc004ddl.2 + 0 126 c.74C>T c.(73-75)cCg>cTg p.P25L NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA. 25 p.P25L(3) breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 TGTGACAAACCGCCTTCCAAG 0.647000 24 5 0 0 1 0 0 C9orf152 401546 broad.mit.edu 37 9 112963442 112963442 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr9:112963442C>T uc011lwk.2 - 1 1060 c.506G>A c.(505-507)gGa>gAa p.G169E C9orf152_uc022blq.1_5'Flank NM_001012993 NP_001013011 Q5JTZ5 CI152_HUMAN Homo sapiens chromosome 9 open reading frame 152 (C9orf152), mRNA. 169 NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1) 6 GATTCCGGTTCCTTGCTGAGT 0.493000 162 58 0 0 1 0 0 X97876 0 broad.mit.edu 37 9 66501045 66501045 + RNA SNP T C C TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr9:66501045T>C uc004aed.1 + 2 c.1138T>C Homo sapiens uncharacterized LOC442421 (LOC442421), non-coding RNA. TGTCTGGACTTCAGAGCACCT 0.562000 1 2 0 0 1 0 0 IFRD2 7866 broad.mit.edu 37 3 50329957 50329957 + Silent SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr3:50329957G>A uc003czb.3 - 2 301 c.301C>T c.(301-303)Ctg>Ttg p.L101L IFRD2_uc011bdp.2_5'UTR NM_006764 NP_006755 Q12894 IFRD2_HUMAN Homo sapiens interferon-related developmental regulator 2 (IFRD2), mRNA. 106 binding breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1) 14 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) TGAGCGCGCAGGCGACGGCGG 0.637000 36 10 0 0 1 0 0 CDH6 1004 broad.mit.edu 37 5 31323187 31323187 + Silent SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr5:31323187C>T uc003jhe.2 + 11 2505 c.2145C>T c.(2143-2145)ttC>ttT p.F715F NM_004932 NP_004923 P55285 CADH6_HUMAN Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA. 715 adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 TCAGAGATTTCATTAACCAAA 0.532000 49 14 0 0 1 0 0 GRM6 2916 broad.mit.edu 37 5 178417617 178417617 + Silent SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr5:178417617G>A uc003mjr.3 - 3 1167 c.988C>T c.(988-990)Ctg>Ttg p.L330L GRM6_uc010jla.1_5'Flank|GRM6_uc003mjs.1_5'Flank NM_000843 NP_000834 O15303 GRM6_HUMAN Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA. 330 detection of visible light|visual perception integral to plasma membrane NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 55 all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.245) CTTTTGGGCAGGATGGTGATG 0.642000 20 6 0 0 1 0 0 SLC7A2 6542 broad.mit.edu 37 8 17417986 17417986 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr8:17417986C>T uc011kye.2 + 8 1616 c.1568C>T c.(1567-1569)tCc>tTc p.S523F SLC7A2_uc011kyc.2_Missense_Mutation_p.S483F|SLC7A2_uc011kyd.2_Missense_Mutation_p.S522F NM_001164771 NP_001158243 P52569 CTR2_HUMAN Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 (SLC7A2), transcript variant 3, mRNA. 483 cellular amino acid metabolic process|ion transport cytoplasm|integral to plasma membrane|membrane fraction basic amino acid transmembrane transporter activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1) 25 Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216) L-Lysine(DB00123)|L-Ornithine(DB00129) TTCTGCCCCTCCCTTCTGCCA 0.537000 114 50 0 0 1 0 0 KIF3C 3797 broad.mit.edu 37 2 26152834 26152835 + Missense_Mutation DNP GG AA AA TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr2:26152834_26152835GG>AA uc002rgu.2 - 5 2761_2762 c.2104_2105CC>TT c.(2104-2106)ccc>TTc p.P702F KIF3C_uc010eyj.1_Non-coding_Transcript|KIF3C_uc010ykr.1_Missense_Mutation_p.P700F NM_002254 NP_002245 O14782 KIF3C_HUMAN Homo sapiens kinesin family member 3C (KIF3C), mRNA. 702 Globular (Potential). blood coagulation|microtubule-based movement cytosol|kinesin complex|microtubule ATP binding|microtubule motor activity breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCTGTACCTGGGGTGGGACCCC 0.609000 84 35 0 0 1 0 0 ACSM4 341392 broad.mit.edu 37 12 7463275 7463275 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr12:7463275C>T uc001qsx.1 + 2 553 c.553C>T c.(553-555)Ctt>Ttt p.L185F NM_001080454 NP_001073923 P0C7M7 ACSM4_HUMAN Homo sapiens acyl-CoA synthetase medium-chain family member 4 (ACSM4), mRNA. 185 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding endometrium(6)|kidney(1)|lung(14) 21 GTGTCCTGACCTTAAGACAAA 0.527000 16 5 0 0 1 0 0 CPNE4 131034 broad.mit.edu 37 3 131261452 131261452 + Silent SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr3:131261452C>T uc011blq.2 - 14 1652 c.1542G>A c.(1540-1542)gaG>gaA p.E514E CPNE4_uc003eok.3_Silent_p.E496E|CPNE4_uc003eol.3_Silent_p.E514E|CPNE4_uc003eom.3_Silent_p.E496E|CPNE4_uc003eoj.3_Silent_p.E47E NM_130808 NP_570720 Q96A23 CPNE4_HUMAN Homo sapiens copine IV (CPNE4), mRNA. 496 central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 39 GAAGAACAGGCTCTCCCTTGG 0.507000 82 26 0 0 1 0 0 YIPF7 285525 broad.mit.edu 37 4 44624459 44624460 + Missense_Mutation DNP CC TT TT TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr4:44624459_44624460CC>TT uc021xnx.1 - 5 831_832 c.814_815GG>AA c.(814-816)gga>AAa p.G272K NM_182592 NP_872398 Q8N8F6 YIPF7_HUMAN Homo sapiens Yip1 domain family, member 7 (YIPF7), mRNA. 272 endoplasmic reticulum membrane|integral to membrane breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1) 12 GGCAAAAAGTCCATAAAGTATG 0.401000 39 5 0 0 1 0 0 OGDH 4967 broad.mit.edu 37 7 44685012 44685012 + Silent SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr7:44685012C>T uc003tln.3 + 2 468 c.309C>T c.(307-309)tcC>tcT p.S103S OGDH_uc003tlm.3_Silent_p.S103S|OGDH_uc011kbx.2_Silent_p.S103S|OGDH_uc011kby.2_Intron|OGDH_uc003tlp.3_Silent_p.S103S|OGDH_uc011kbz.2_5'UTR|OGDH_uc003tlo.1_5'UTR NM_002541 NP_002532 Q02218 ODO1_HUMAN Homo sapiens oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) (OGDH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 103 glycolysis|lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|mitochondrial membrane oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 36 NADH(DB00157) GCCGAGGCTCCCTGGCTGCTG 0.592000 104 29 0 0 1 0 0 ZCCHC5 203430 broad.mit.edu 37 X 77912994 77912994 + Silent SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chrX:77912994G>A uc022bzi.1 - 0 924 c.924C>T c.(922-924)ttC>ttT p.F308F ZCCHC5_uc004edc.1_Silent_p.F308F NM_152694 NP_689907 Q8N8U3 ZCHC5_HUMAN Homo sapiens zinc finger, CCHC domain containing 5 (ZCCHC5), mRNA. 308 nucleic acid binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1) 37 GCACAGGTATGAAACTTTCAC 0.478000 16 5 0 0 1 0 0 TNRC18 84629 broad.mit.edu 37 7 5430119 5430119 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr7:5430119C>T uc003soi.4 - 3 833 c.484G>A c.(484-486)Gga>Aga p.G162R TNRC18_uc010ksx.1_Missense_Mutation_p.G88R|TNRC18_uc003sok.1_Missense_Mutation_p.G88R NM_001080495 NP_001073964 O15417 TNC18_HUMAN Homo sapiens trinucleotide repeat containing 18 (TNRC18), mRNA. 162 DNA binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8) 11 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) GTCTTACCTCCTCCTGGCCCC 0.652000 23 6 0 0 1 0 0 SIK1 150094 broad.mit.edu 37 21 44840966 44840966 + Silent SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr21:44840966G>A uc002zdf.2 - 6 799 c.672C>T c.(670-672)ttC>ttT p.F224F NM_173354 NP_775490 P57059 SIK1_HUMAN Homo sapiens salt-inducible kinase 1 (SIK1), mRNA. 224 Protein kinase. anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1) 21 TAGGCCCATCGAAGGGGAGAG 0.652000 26 5 0 0 1 0 0 OR51V1 283111 broad.mit.edu 37 11 5221451 5221451 + Silent SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr11:5221451C>T uc010qyz.2 - 0 480 c.480G>A c.(478-480)agG>agA p.R160R NM_001004760 NP_001004760 Q9H2C8 O51V1_HUMAN Homo sapiens olfactory receptor, family 51, subfamily V, member 1 (OR51V1), mRNA. 160 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGAAAAAACTCCTACCTATTA 0.393000 88 22 0 0 1 0 0 C6orf70 55780 broad.mit.edu 37 6 170156844 170156844 + Silent SNP C A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr6:170156844C>A uc003qxg.1 + 4 480 c.447C>A c.(445-447)ccC>ccA p.P149P C6orf70_uc011ehb.1_Silent_p.P23P|C6orf70_uc003qxh.1_Silent_p.P149P|C6orf70_uc010kky.1_Silent_p.P23P NM_018341 NP_060811 Q5T6L9 CF070_HUMAN Homo sapiens chromosome 6 open reading frame 70 (C6orf70), mRNA. 149 integral to membrane breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(1) 20 Breast(66;5.08e-05)|Ovarian(120;0.208) OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191) AGGAATGCCCCTTTCTTTTAA 0.348000 82 27 2.61193e-14 2.66295e-14 1 1 0 GABBR1 2550 broad.mit.edu 37 6 29574966 29574966 + Missense_Mutation SNP A T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr6:29574966A>T uc003nmt.4 - 16 2358 c.2022T>A c.(2020-2022)ttT>ttA p.F674L GABBR1_uc003nmp.4_Missense_Mutation_p.F557L|GABBR1_uc003nms.4_Missense_Mutation_p.F557L|GABBR1_uc003nmu.4_Missense_Mutation_p.F612L|GABBR1_uc011dlr.2_Missense_Mutation_p.F497L NM_001470 NP_001461 Q9UBS5 GABR1_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) B receptor, 1 (GABBR1), transcript variant 1, mRNA. 674 gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Baclofen(DB00181)|Progabide(DB00837) AGCCCAGACTAAAGCCCAGGC 0.562000 68 19 0 0 1 0 0 BACH2 60468 broad.mit.edu 37 6 90648060 90648060 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr6:90648060G>A uc011eab.2 - 7 2720 c.1846C>T c.(1846-1848)Cct>Tct p.P616S BACH2_uc003pnw.3_Missense_Mutation_p.P616S NM_021813 NP_068585 Q9BYV9 BACH2_HUMAN Homo sapiens BTB and CNC homology 1, basic leucine zipper transcription factor 2 (BACH2), transcript variant 1, mRNA. 616 nucleus protein dimerization activity|sequence-specific DNA binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 45 all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063) BRCA - Breast invasive adenocarcinoma(108;0.0799) ACAGGAAAAGGAAGTTTTACC 0.353000 53 5 0 0 1 0 0 CLEC3A 10143 broad.mit.edu 37 16 78056532 78056532 + Silent SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr16:78056532G>A uc002ffh.4 + 0 90 c.9G>A c.(7-9)aaG>aaA p.K3K NM_005752 NP_005743 O75596 CLC3A_HUMAN Homo sapiens C-type lectin domain family 3, member A (CLEC3A), transcript variant 1, mRNA. 3 skeletal system development extracellular region sugar binding NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2) 18 CCATGGCAAAGAATGGACTTG 0.532000 27 8 0 0 1 0 0 abParts 0 broad.mit.edu 37 14 106471667 106471667 + RNA SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr14:106471667C>T uc021ser.1 - 2491 c.43408G>A Parts of antibodies, mostly variable regions. AGAGGATCCTCCAGGTCCAGT 0.557000 35 6 0 0 1 0 0 ANK1 286 broad.mit.edu 37 8 41566359 41566359 + Silent SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr8:41566359C>T uc003xok.3 - 16 2019 c.1935G>A c.(1933-1935)gaG>gaA p.E645E NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_5'Flank|ANK1_uc003xoi.3_Silent_p.E645E|ANK1_uc003xoj.3_Silent_p.E645E|ANK1_uc003xol.3_Silent_p.E645E|ANK1_uc003xom.3_Silent_p.E678E NM_020476 NP_065209 P16157 ANK1_HUMAN Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA. 645 89 kDa domain. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) CTGCGTGGCCCTCCTGGGCGG 0.622000 161 30 0 0 1 0 0 NRK 203447 broad.mit.edu 37 X 105193629 105193629 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chrX:105193629G>A uc004emd.3 + 26 4716 c.4413G>A c.(4411-4413)atG>atA p.M1471I NRK_uc011msi.2_Missense_Mutation_p.M53I NM_198465 NP_940867 Q7Z2Y5 NRK_HUMAN Homo sapiens Nik related kinase (NRK), mRNA. 1472 CNH. G -> A (in dbSNP:rs34232354). ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2) 76 GAATTGGCATGATGCTCACCT 0.373000 HNSCC(51;0.14) 41 14 0 0 1 0 0 MAPK11 5600 broad.mit.edu 37 22 50705394 50705394 + Silent SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr22:50705394G>A uc003bkr.3 - 6 637 c.579C>T c.(577-579)atC>atT p.I193I MAPK11_uc010hay.1_Non-coding_Transcript|MAPK11_uc011art.1_3'UTR|MAPK11_uc010haz.2_Silent_p.I85I NM_002751 NP_002742 Q15759 MK11_HUMAN Homo sapiens mitogen-activated protein kinase 11 (MAPK11), mRNA. 193 Protein kinase. MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|innate immune response|mRNA metabolic process|muscle cell differentiation|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase activity|protein binding breast(1)|central_nervous_system(1)|lung(4) 6 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) AGTTGAGCATGATCTCAGGTG 0.642000 37 9 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110457569 110457569 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr8:110457569G>A uc003yne.3 + 37 5575 c.5471G>A c.(5470-5472)gGa>gAa p.G1824E NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA. 1824 IPT/TIG 10. immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TTGGCTCTGGGAAACCTGACT 0.473000 HNSCC(38;0.096) 95 17 0 0 1 0 0 CR1 1378 broad.mit.edu 37 1 207741239 207741239 + Silent SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr1:207741239C>T uc001hfy.3 + 16 2813 c.2673C>T c.(2671-2673)ccC>ccT p.P891P CR1_uc009xcl.1_Silent_p.P441P|CR1_uc001hfx.3_Silent_p.P1341P|CR1_uc021pij.1_Silent_p.P891P|CR1_uc009xck.1_Silent_p.P441P NM_000573 NP_000564 P17927 CR1_HUMAN Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA. 891 Sushi 14. complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity p.P896P(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 AAGTCTTTCCCTTTGGAAAAG 0.468000 178 58 0 0 1 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140751397 140751397 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr5:140751397C>T uc003ljw.2 + 0 1436 c.1436C>T c.(1435-1437)cCc>cTc p.P479L PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljy.2_5'Flank|PCDHGC5_uc011dat.2_Missense_Mutation_p.P479L|PCDHGC5_uc011dau.2_5'Flank NM_018924 NP_061747 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily B, 3 (PCDHGB3), transcript variant 1, mRNA. 481 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.S479L(1) breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCTCGGATCCCGACTTGGGA 0.612000 111 24 0 0 1 0 0 PAAF1 80227 broad.mit.edu 37 11 73620448 73620448 + Silent SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr11:73620448C>T uc001ouk.1 + 6 571 c.537C>T c.(535-537)atC>atT p.I179I PAAF1_uc001oul.1_Silent_p.I162I|PAAF1_uc001oum.1_Silent_p.I162I NM_025155 NP_079431 Q9BRP4 PAAF1_HUMAN Homo sapiens proteasomal ATPase-associated factor 1 (PAAF1), mRNA. 179 interspecies interaction between organisms proteasome complex protein binding breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 Breast(11;7.42e-05) TGCTAGGTATCCTGGATACAG 0.512000 65 22 0 0 1 0 0 CSRNP3 80034 broad.mit.edu 37 2 166535800 166535800 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr2:166535800C>T uc002udf.3 + 6 1671 c.1295C>T c.(1294-1296)tCt>tTt p.S432F CSRNP3_uc002udg.3_Missense_Mutation_p.S432F NM_001172173 NP_079245 Q8WYN3 CSRN3_HUMAN Homo sapiens cysteine-serine-rich nuclear protein 3 (CSRNP3), transcript variant 1, mRNA. 432 apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2) 33 TATGCCAACTCTTCAACTCTG 0.423000 118 46 0 0 1 0 0 GPRC5B 51704 broad.mit.edu 37 16 19883616 19883616 + Silent SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr16:19883616G>A uc010vav.2 - 1 861 c.630C>T c.(628-630)acC>acT p.T210T GPRC5B_uc021tef.1_Silent_p.T176T|GPRC5B_uc002dgt.3_Silent_p.T184T NM_016235 NP_057319 Q9NZH0 GPC5B_HUMAN Homo sapiens G protein-coupled receptor, family C, group 5, member B (GPRC5B), mRNA. 184 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 CACGCAGCACGGTGAGCACCA 0.652000 67 10 0 0 1 0 0 MARK4 57787 broad.mit.edu 37 19 45762442 45762442 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr19:45762442C>T uc002pbb.2 + 1 578 c.247C>T c.(247-249)Cgg>Tgg p.R83W MARK4_uc002paz.2_Intron|MARK4_uc002pba.2_Missense_Mutation_p.R83W NM_001199867 NP_001186796 Q96L34 MARK4_HUMAN Homo sapiens MAP/microtubule affinity-regulating kinase 4 (MARK4), transcript variant 1, mRNA. 83 Protein kinase. microtubule bundle formation|nervous system development|positive regulation of programmed cell death centrosome|neuron projection ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 31 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0102) CCTCACTGGTCGGGAGGTGAG 0.617000 26 8 0 0 1 0 0 ZNF343 79175 broad.mit.edu 37 20 2464742 2464742 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr20:2464742G>A uc002wge.1 - 5 1353 c.865C>T c.(865-867)Cgt>Tgt p.R289C ZNF343_uc010gao.1_Missense_Mutation_p.R289C|ZNF343_uc002wgd.1_Missense_Mutation_p.R199C NM_024325 NP_077301 Q6P1L6 ZN343_HUMAN Homo sapiens zinc finger protein 343 (ZNF343), mRNA. 289 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1) 25 GAGTGTATACGATGGTGTCTG 0.478000 83 28 0 0 1 0 0 ABCA12 26154 broad.mit.edu 37 2 215815680 215815680 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr2:215815680G>A uc002vew.3 - 44 6995 c.6775C>T c.(6775-6777)Ctc>Ttc p.L2259F ABCA12_uc002vev.3_Missense_Mutation_p.L1941F|ABCA12_uc010zjn.2_Missense_Mutation_p.L1186F NM_173076 NP_775099 Q86UK0 ABCAC_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA. 2259 ABC transporter 2. cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) GTCTTTGTGAGACAATAAAGT 0.408000 112 39 0 0 1 0 0 KANSL1L 151050 broad.mit.edu 37 2 210940450 210940450 + Silent SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr2:210940450G>A uc002vds.3 - 5 1789 c.1581C>T c.(1579-1581)tcC>tcT p.S527S KANSL1L_uc002vdt.3_Silent_p.S527S|KANSL1L_uc002vdw.3_Silent_p.S527S|KANSL1L_uc002vdv.3_Silent_p.S527S|KANSL1L_uc002vdx.1_Silent_p.S527S NM_152519 NP_689732 A0AUZ9 CB067_HUMAN Homo sapiens chromosome 2 open reading frame 67 (C2orf67), mRNA. 527 AGCTACTGGAGGAAGACAGCT 0.383000 41 7 0 0 1 0 0 NCAN 1463 broad.mit.edu 37 19 19360599 19360599 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr19:19360599G>A uc002nlz.3 + 14 3944 c.3845G>A c.(3844-3846)cGa>cAa p.R1282Q NCAN_uc002nma.3_Missense_Mutation_p.D38N NM_004386 NP_004377 O14594 NCAN_HUMAN Homo sapiens neurocan (NCAN), mRNA. 1282 R -> G (in Ref. 1; AAC80576). axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 Epithelial(12;0.00544) CGGATGCGGCGAcaccaccac 0.592000 36 15 0 0 1 0 0 DYNC2H1 79659 broad.mit.edu 37 11 103070049 103070049 + Silent SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr11:103070049G>A uc001phn.1 + 48 8076 c.7932G>A c.(7930-7932)ctG>ctA p.L2644L DYNC2H1_uc009yxe.1_Intron|DYNC2H1_uc001pho.2_Silent_p.L2644L NM_001080463 NP_001073932 Q8NCM8 DYHC2_HUMAN Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA. 2644 AAA 4 (By similarity). Golgi organization|cell projection organization|microtubule-based movement|multicellular organismal development Golgi apparatus|cilium axoneme|dynein complex|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 33 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) ATAGAGTGCTGAGTTTCCCTG 0.423000 23 7 0 0 1 0 0 POTEE 445582 broad.mit.edu 37 2 131976362 131976362 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr2:131976362G>A uc002tsn.2 + 0 439 c.387G>A c.(385-387)atG>atA p.M129I PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR NM_001083538 NP_001077007 Q6S8J3 POTEE_HUMAN Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA. 129 ATP binding GCGCCTTCATGGAGCCCAGGT 0.602000 107 20 0 0 1 0 0 HOXC5 3222 broad.mit.edu 37 12 54427267 54427267 + Nonsense_Mutation SNP G T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr12:54427267G>T uc001sew.3 + 0 436 c.361G>T c.(361-363)Gag>Tag p.E121* HOXC5_uc001set.3_Intron|HOXC4_uc001seu.3_Intron|MIR615_uc021qyl.1_5'Flank NM_018953 NP_061826 Q00444 HXC5_HUMAN Homo sapiens homeobox C5 (HOXC5), transcript variant 1, mRNA. 121 regulation of transcription from RNA polymerase II promoter cell junction|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(2)|urinary_tract(1) 12 GATCAAAGAGGAGCAGGCGCA 0.637000 10 3 0.115264 0.115411 1 1 0 PAX6 5080 broad.mit.edu 37 11 31816322 31816322 + Missense_Mutation SNP G T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr11:31816322G>T uc009yjr.3 - 7 1007 c.538C>A c.(538-540)Cag>Aag p.Q180K PAX6_uc001mtd.4_Missense_Mutation_p.Q180K|PAX6_uc001mte.4_Missense_Mutation_p.Q180K|PAX6_uc001mtg.4_Missense_Mutation_p.Q194K|PAX6_uc001mtf.4_Missense_Mutation_p.Q180K|PAX6_uc001mth.4_Missense_Mutation_p.Q180K|PAX6_uc021qfl.1_Missense_Mutation_p.Q194K|PAX6_uc021qfm.1_Missense_Mutation_p.Q194K|PAX6_uc021qfn.1_Missense_Mutation_p.Q180K NM_001127612 NP_001121084 P26367 PAX6_HUMAN Homo sapiens paired box 6 (PAX6), transcript variant 3, mRNA. 180 Gln/Gly-rich. blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception cytoplasm|nuclear chromatin R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2) 35 Lung SC(675;0.225) CCTCCTTCCTGTTGCTGGCAG 0.468000 Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation 84 18 7.07596e-05 7.12143e-05 1 1 0 PHF21B 112885 broad.mit.edu 37 22 45309857 45309857 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr22:45309857G>A uc003bfn.3 - 4 827 c.676C>T c.(676-678)Cat>Tat p.H226Y PHF21B_uc011aqk.2_Intron|PHF21B_uc003bfm.3_Intron|PHF21B_uc011aql.2_Intron|PHF21B_uc011aqm.1_Intron NM_138415 NP_612424 Q96EK2 PF21B_HUMAN Homo sapiens PHD finger protein 21B (PHF21B), transcript variant 1, mRNA. 226 zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2) 25 all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731) UCEC - Uterine corpus endometrioid carcinoma (28;0.0203) AAGATGCCATggaggggtgaa 0.642000 51 18 0 0 1 0 0 ANK2 287 broad.mit.edu 37 4 114117542 114117542 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr4:114117542C>T uc003ibe.4 + 2 305 c.205C>T c.(205-207)Cat>Tat p.H69Y ANK2_uc003ibd.4_Missense_Mutation_p.H48Y|ANK2_uc003ibf.4_Missense_Mutation_p.H69Y|ANK2_uc003ibc.2_Missense_Mutation_p.H45Y|ANK2_uc011cgb.1_Missense_Mutation_p.H84Y NM_001148 NP_001139 Q01484 ANK2_HUMAN Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA. 69 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) CAACGCTCTCCATCTGGCTGC 0.483000 30 8 0 0 1 0 0 MAGEB16 139604 broad.mit.edu 37 X 35820590 35820590 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chrX:35820590G>A uc010ngt.1 + 1 556 c.277G>A c.(277-279)Gaa>Aaa p.E93K MAGEB16_uc022bus.1_Missense_Mutation_p.E93K NM_001099921 NP_001093391 A2A368 MAGBG_HUMAN Homo sapiens melanoma antigen family B, 16 (MAGEB16), mRNA. 93 breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 TCAAGAAGAGGAAGATAGTCC 0.493000 11 10 0 0 1 0 0 APLP2 334 broad.mit.edu 37 11 130013326 130013326 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr11:130013326G>A uc010sby.2 + 17 2432 c.2275G>A c.(2275-2277)Gag>Aag p.E759K APLP2_uc001qfp.3_Missense_Mutation_p.E747K|APLP2_uc001qfq.3_Missense_Mutation_p.E691K|APLP2_uc010sbz.2_Missense_Mutation_p.E547K|APLP2_uc001qfr.3_Missense_Mutation_p.E513K|APLP2_uc001qfs.3_Missense_Mutation_p.E518K|APLP2_uc021qsg.1_Missense_Mutation_p.E757K|APLP2_uc001qfv.3_Missense_Mutation_p.E650K|APLP2_uc009zcv.3_Missense_Mutation_p.E107K NM_001642 NP_001633 Q06481 APLP2_HUMAN Homo sapiens amyloid beta (A4) precursor-like protein 2 (APLP2), transcript variant 1, mRNA. 759 G-protein coupled receptor protein signaling pathway integral to membrane|nucleus|plasma membrane DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_hematologic(175;0.0429) Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24) CAAATACCTGGAGCAGATGCA 0.567000 77 26 0 0 1 0 0 OR5D13 390142 broad.mit.edu 37 11 55541282 55541282 + Silent SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr11:55541282C>T uc010ril.2 + 0 369 c.369C>T c.(367-369)gaC>gaT p.D123D NM_001001967 NP_001001967 Q8NGL4 OR5DD_HUMAN Homo sapiens olfactory receptor, family 5, subfamily D, member 13 (OR5D13), mRNA. 123 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.Y122Y(1) breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1) 40 all_epithelial(135;0.196) TGGCTTATGACCGTTTTGTGG 0.428000 174 40 0 0 1 0 0 PARD3B 117583 broad.mit.edu 37 2 205990441 205990441 + Missense_Mutation SNP C A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr2:205990441C>A uc002var.2 + 9 1621 c.1414C>A c.(1414-1416)Cat>Aat p.H472N PARD3B_uc010fub.2_Missense_Mutation_p.H472N|PARD3B_uc002vao.2_Missense_Mutation_p.H472N|PARD3B_uc002vap.2_Missense_Mutation_p.H472N|PARD3B_uc002vaq.2_Missense_Mutation_p.H472N NM_205863 NP_689739 Q8TEW8 PAR3L_HUMAN Homo sapiens par-3 partitioning defective 3 homolog B (C. elegans) (PARD3B), mRNA. 472 cell cycle|cell division endomembrane system|tight junction breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4) 65 all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06) Epithelial(149;0.0739) CCAAGAAGGACATTTTCTGCC 0.498000 101 33 2.42023e-17 2.47394e-17 1 1 0 PRR16 51334 broad.mit.edu 37 5 120022042 120022042 + Nonsense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr5:120022042C>T uc003ksq.3 + 1 716 c.553C>T c.(553-555)Cag>Tag p.Q185* PRR16_uc003ksp.3_Nonsense_Mutation_p.Q162*|PRR16_uc003ksr.3_Nonsense_Mutation_p.Q115* NM_016644 NP_057728 Q569H4 PRR16_HUMAN Homo sapiens proline rich 16 (PRR16), mRNA. 185 Pro-rich. endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 28 all_cancers(142;0.0464)|Prostate(80;0.00446) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169) GGCTCCAGTCCAGCTTCTGAT 0.473000 58 17 0 0 1 0 0 CHD8 57680 broad.mit.edu 37 14 21871732 21871732 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr14:21871732C>T uc001war.2 - 15 3463 c.3398G>A c.(3397-3399)gGc>gAc p.G1133D CHD8_uc001was.2_Missense_Mutation_p.G854D|CHD8_uc001wav.1_Missense_Mutation_p.G296D NM_001170629 NP_001164100 Q9HCK8 CHD8_HUMAN Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA. 1133 ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|beta-catenin binding|methylated histone residue binding|p53 binding NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 85 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) AACCAGTTTGCCGGCTGAACG 0.458000 21 3 0 0 1 0 0 ZNF599 148103 broad.mit.edu 37 19 35251304 35251304 + Missense_Mutation SNP G C C TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr19:35251304G>C uc010edn.1 - 3 790 c.402C>G c.(400-402)aaC>aaG p.N134K ZNF599_uc010edm.2_Missense_Mutation_p.N97K NM_001007248 NP_001007249 Q96NL3 ZN599_HUMAN Homo sapiens zinc finger protein 599 (ZNF599), mRNA. 134 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1) 24 all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.138) CTGGCCTCAAGTTCCCTTCCT 0.443000 144 24 0 0 1 0 0 MC5R 4161 broad.mit.edu 37 18 13826736 13826736 + Silent SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr18:13826736G>A uc010xaf.2 + 0 1194 c.972G>A c.(970-972)agG>agA p.R324R NM_005913 NP_005904 P33032 MC5R_HUMAN Homo sapiens melanocortin 5 receptor (MC5R), mRNA. 324 G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocortin receptor activity|protein binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1) 41 TTCCCAGAAGGGATTAAGCAC 0.522000 70 14 0 0 1 0 0 HFE2 148738 broad.mit.edu 37 1 145415587 145415587 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr1:145415587C>T uc001eni.2 + 2 731 c.406C>T c.(406-408)Cca>Tca p.P136S HFE2_uc001enk.2_Missense_Mutation_p.P23S|HFE2_uc001enj.2_Intron|HFE2_uc001enl.2_Intron|HFE2_uc021oux.1_5'Flank NM_213653 NP_660320 Q6ZVN8 RGMC_HUMAN Homo sapiens hemochromatosis type 2 (juvenile) (HFE2), transcript variant a, mRNA. 136 axon guidance anchored to membrane central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1) 14 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) ccccgcccTTCCAGGCGCGGG 0.682000 18 11 0 0 1 0 0 ZBTB22 9278 broad.mit.edu 37 6 33284653 33284653 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr6:33284653G>A uc003oeb.3 - 1 193 c.41C>T c.(40-42)cCc>cTc p.P14L TAPBP_uc003odx.2_5'Flank|TAPBP_uc010jut.2_5'Flank|TAPBP_uc003odz.3_5'Flank|TAPBP_uc003ody.3_5'Flank|TAPBP_uc011drc.2_5'Flank|ZBTB22_uc010juu.3_Missense_Mutation_p.P14L|ZBTB22_uc021ywm.1_Missense_Mutation_p.P14L NM_005453 NP_005444 O15209 ZBT22_HUMAN Homo sapiens zinc finger and BTB domain containing 22 (ZBTB22), transcript variant 1, mRNA. 14 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3) 21 CAGCGGCAGGGGAAGTGCTGC 0.647000 19 4 0 0 1 0 0 FAM171A1 221061 broad.mit.edu 37 10 15255812 15255812 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr10:15255812C>T uc001iob.3 - 7 1782 c.1775G>A c.(1774-1776)gGg>gAg p.G592E NM_001010924 NP_001010924 Q5VUB5 F1711_HUMAN Homo sapiens family with sequence similarity 171, member A1 (FAM171A1), mRNA. 592 G -> R (in Ref. 4; AAH34232). integral to membrane breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 52 GGAGTGGTCCCCGGGGAGTTT 0.547000 103 36 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113697683 113697683 + Nonsense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr8:113697683G>A uc003ynu.3 - 14 2593 c.2434C>T c.(2434-2436)Cag>Tag p.Q812* CSMD3_uc003yns.3_Nonsense_Mutation_p.Q84*|CSMD3_uc003ynt.3_Nonsense_Mutation_p.Q772*|CSMD3_uc011lhx.2_Nonsense_Mutation_p.Q708* NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA. 812 CUB 4. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TGGTCAGCCTGAAATTCCAAT 0.393000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 102 18 0 0 1 0 0 STARD4 134429 broad.mit.edu 37 5 110835665 110835665 + Silent SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr5:110835665C>T uc003kph.1 - 5 621 c.537G>A c.(535-537)ggG>ggA p.G179G STARD4_uc010jbw.1_Silent_p.G81G|STARD4_uc010jbx.1_Silent_p.G81G|STARD4_uc003kpi.1_Non-coding_Transcript NM_139164 NP_631903 Q96DR4 STAR4_HUMAN Homo sapiens StAR-related lipid transfer (START) domain containing 4 (STARD4), mRNA. 179 START. lipid transport lipid binding p.G179G(2) cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1) 12 all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248) OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138) GAGGAATCATCCCACGCAGAT 0.413000 118 29 0 0 1 0 0 THSD7A 221981 broad.mit.edu 37 7 11500355 11500355 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr7:11500355G>A uc021zzo.1 - 10 2791 c.2539C>T c.(2539-2541)Cct>Tct p.P847S THSD7A_uc021zzn.1_Missense_Mutation_p.P847S NM_015204 NP_056019 Q9UPZ6 THS7A_HUMAN Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA. 847 integral to membrane NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) ACGCTCCAAGGGACTAATTGG 0.547000 HNSCC(18;0.044) 15 4 0 0 1 0 0 C22orf42 150297 broad.mit.edu 37 22 32550255 32550255 + Missense_Mutation SNP C T T rs143164067 TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr22:32550255C>T uc003amd.3 - 1 324 c.283G>A c.(283-285)Ggg>Agg p.G95R NM_001010859 NP_001010859 Q6IC83 CV042_HUMAN Homo sapiens chromosome 22 open reading frame 42 (C22orf42), mRNA. 95 p.G95E(1) NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2) 24 GGCCAAATCCCGTGCCGTCTC 0.368000 106 33 0 0 1 0 0 PKD2L1 9033 broad.mit.edu 37 10 102059467 102059467 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr10:102059467C>T uc001kqx.1 - 2 741 c.358G>A c.(358-360)Gga>Aga p.G120R PKD2L1_uc009xwm.1_Missense_Mutation_p.G73R NM_016112 NP_057196 Q9P0L9 PK2L1_HUMAN Homo sapiens polycystic kidney disease 2-like 1 (PKD2L1), transcript variant 1, mRNA. 120 signal transduction integral to membrane calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding p.G120V(1) NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 43 Colorectal(252;0.117) Epithelial(162;6.15e-10)|all cancers(201;5.14e-08) CTTGTCATTCCATAGGTCACT 0.483000 96 25 0 0 1 0 0 KSR2 283455 broad.mit.edu 37 12 118198896 118198896 + Silent SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr12:118198896G>A uc001two.2 - 3 874 c.819C>T c.(817-819)atC>atT p.I273I NM_173598 NP_775869 Q6VAB6 KSR2_HUMAN Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA. 302 Pro-rich. intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TGAATCCCGGGATCAAGTGTA 0.662000 119 25 0 0 1 0 0 DNAJC2 27000 broad.mit.edu 37 7 102967028 102967028 + Silent SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr7:102967028G>A uc003vbo.3 - 4 785 c.534C>T c.(532-534)ttC>ttT p.F178F PMPCB_uc011kll.1_Intron|DNAJC2_uc003vbn.3_5'UTR|DNAJC2_uc010lix.3_Silent_p.F178F|DNAJC2_uc003vbp.3_5'UTR|DNAJC2_uc003vbq.1_Non-coding_Transcript NM_014377 NP_055192 Q99543 DNJC2_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 2 (DNAJC2), transcript variant 1, mRNA. 178 ZRF1-UBD. 'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nuclear membrane DNA binding|Hsp70 protein binding|chromatin binding|histone binding|ubiquitin binding endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1) 21 ACACTTCGAAGAAATTATCCT 0.378000 64 11 0 0 1 0 0 ERAP1 51752 broad.mit.edu 37 5 96139153 96139153 + Silent SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr5:96139153G>A uc003kmm.3 - 1 824 c.477C>T c.(475-477)ttC>ttT p.F159F ERAP1_uc003kml.3_Silent_p.F159F|ERAP1_uc010jbm.2_Intron|ERAP1_uc003kmn.3_Silent_p.F159F NM_001040458 NP_001185470 Q9NZ08 ERAP1_HUMAN Homo sapiens endoplasmic reticulum aminopeptidase 1 (ERAP1), transcript variant 2, mRNA. 159 angiogenesis|antigen processing and presentation of endogenous peptide antigen via MHC class I|fat cell differentiation|membrane protein ectodomain proteolysis|regulation of blood pressure|regulation of innate immune response|response to bacterium cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|integral to membrane aminopeptidase activity|interleukin-1, Type II receptor binding|interleukin-6 receptor binding|metalloexopeptidase activity|zinc ion binding endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2) 19 all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244) all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071) AAAATCCGTGGAAAGTCTCCG 0.478000 86 22 0 0 1 0 0 ERBB3 2065 broad.mit.edu 37 12 56481944 56481944 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr12:56481944C>T uc001sjh.3 + 6 1148 c.872C>T c.(871-873)cCc>cTc p.P291L ERBB3_uc009zoj.3_Non-coding_Transcript|ERBB3_uc010sqb.2_Intron|ERBB3_uc010sqc.2_Missense_Mutation_p.P232L|ERBB3_uc001sji.3_5'Flank NM_001982 NP_001973 P21860 ERBB3_HUMAN Homo sapiens v-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian) (ERBB3), transcript variant 1, mRNA. 291 Schwann cell differentiation|cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) GCCAGCTGTCCCCGTAAGTGT 0.443000 31 12 0 0 1 0 0 ZBTB45 84878 broad.mit.edu 37 19 59028743 59028743 + Silent SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr19:59028743G>A uc002qtd.3 - 1 590 c.298C>T c.(298-300)Ctg>Ttg p.L100L ZBTB45_uc002qtf.3_Silent_p.L100L NM_032792 NP_116181 Q96K62 ZBT45_HUMAN Homo sapiens zinc finger and BTB domain containing 45 (ZBTB45), mRNA. 100 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|lung(5)|urinary_tract(1) 11 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18) AGCACCTGCAGGGCTTCACCC 0.642000 OREG0025700 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 74 10 0 0 1 0 0 HSPA2 3306 broad.mit.edu 37 14 65009365 65009365 + Missense_Mutation SNP A G G TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr14:65009365A>G uc001xhj.3 + 1 1874 c.1798A>G c.(1798-1800)Aaa>Gaa p.K600E HSPA2_uc001xhk.4_Missense_Mutation_p.K600E NM_021979 NP_068814 P54652 HSP72_HUMAN Homo sapiens heat shock 70kDa protein 2 (HSPA2), mRNA. 600 response to unfolded protein|spermatid development cell surface ATP binding|unfolded protein binding breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 22 all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045) ACACAAGCAGAAAGAGCTCGA 0.557000 59 21 0 0 1 0 0 AV4S1 0 broad.mit.edu 37 14 22671117 22671117 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr14:22671117C>T uc021rpv.1 + 1 172 c.137C>T c.(136-138)cCa>cTa p.P46L TCRA_uc001wbw.2_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc001wdd.2_Intron|TCRA_uc010ajj.1_Intron|TCRA_uc001wde.1_Intron|TCRA_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajl.1_Intron|AV4S1_uc010ajm.2_Non-coding_Transcript Homo sapiens mRNA for T cell receptor alpha variable 26, partial cds, clone: SEB 320. TCCCAGGGTCCAGAGTACGTG 0.478000 39 13 0 0 1 0 0 TECTA 7007 broad.mit.edu 37 11 120989063 120989063 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr11:120989063C>T uc010rzo.2 + 5 839 c.839C>T c.(838-840)aCc>aTc p.T280I NM_005422 NP_005413 O75443 TECTA_HUMAN Homo sapiens tectorin alpha (TECTA), mRNA. 280 VWFC. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) TTGAACTGCACCGTCAAGTGC 0.502000 63 13 0 0 1 0 0 ADAM7 8756 broad.mit.edu 37 8 24365022 24365022 + Silent SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr8:24365022C>T uc003xeb.3 + 20 2351 c.2238C>T c.(2236-2238)atC>atT p.I746I ADAM7_uc003xec.3_Intron NM_003817 NP_003808 Q9H2U9 ADAM7_HUMAN Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA. 746 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding p.I746I(2) NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15) 64 Prostate(55;0.0181) Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182) CAAGAGGAATCGCAGATCCCA 0.388000 106 17 0 0 1 0 0 RPL6 6128 broad.mit.edu 37 12 112846061 112846062 + Missense_Mutation DNP CC TT TT TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr12:112846061_112846062CC>TT uc001ttu.3 - 2 547_548 c.318_319GG>AA c.(316-321)gtggtt>gtAAtt p.V107I RPL6_uc001ttv.3_Missense_Mutation_p.V107I|RPL6_uc009zwd.1_3'UTR NM_001024662 NP_001019833 Q02878 RL6_HUMAN Homo sapiens ribosomal protein L6 (RPL6), transcript variant 1, mRNA. 107 endocrine pancreas development|regulation of transcription, DNA-dependent|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit DNA binding|RNA binding|structural constituent of ribosome cervix(1)|large_intestine(6)|lung(3) 10 CGAAGTTTAACCACCCGGGTAC 0.396000 69 14 0 0 1 0 0 MPZL2 10205 broad.mit.edu 37 11 118130816 118130816 + Silent SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr11:118130816C>T uc001psn.3 - 3 920 c.537G>A c.(535-537)cgG>cgA p.R179R MPZL2_uc001pso.3_Silent_p.R179R NM_005797 NP_658911 O60487 MPZL2_HUMAN Homo sapiens myelin protein zero-like 2 (MPZL2), transcript variant 1, mRNA. 179 anatomical structure morphogenesis|homophilic cell adhesion cytoskeleton|integral to membrane endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|skin(1) 11 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.04e-05) ATCGCTTTTTCCGGTAATGCT 0.478000 250 70 0 0 1 0 0 RAF1 5894 broad.mit.edu 37 3 12650812 12650812 + Missense_Mutation SNP T G G TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr3:12650812T>G uc003bxf.4 - 3 758 c.343A>C c.(343-345)Aat>Cat p.N115H RAF1_uc011aut.2_5'UTR|RAF1_uc011auu.2_Missense_Mutation_p.N33H NM_002880 NP_002871 P04049 RAF1_HUMAN Homo sapiens v-raf-1 murine leukemia viral oncogene homolog 1 (RAF1), mRNA. 115 RBD. Ras protein signal transduction|activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|synaptic transmission cytosol|mitochondrial outer membrane|plasma membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity p.N115S(1) ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6) biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1) 32 Sorafenib(DB00398) GCATCAGTATTCCAATCTAAG 0.338000 T SRGAP3 pilocytic astrocytoma Noonan syndrome 92 32 0 0 1 0 0 SPTBN5 51332 broad.mit.edu 37 15 42172063 42172063 + Splice_Site SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr15:42172063C>T uc001zos.3 - 15 3040 c.2707_splice c.e15-1 p.N903_splice NM_016642 NP_057726 Q9NRC6 SPTN5_HUMAN Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA. 938 actin cytoskeleton organization|actin filament capping|axon guidance cytosol|membrane|spectrin NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 62 all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908) TGAGGAAGTTCTAGGGAAAAG 0.562000 33 14 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135431105 135431105 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chrX:135431105C>T uc004ezu.1 + 5 5531 c.5240C>T c.(5239-5241)cCt>cTt p.P1747L GPR112_uc010nsb.1_Missense_Mutation_p.P1542L|GPR112_uc010nsc.1_Missense_Mutation_p.P1514L NM_153834 NP_722576 Q8IZF6 GP112_HUMAN Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA. 1747 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) ATCACTGTTCCTGAAAATATG 0.428000 103 51 0 0 1 0 0 DCAF8L2 347442 broad.mit.edu 37 X 27766345 27766345 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chrX:27766345G>A uc011mjy.2 + 0 1420 c.1333G>A c.(1333-1335)Gat>Aat p.D445N NM_001136533 NP_001130005 Homo sapiens DDB1 and CUL4 associated factor 8-like 2 (DCAF8L2), mRNA. central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3) 24 CAATGATGACGATATTTACCT 0.423000 44 14 0 0 1 0 0 C5 727 broad.mit.edu 37 9 123797169 123797169 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr9:123797169G>A uc004bkv.3 - 4 526 c.496C>T c.(496-498)Cct>Tct p.P166S C5_uc010mvm.1_Missense_Mutation_p.P166S|C5_uc010mvn.1_Missense_Mutation_p.P166S NM_001735 NP_001726 P01031 CO5_HUMAN Homo sapiens complement component 5 (C5), mRNA. 166 G-protein coupled receptor protein signaling pathway|activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production extracellular space|membrane attack complex chemokine activity|endopeptidase inhibitor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242) Eculizumab(DB01257) GATCCTTCAGGATCCTGTAAA 0.299000 19 9 0 0 1 0 0 POLR2A 5430 broad.mit.edu 37 17 7401454 7401454 + Silent SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr17:7401454C>T uc002ghf.4 + 7 1646 c.1260C>T c.(1258-1260)atC>atT p.I420I POLR2A_uc002ghe.3_Silent_p.I420I NM_000937 NP_000928 P24928 RPB1_HUMAN Homo sapiens polymerase (RNA) II (DNA directed) polypeptide A, 220kDa (POLR2A), mRNA. 420 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|RNA-directed RNA polymerase activity|metal ion binding|ubiquitin protein ligase binding breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 50 Prostate(122;0.173) AGTACATCATCCGAGACAATG 0.532000 63 21 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92534542 92534542 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr11:92534542C>T uc001pdj.4 + 8 8380 c.8363C>T c.(8362-8364)cCc>cTc p.P2788L NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA. 2788 Cadherin 25. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) GCCACTATACCCCTGGACAAA 0.418000 TCGA Ovarian(4;0.039) 43 10 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13829767 13829767 + Missense_Mutation SNP A G G TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr5:13829767A>G uc003jfd.2 - 37 6338 c.6296T>C c.(6295-6297)aTt>aCt p.I2099T NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 2099 AAA 1 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) GCGGAAATTAATCTTCAAGTT 0.463000 Kartagener syndrome 87 13 0 0 1 0 0 CARM1 10498 broad.mit.edu 37 19 11022910 11022910 + Silent SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr19:11022910C>T uc002mpz.3 + 4 735 c.609C>T c.(607-609)gcC>gcT p.A203A CARM1_uc010dxn.3_Non-coding_Transcript|CARM1_uc002mqa.3_5'UTR NM_199141 NP_954592 Q86X55 CARM1_HUMAN Homo sapiens coactivator-associated arginine methyltransferase 1 (CARM1), mRNA. 203 cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleoplasm beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding p.A202V(2)|p.A203P(1) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1) 13 TTTTTGCCGCCCAAGCTGGAG 0.627000 227 64 0 0 1 0 0 DTX2P1-UPK3BP1-PMS2P11 441263 broad.mit.edu 37 7 76681226 76681226 + RNA SNP G C C TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr7:76681226G>C uc003ufy.2 + 4 c.1203G>C Homo sapiens PMS2 postmeiotic segregation increased 2 (S. cerevisiae) pseudogene (LOC100132832), non-coding RNA. TGTCACACTTGAAGGAGGCAG 0.453000 9 2 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 2813131 2813131 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr8:2813131C>T uc022aqr.1 - 63 10364 c.9974G>A c.(9973-9975)gGa>gAa p.G3325E CSMD1_uc011kwj.2_Missense_Mutation_p.G2655E|CSMD1_uc010lrg.3_Missense_Mutation_p.G1217E NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA. 3326 Sushi 28. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) AGGCGACTTTCCTGTCCATTT 0.488000 57 16 0 0 1 0 0 DYSF 8291 broad.mit.edu 37 2 71896784 71896784 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr2:71896784C>T uc010fen.3 + 50 5833 c.5692C>T c.(5692-5694)Cgt>Tgt p.R1898C DYSF_uc010fei.3_Missense_Mutation_p.R1876C|DYSF_uc010feh.3_Missense_Mutation_p.R1866C|DYSF_uc002sig.4_Missense_Mutation_p.R1845C|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.R1890C|DYSF_uc010fee.3_Missense_Mutation_p.R1880C|DYSF_uc010fef.3_Missense_Mutation_p.R1897C|DYSF_uc002sie.3_Missense_Mutation_p.R1859C|DYSF_uc010feo.3_Missense_Mutation_p.R1891C|DYSF_uc010fej.3_Missense_Mutation_p.R1867C|DYSF_uc010fel.3_Missense_Mutation_p.R1846C|DYSF_uc010fem.3_Missense_Mutation_p.R1881C|DYSF_uc002sif.3_Missense_Mutation_p.R1860C|DYSF_uc010fek.3_Missense_Mutation_p.R1877C|DYSF_uc010yqy.2_Missense_Mutation_p.R740C|DYSF_uc010yqz.2_Missense_Mutation_p.R620C NM_001130987 NP_001124459 O75923 DYSF_HUMAN Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA. 1859 cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 CGTGCATTATCGTTCCCTGGG 0.438000 102 29 0 0 1 0 0 STOX2 56977 broad.mit.edu 37 4 184931511 184931511 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr4:184931511G>A uc003ivz.1 + 2 2955 c.1520G>A c.(1519-1521)gGg>gAg p.G507E STOX2_uc003iwa.1_Missense_Mutation_p.G196E NM_020225 NP_064610 Q9P2F5 STOX2_HUMAN Homo sapiens storkhead box 2 (STOX2), mRNA. 507 embryo development|maternal placenta development breast(1)|endometrium(7)|lung(6) 14 all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283) all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227) TCTTCTCTAGGGACGCCGGAA 0.547000 15 4 0 0 1 0 0 WWTR1 25937 broad.mit.edu 37 3 149374934 149374934 + Missense_Mutation SNP T C C TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr3:149374934T>C uc003exf.3 - 1 500 c.160A>G c.(160-162)Aag>Gag p.K54E WWTR1_uc003exe.3_Missense_Mutation_p.K54E|WWTR1_uc021xfm.1_Missense_Mutation_p.K54E|WWTR1_uc003exh.3_Missense_Mutation_p.K54E|AK309441_uc010hvg.1_Non-coding_Transcript|WWTR1-AS1_uc003exi.2_5'Flank NM_015472 NP_056287 Q9GZV5 WWTR1_HUMAN Homo sapiens WW domain containing transcription regulator 1 (WWTR1), transcript variant 1, mRNA. 54 hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent cytoplasm transcription coactivator activity breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1) 23 LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048) TCAGGCTCCTTAAAGAAAGAC 0.632000 T CAMTA1 epitheliod hemangioendothelioma 9 4 0 0 1 0 0 OR1A2 26189 broad.mit.edu 37 17 3100893 3100893 + Silent SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr17:3100893C>T uc002fvd.1 + 0 81 c.81C>T c.(79-81)ttC>ttT p.F27F NM_012352 NP_036484 Q9Y585 OR1A2_HUMAN Homo sapiens olfactory receptor, family 1, subfamily A, member 2 (OR1A2), mRNA. 27 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2) 18 ATAATGTCTTCTTTGTGATTT 0.403000 118 40 0 0 1 0 0 CDCP1 64866 broad.mit.edu 37 3 45127319 45127319 + Silent SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr3:45127319G>A uc003com.3 - 8 2457 c.2322C>T c.(2320-2322)ccC>ccT p.P774P NM_022842 NP_073753 Q9H5V8 CDCP1_HUMAN Homo sapiens CUB domain containing protein 1 (CDCP1), transcript variant 1, mRNA. 774 extracellular region|integral to membrane|plasma membrane p.P774P(2) central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1) 29 BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651) TGGGTGGGGAGGGAGGACAGA 0.617000 86 27 0 0 1 0 0 DONSON 29980 broad.mit.edu 37 21 35281407 35281407 + Missense_Mutation SNP G T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr21:35281407G>T uc002ytl.3 - 3 398 c.307C>A c.(307-309)Ccc>Acc p.P103T DONSON_uc002ysn.1_5'UTR NM_001697 NP_001688 Q9NYP3 DONS_HUMAN Homo sapiens ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit (ATP5O), nuclear gene encoding mitochondrial protein, mRNA. 125 multicellular organismal development nucleus central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1) 11 GTAGTGAGGGGAGAGAACCTC 0.433000 81 19 8.34094e-07 8.41618e-07 1 1 0 CDKL4 344387 broad.mit.edu 37 2 39431685 39431685 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr2:39431685C>T uc010fal.2 - 3 437 c.437G>A c.(436-438)gGg>gAg p.G146E CDKL4_uc002rrm.3_Missense_Mutation_p.G146E NM_001009565 NP_001009565 Q5MAI5 CDKL4_HUMAN Homo sapiens cyclin-dependent kinase-like 4 (CDKL4), mRNA. 146 Protein kinase. cytoplasm ATP binding|cyclin-dependent protein kinase activity breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1) 12 all_hematologic(82;0.248) TTGTGCAAACCCGAAGTCACA 0.279000 36 8 0 0 1 0 0 SERPINA12 145264 broad.mit.edu 37 14 94964180 94964180 + Silent SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr14:94964180G>A uc001ydj.3 - 2 1351 c.555C>T c.(553-555)acC>acT p.T185T NM_173850 NP_776249 Q8IW75 SPA12_HUMAN Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12 (SERPINA12), mRNA. 185 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity p.T185T(4) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 COAD - Colon adenocarcinoma(157;0.235) TTTTCCCATGGGTTTTTTGAC 0.398000 106 40 0 0 1 0 0 PLCE1 51196 broad.mit.edu 37 10 95792002 95792002 + Nonsense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr10:95792002G>A uc001kjk.3 + 1 1833 c.1199G>A c.(1198-1200)tGg>tAg p.W400* PLCE1_uc010qnx.2_Nonsense_Mutation_p.W400* NM_016341 NP_057425 Q9P212 PLCE1_HUMAN Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA. 400 Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction Golgi membrane|cytosol|membrane fraction|plasma membrane Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.0458) GAAGCCCAGTGGTATCCTGTA 0.393000 49 16 0 0 1 0 0 ECHS1 1892 broad.mit.edu 37 10 135184102 135184102 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr10:135184102C>T uc001lmu.3 - 1 319 c.248G>A c.(247-249)gGg>gAg p.G83E NM_004092 NP_004083 P30084 ECHM_HUMAN Homo sapiens enoyl CoA hydratase, short chain, 1, mitochondrial (ECHS1), nuclear gene encoding mitochondrial protein, mRNA. 83 fatty acid beta-oxidation mitochondrial matrix enoyl-CoA hydratase activity|protein binding NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1) 10 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) all cancers(32;1.62e-06)|OV - Ovarian serous cystadenocarcinoma(35;5.75e-06)|Epithelial(32;7.58e-06) GACAATGGCCCCCACGGCCGG 0.627000 19 9 0 0 1 0 0 FXYD1 5348 broad.mit.edu 37 19 35633400 35633400 + Silent SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr19:35633400G>A uc002nyc.3 + 5 302 c.231G>A c.(229-231)gaG>gaA p.E77E LGI4_uc002nxy.1_5'Flank|FXYD1_uc002nyd.3_Silent_p.E77E|FXYD7_uc010xsp.1_5'Flank|FXYD7_uc002nye.1_5'Flank NM_021902 NP_068702 O00168 PLM_HUMAN Homo sapiens FXYD domain containing ion transport regulator 1 (FXYD1), transcript variant b, mRNA. 77 muscle contraction chloride channel complex|integral to plasma membrane chloride channel activity lung(3) 3 all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162) Epithelial(14;2.32e-21)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;2.43e-18)|LUSC - Lung squamous cell carcinoma(66;0.0849) ATGAAGAGGAGGGAACTTTCC 0.622000 77 15 0 0 1 0 0 ZPLD1 131368 broad.mit.edu 37 3 102153961 102153961 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr3:102153961G>A uc003dvt.1 + 0 103 c.3G>A c.(1-3)atG>atA p.M1I ZPLD1_uc003dvs.1_Intron|ZPLD1_uc011bhg.1_5'UTR NM_175056 NP_778226 Q8TCW7 ZPLD1_HUMAN Homo sapiens zona pellucida-like domain containing 1 (ZPLD1), mRNA. 0 integral to membrane central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3) 35 ATGGCAAGATGATGCTCAGGT 0.383000 62 17 0 0 1 0 0 FAM83B 222584 broad.mit.edu 37 6 54806758 54806758 + Nonsense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr6:54806758C>T uc003pck.3 + 4 3105 c.2989C>T c.(2989-2991)Cga>Tga p.R997* NM_001010872 NP_001010872 Q5T0W9 FA83B_HUMAN Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA. 997 p.R997Q(1) autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) GAACAAGTTTCGAGGATTTAT 0.333000 47 20 0 0 1 0 0 MINK1 50488 broad.mit.edu 37 17 4796787 4796787 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr17:4796787C>T uc010vsl.2 + 20 2703 c.2459C>T c.(2458-2460)gCc>gTc p.A820V MINK1_uc010vsk.2_Missense_Mutation_p.A791V|MINK1_uc010vsm.2_Missense_Mutation_p.A800V|MINK1_uc010vsn.2_Missense_Mutation_p.A783V|MINK1_uc010vso.2_Missense_Mutation_p.A728V|MINK1_uc010vsp.2_Missense_Mutation_p.A281V NM_153827 NP_722549 Q8N4C8 MINK1_HUMAN Homo sapiens misshapen-like kinase 1 (MINK1), transcript variant 3, mRNA. 820 JNK cascade cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1) 6 CCCAAGAAGGCCATGGACTAC 0.647000 55 17 0 0 1 0 0 LGALS9C 654346 broad.mit.edu 37 17 18396080 18396080 + Silent SNP T G G TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr17:18396080T>G uc002gtw.3 + 9 901 c.831T>G c.(829-831)gcT>gcG p.A277A LGALS9C_uc010vyb.2_Silent_p.A189A NM_001040078 NP_001035167 Q6DKI2 LEG9C_HUMAN Homo sapiens lectin, galactoside-binding, soluble, 9C (LGALS9C), mRNA. 277 Galectin 2. sugar binding NS(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2) 7 ATGAGAATGCTGTGGTCCGTA 0.572000 95 5 0 0 1 0 0 LMAN1 3998 broad.mit.edu 37 18 57014755 57014755 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr18:57014755C>T uc002lhz.3 - 6 844 c.812G>A c.(811-813)gGa>gAa p.G271E NM_005570 NP_005561 P49257 LMAN1_HUMAN Homo sapiens lectin, mannose-binding, 1 (LMAN1), mRNA. 271 ER to Golgi vesicle-mediated transport|blood coagulation|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|protein transport ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane mannose binding|metal ion binding|unfolded protein binding breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 16 Colorectal(73;0.0946) Antihemophilic Factor(DB00025) CGGCTCTTTTCCAGGTTCAGT 0.323000 15 8 0 0 1 0 0 LIPN 643418 broad.mit.edu 37 10 90528662 90528662 + Silent SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr10:90528662C>T uc010qmw.2 + 4 649 c.649C>T c.(649-651)Cta>Tta p.L217L NM_001102469 NP_001095939 Q5VXI9 LIPN_HUMAN Homo sapiens lipase, family member N (LIPN), mRNA. 217 lipid catabolic process extracellular region hydrolase activity endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1) 9 Colorectal(252;0.0161) Colorectal(12;4.83e-05)|COAD - Colon adenocarcinoma(12;6.5e-05) CAGGTTTTTTCTACTTCCAAA 0.368000 55 13 0 0 1 0 0 RSF1 51773 broad.mit.edu 37 11 77451873 77451873 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr11:77451873G>A uc001oyn.3 - 3 601 c.481C>T c.(481-483)Ctc>Ttc p.L161F NM_016578 NP_057662 Q96T23 RSF1_HUMAN Homo sapiens remodeling and spacing factor 1 (RSF1), mRNA. 161 CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent RSF complex histone binding|protein binding|zinc ion binding breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152) Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31) CAGTACATGAGGCCATCTTTG 0.398000 65 20 0 0 1 0 0 SALL3 27164 broad.mit.edu 37 18 76754779 76754779 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr18:76754779G>A uc002lmt.3 + 1 2788 c.2788G>A c.(2788-2790)Gaa>Aaa p.E930K SALL3_uc010dra.3_Missense_Mutation_p.E537K NM_171999 NP_741996 Q9BXA9 SALL3_HUMAN Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA. 930 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) GGAGCCCCAGGAAATCCCGCT 0.746000 14 3 0 0 1 0 0 CLCN1 1180 broad.mit.edu 37 7 143042803 143042803 + Missense_Mutation SNP C G G TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr7:143042803C>G uc003wcr.1 + 16 2207 c.2120C>G c.(2119-2121)tCc>tGc p.S707C CLCN1_uc011ktc.1_Missense_Mutation_p.S319C NM_000083 NP_000074 P35523 CLCN1_HUMAN Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA. 707 muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) CGGCCCGAGTCCTTCGCCTTT 0.667000 OREG0018402 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 4 0 0 1 0 0 TMPRSS15 5651 broad.mit.edu 37 21 19737500 19737500 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr21:19737500G>A uc002ykw.3 - 6 761 c.730C>T c.(730-732)Cca>Tca p.P244S NM_002772 NP_002763 P98073 ENTK_HUMAN Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA. 244 CUB 1. proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 85 GAAGGTTTTGGATAATGAGTA 0.368000 85 21 0 0 1 0 0 C17orf28 283987 broad.mit.edu 37 17 72954844 72954844 + Silent SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr17:72954844G>A uc002jmj.4 - 9 1313 c.1164C>T c.(1162-1164)ttC>ttT p.F388F C17orf28_uc010wrs.2_Silent_p.F187F NM_030630 NP_085133 Q8IV36 CQ028_HUMAN Homo sapiens chromosome 17 open reading frame 28 (C17orf28), mRNA. 388 integral to membrane|plasma membrane protein binding endometrium(5)|large_intestine(5)|lung(2)|prostate(1)|skin(3)|urinary_tract(1) 17 all_lung(278;0.151)|Lung NSC(278;0.185) TCTTCAGCACGAAGAAGAGGA 0.612000 OREG0024721 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 28 14 0 0 1 0 0 ETV7 51513 broad.mit.edu 37 6 36334677 36334677 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr6:36334677C>T uc003omb.3 - 6 1142 c.883G>A c.(883-885)Gaa>Aaa p.E295K ETV7_uc003olz.2_Missense_Mutation_p.E295K|ETV7_uc003oma.2_Missense_Mutation_p.E240K|ETV7_uc003omc.3_Missense_Mutation_p.E240K|ETV7_uc010jwj.3_Missense_Mutation_p.E236K|ETV7_uc010jwi.3_Missense_Mutation_p.E218K|ETV7_uc010jwh.3_Missense_Mutation_p.E214K|ETV7_uc011dtl.2_Missense_Mutation_p.E144K NM_016135 NP_001193970 Q9Y603 ETV7_HUMAN Homo sapiens ets variant 7 (ETV7), transcript variant 1, mRNA. 295 organ morphogenesis|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4) 10 TGCCCCGGTTCCTTCTTAATG 0.542000 277 75 0 0 1 0 0 CCDC141 285025 broad.mit.edu 37 2 179710443 179710443 + Silent SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr2:179710443C>T uc002une.2 - 21 3502 c.3384G>A c.(3382-3384)ccG>ccA p.P1128P CCDC141_uc002unf.1_Silent_p.P607P NM_173648 NP_775919 Q6ZP82 CC141_HUMAN Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA. 553 protein binding NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1) 78 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) CTTCCAAATTCGGATTCATCT 0.368000 38 18 0 0 1 0 0 KDM1A 23028 broad.mit.edu 37 1 23381647 23381648 + Silent DNP CC TT TT TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr1:23381647_23381648CC>TT uc001bgi.2 + 4 965_966 c.816_817CC>TT c.(814-819)ccccta>ccTTta p.272_273PL>PL KDM1A_uc001bgj.2_Silent_p.292_293PL>PL NM_015013 NP_055828 O60341 KDM1A_HUMAN Homo sapiens lysine (K)-specific demethylase 1A (KDM1A), transcript variant 2, mRNA. 272 SWIRM. blood coagulation|muscle cell development|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nuclear chromatin MyoD binding|androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H3-dimethyl-K4 specific)|ligand-dependent nuclear receptor transcription coactivator activity|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 GGATAAAACCCCTACCAAGTAA 0.376000 103 83 0 0 1 0 0 AQPEP 206338 broad.mit.edu 37 5 115341655 115341655 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr5:115341655C>T uc003kro.3 + 12 2248 c.2084C>T c.(2083-2085)tCc>tTc p.S695F AQPEP_uc003krp.3_Non-coding_Transcript|AQPEP_uc003krs.3_Non-coding_Transcript|AQPEP_uc003krq.3_Non-coding_Transcript|AQPEP_uc003krr.3_Non-coding_Transcript NM_173800 NP_776161 Q6Q4G3 AMPQ_HUMAN Homo sapiens laeverin (AQPEP), mRNA. 695 proteolysis integral to membrane metallopeptidase activity|zinc ion binding GATGCCTTTTCCTTGTCTAAG 0.348000 47 9 0 0 1 0 0 NTF3 4908 broad.mit.edu 37 12 5603549 5603549 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr12:5603549G>A uc001qnl.4 + 0 252 c.169G>A c.(169-171)Gaa>Aaa p.E57K NTF3_uc001qnk.4_Missense_Mutation_p.E70K NM_002527 NP_002518 P20783 NTF3_HUMAN Homo sapiens neurotrophin 3 (NTF3), transcript variant 2, mRNA. 57 signal transduction extracellular region growth factor activity|neurotrophin receptor binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1) 22 GGACGTTAAGGAAAATTACCA 0.527000 88 24 0 0 1 0 0 POLL 27343 broad.mit.edu 37 10 103340153 103340153 + Silent SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr10:103340153G>A uc001ktg.1 - 6 1981 c.1215C>T c.(1213-1215)gcC>gcT p.A405A DPCD_uc010qpz.2_Intron|POLL_uc001ktd.1_Silent_p.A78A|POLL_uc001kte.1_Silent_p.A97A|POLL_uc001kth.1_Silent_p.A130A|POLL_uc001ktj.2_Silent_p.A405A|POLL_uc010qqb.2_Non-coding_Transcript|POLL_uc001ktf.3_Silent_p.A313A|POLL_uc001kti.2_Silent_p.A405A|POLL_uc001ktl.3_Silent_p.A317A|POLL_uc001ktm.3_Silent_p.A405A|POLL_uc010qqc.2_Silent_p.A97A|POLL_uc010qqa.2_Silent_p.A144A NM_013274 NP_037406 Q9UGP5 DPOLL_HUMAN Homo sapiens polymerase (DNA directed), lambda (POLL), transcript variant 2, mRNA. 405 DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes nucleus DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2) 19 Colorectal(252;0.234) Epithelial(162;1.55e-08)|all cancers(201;6.64e-07) CAGAGTTAAAGGCCTGGGCTG 0.607000 DNA polymerases (catalytic subunits) 53 11 0 0 1 0 0 MICAL3 57553 broad.mit.edu 37 22 18273570 18273570 + Silent SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr22:18273570G>A uc002zng.4 - 31 6290 c.5937C>T c.(5935-5937)ctC>ctT p.L1979L MICAL3_uc011agl.2_Silent_p.L1895L|MICAL3_uc010grd.2_Silent_p.L95L|MICAL3_uc010gre.2_Non-coding_Transcript NM_015241 NP_056056 Q7RTP6 MICA3_HUMAN Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 3 (MICAL3), transcript variant 1, mRNA. 1979 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 4 all_epithelial(15;0.198) Lung(27;0.0427) CTCTCTCCCGGAGCCGCTGCT 0.582000 26 7 0 0 1 0 0 CLCN1 1180 broad.mit.edu 37 7 143028643 143028643 + Splice_Site SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr7:143028643G>A uc003wcr.1 + 10 1152 c.1065_splice c.e10-1 p.G355_splice CLCN1_uc011ktc.1_Splice_Site_p.G17_splice NM_000083 NP_000074 P35523 CLCN1_HUMAN Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA. 355 muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) TACACCCTCAGGATTTGCTGT 0.473000 63 15 0 0 1 0 0 COL4A5 1287 broad.mit.edu 37 X 107838825 107838825 + Missense_Mutation SNP C T T rs104886330 TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chrX:107838825C>T uc022ccg.1 + 21 1712 c.1510C>T c.(1510-1512)Cct>Tct p.P504S COL4A5_uc004enz.1_Missense_Mutation_p.P504S|COL4A5_uc004eob.1_Missense_Mutation_p.P112S NM_033380 NP_203699 P29400 CO4A5_HUMAN Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA. 504 Triple-helical region. Missing (in APSX; juvenile type). axon guidance collagen type IV extracellular matrix structural constituent|protein binding p.P504S(2) NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 TCTCCCAGGTCCTCCAGGTAA 0.403000 Alport syndrome with Diffuse Leiomyomatosis 53 16 0 0 1 0 0 RWDD4 201965 broad.mit.edu 37 4 184562617 184562617 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr4:184562617C>T uc021xvb.1 - 7 765 c.539G>A c.(538-540)aGc>aAc p.S180N RWDD4_uc003ivt.1_Missense_Mutation_p.S179N NM_152682 NP_689895 Q6NW29 RWDD4_HUMAN Homo sapiens RWD domain containing 4 (RWDD4), mRNA. 180 large_intestine(2)|lung(4)|ovary(1)|prostate(1) 8 GCCAGTTTTGCTTAACTATAA 0.328000 105 25 0 0 1 0 0 TOX 9760 broad.mit.edu 37 8 59727942 59727942 + Silent SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr8:59727942G>A uc003xtw.1 - 6 1568 c.1347C>T c.(1345-1347)ctC>ctT p.L449L NM_014729 NP_055544 O94900 TOX_HUMAN Homo sapiens thymocyte selection-associated high mobility group box (TOX), mRNA. 449 nucleus DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1) 33 all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607) CCTGCATGGGGAGCTGGTTCC 0.592000 57 14 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55540577 55540577 + Missense_Mutation SNP G A A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr8:55540577G>A uc003xsd.1 + 3 4283 c.4135G>A c.(4135-4137)Gaa>Aaa p.E1379K RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA. 1379 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) GACAGACCCTGAATATAAAAA 0.328000 88 13 0 0 1 0 0 PCDHB16 57717 broad.mit.edu 37 5 140563687 140563687 + Missense_Mutation SNP C T T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr5:140563687C>T uc003liv.3 + 0 2708 c.1553C>T c.(1552-1554)tCg>tTg p.S518L NM_020957 NP_066008 Q9NRJ7 PCDBG_HUMAN Homo sapiens protocadherin beta 16 (PCDHB16), mRNA. 518 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1) 69 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCCCTCAGGTCGCTGGACTAC 0.697000 48 39 0 0 1 0 0 OR2T35 403244 broad.mit.edu 37 1 248801602 248801603 + Frame_Shift_Ins INS - CA CA TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr1:248801602_248801603insCA uc001ies.1 - 0 957_958 c.957_958insTG c.(955-960)gtgatcfs p.V319fs NM_001001827 NP_001001827 Q8NGX2 O2T35_HUMAN Homo sapiens olfactory receptor, family 2, subfamily T, member 35 (OR2T35), mRNA. 319 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I320fs*1(2) endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1) 6 all_cancers(71;2.04e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.237) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CCCTTCCTGATCACAGTCGCCA 0.545 --- 4 --- --- 3 --- IDO2 169355 broad.mit.edu 37 8 39847305 39847306 + Frame_Shift_Del DEL GC - - TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr8:39847305_39847306delGC uc010lwy.1 + 7 896_897 c.654_655delGC c.(652-657)cagcgafs p.Q218fs IDO2_uc003xno.1_Non-coding_Transcript|IDO2_uc010lwz.1_5'UTR|IDO2_uc003xnp.1_5'UTR NM_194294 NP_919270 Q6ZQW0 I23O2_HUMAN Homo sapiens indoleamine 2,3-dioxygenase 2 (IDO2), mRNA. 205 tryptophan catabolic process to kynurenine cytosol heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1) 18 AAGCCCTGCAGCGACTGAGACT 0.535 OREG0018729 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) --- 14 --- --- 10 --- CACNA1C 775 broad.mit.edu 37 12 2778120 2778127 + Frame_Shift_Del DEL CCTCTGAA - - TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr12:2778120_2778127delCCTCTGAA uc009zdu.1 + 39 5102_5109 c.4789_4796delCCTCTGAA c.(4789-4797)cctctgaacfs p.P1597fs CACNA1C_uc001qkc.2_Frame_Shift_Del_p.P1549fs|CACNA1C_uc001qjz.2_Frame_Shift_Del_p.P1549fs|CACNA1C_uc001qkd.2_Frame_Shift_Del_p.P1549fs|CACNA1C_uc001qke.2_Frame_Shift_Del_p.P1538fs|CACNA1C_uc001qkf.2_Frame_Shift_Del_p.P1538fs|CACNA1C_uc009zdw.1_Frame_Shift_Del_p.P1571fs|CACNA1C_uc001qkg.2_Frame_Shift_Del_p.P1536fs|CACNA1C_uc001qkh.2_Frame_Shift_Del_p.P1538fs|CACNA1C_uc001qkl.2_Frame_Shift_Del_p.P1597fs|CACNA1C_uc001qkj.2_Frame_Shift_Del_p.P1549fs|CACNA1C_uc001qkk.2_Frame_Shift_Del_p.P1549fs|CACNA1C_uc001qkn.2_Frame_Shift_Del_p.P1549fs|CACNA1C_uc001qkm.2_Frame_Shift_Del_p.P1538fs|CACNA1C_uc001qko.2_Frame_Shift_Del_p.P1569fs|CACNA1C_uc001qkp.2_Frame_Shift_Del_p.P1549fs|CACNA1C_uc001qkq.2_Frame_Shift_Del_p.P1577fs|CACNA1C_uc001qku.2_Frame_Shift_Del_p.P1549fs|CACNA1C_uc001qkr.2_Frame_Shift_Del_p.P1566fs|CACNA1C_uc001qks.2_Frame_Shift_Del_p.P1549fs|CACNA1C_uc001qkt.2_Frame_Shift_Del_p.P1549fs|CACNA1C_uc009zdv.1_Frame_Shift_Del_p.P1546fs|CACNA1C_uc001qkb.2_Frame_Shift_Del_p.P1549fs|CACNA1C_uc001qki.1_Frame_Shift_Del_p.P1285fs|CACNA1C_uc010sea.1_Frame_Shift_Del_p.P240fs NM_199460 NP_955630 Q13936 CAC1C_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA. 1597 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 NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 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) CATGAACATGCCTCTGAACAGCGACGGG 0.587 --- 120 --- --- 18 --- UNG 7374 broad.mit.edu 37 12 109536377 109536378 + Frame_Shift_Ins INS - GT GT TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr12:109536377_109536378insGT uc001tnz.2 + 1 359_360 c.273_274insGT c.(271-276)cccgtgfs p.P91fs UNG_uc001toa.2_Frame_Shift_Ins_p.P82fs NM_080911 NP_550433 P13051 UNG_HUMAN Homo sapiens uracil-DNA glycosylase (UNG), transcript variant 2, mRNA. 91 base-excision repair|interspecies interaction between organisms mitochondrion|nucleus protein binding|uracil DNA N-glycosylase activity p.K90M(1) central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1) 9 GCAACGTGCCCGTGGGCTTTGG 0.594 Base excision repair (BER), DNA glycosylases Immune Deficiency with Hyper-IgM --- 105 --- --- 15 --- ARHGAP35 2909 broad.mit.edu 37 19 47423663 47423665 + In_Frame_Del DEL GTT - - TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr19:47423663_47423665delGTT uc010ekv.3 + 0 1731_1733 c.1731_1733delGTT c.(1729-1734)cggttt>cgt p.F578del NM_004491 NP_004482 Q9NRY4 RHG35_HUMAN Homo sapiens Rho GTPase activating protein 35 (ARHGAP35), mRNA. 578 axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol DNA binding|Rho GTPase activator activity|transcription corepressor activity TTAGTTCTCGGTTTATCCGGCCG 0.468 --- 137 --- --- 14 --- BRD1 23774 broad.mit.edu 37 22 50187690 50187690 + Frame_Shift_Del DEL C - - TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c69d54bb-f02f-4d3b-a943-d78f533126d1 fd7fa04c-bcad-4e08-9fe9-c38b3ee56ab6 g.chr22:50187690delC uc011arg.2 - 6 2512 c.2498delG c.(2497-2499)ggcfs p.G833fs BRD1_uc011arf.2_Frame_Shift_Del_p.G379fs|BRD1_uc021wrv.1_Non-coding_Transcript|BRD1_uc003biv.3_Frame_Shift_Del_p.G784fs|BRD1_uc021wrw.1_Non-coding_Transcript|BRD1_uc003biu.4_Frame_Shift_Del_p.G784fs NM_014577 NP_055392 O95696 BRD1_HUMAN Homo sapiens bromodomain containing 1 (BRD1), mRNA. 784 histone H3 acetylation MOZ/MORF histone acetyltransferase complex zinc ion binding endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1) 37 all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21) ACCTTCCTCGCCCGCCTCCGG 0.687 --- 48 --- --- 12 ---