Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut KLK6 5653 broad.mit.edu 37 19 51462453 51462453 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr19:51462453C>T ENST00000376853.4 - 3 327 c.317G>A c.(316-318)cGa>cAa p.R106Q KLK6_ENST00000376851.3_Silent_p.T234T|KLK6_ENST00000310157.2_Silent_p.T234T|KLK6_ENST00000594641.1_Silent_p.T234T|CTB-147C22.8_ENST00000601506.1_RNA|KLK6_ENST00000456750.2_Silent_p.T127T|KLK6_ENST00000391808.1_Silent_p.T127T Q92876 KLK6_HUMAN kallikrein-related peptidase 6 0 Peptidase S1. amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus protein binding|serine-type endopeptidase activity endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4) 13 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871) GGATCCAGTTCGTGTATCTGC 0.537000 64 100 0 0 1 0 0 PCNXL4 64430 broad.mit.edu 37 14 60585321 60585321 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr14:60585321C>T ENST00000406854.1 + 7 2407 c.1853C>T c.(1852-1854)gCc>gTc p.A618V PCNXL4_ENST00000317623.4_Missense_Mutation_p.A384V|PCNXL4_ENST00000535349.1_5'UTR|PCNXL4_ENST00000406949.1_Missense_Mutation_p.A384V|PCNXL4_ENST00000404681.2_Missense_Mutation_p.A618V pecanex-like 4 (Drosophila) GGCACCACAGCCTGTGTGTGT 0.512000 16 23 0 0 1 0 0 TMOD3 29766 broad.mit.edu 37 15 52188633 52188633 + Silent SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr15:52188633C>T ENST00000308580.7 + 7 926 c.645C>T c.(643-645)acC>acT p.T215T TMOD3_ENST00000544199.1_Silent_p.T215T|RP11-56B16.5_ENST00000558142.1_RNA NM_014547.4 NP_055362.1 Q9NYL9 TMOD3_HUMAN tropomodulin 3 (ubiquitous) 215 cytoplasm|cytoskeleton actin binding|tropomyosin binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|stomach(1) 14 all cancers(107;0.00194) CAATTCCAACCCTAAAAGATT 0.333000 25 60 0 0 1 0 0 GABRE 2564 broad.mit.edu 37 X 151130975 151130975 + Silent SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chrX:151130975C>T ENST00000370325.1 - 4 536 c.483G>A c.(481-483)aaG>aaA p.K161K GABRE_ENST00000393914.3_5'UTR|GABRE_ENST00000370328.3_Silent_p.K161K P78334 GBRE_HUMAN gamma-aminobutyric acid (GABA) A receptor, epsilon 161 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1) 27 Acute lymphoblastic leukemia(192;6.56e-05) CGTGGGTCCTCTTAGAATTCC 0.488000 49 52 0 0 1 0 0 USP7 7874 broad.mit.edu 37 16 9017204 9017204 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr16:9017204G>A ENST00000344836.4 - 3 449 c.251C>T c.(250-252)tCg>tTg p.S84L USP7_ENST00000381886.4_Missense_Mutation_p.S68L|USP7_ENST00000566224.1_5'UTR|USP7_ENST00000535863.1_5'UTR NM_003470.2 NP_003461.2 Q93009 UBP7_HUMAN ubiquitin specific peptidase 7 (herpes virus-associated) 84 Interaction with TSPYL5.|Interaction with p53/TP53, MDM2 and EBNA1.|MATH.|Necessary for nuclear localization. interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process cytoplasm|PML body 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 GCTAAGGACCGACTCACTCAG 0.498000 31 58 0 0 1 0 0 ERC2 26059 broad.mit.edu 37 3 56114910 56114910 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr3:56114910C>T ENST00000288221.6 - 7 1831 c.1576G>A c.(1576-1578)Gaa>Aaa p.E526K NM_015576.1 NP_056391.1 O15083 ERC2_HUMAN ELKS/RAB6-interacting/CAST family member 2 526 cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) TCACGAATTTCACCGGCCAGT 0.398000 15 17 0 0 1 0 0 TMEM216 51259 broad.mit.edu 37 11 61161357 61161357 + Splice_Site SNP T T G TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr11:61161357T>G ENST00000515837.2 + 3 1083 c.136_splice c.e3-1 p.G46_splice TMEM216_ENST00000398979.3_5'UTR|TMEM216_ENST00000334888.5_Splice_Site_p.G46_splice Q9P0N5 TM216_HUMAN transmembrane protein 216 39 integral to membrane p.G46G(3) endometrium(1)|large_intestine(2)|lung(1)|prostate(2) 6 TATTGGCAGGTGTCCTGCTAC 0.438000 8 32 0 0 1 0 0 TMPRSS11F 389208 broad.mit.edu 37 4 68939683 68939683 + Silent SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr4:68939683G>A ENST00000356291.2 - 4 386 c.327C>T c.(325-327)atC>atT p.I109I RP11-453E17.1_ENST00000499180.2_RNA|RP11-453E17.1_ENST00000511571.1_RNA|RP11-453E17.1_ENST00000500538.2_RNA NM_207407.2 NP_997290.2 Q6ZWK6 TM11F_HUMAN transmembrane protease, serine 11F 109 SEA. proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4) 39 CATGAGATTTGATAAATCGAC 0.274000 10 3 0 0 1 0 0 PCNXL4 64430 broad.mit.edu 37 14 60581743 60581743 + Silent SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr14:60581743C>T ENST00000406854.1 + 4 1475 c.921C>T c.(919-921)ttC>ttT p.F307F PCNXL4_ENST00000317623.4_Silent_p.F73F|PCNXL4_ENST00000406949.1_Silent_p.F73F|PCNXL4_ENST00000404681.2_Silent_p.F307F pecanex-like 4 (Drosophila) CATCATATTTCATTCCAAGCA 0.328000 24 25 0 0 1 0 0 ADAD1 132612 broad.mit.edu 37 4 123317444 123317444 + Silent SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr4:123317444C>T ENST00000296513.2 + 7 821 c.636C>T c.(634-636)atC>atT p.I212I ADAD1_ENST00000388725.2_Silent_p.I194I|ADAD1_ENST00000492454.1_3'UTR|ADAD1_ENST00000388724.2_Silent_p.I212I NM_139243.3 NP_640336.1 Q96M93 ADAD1_HUMAN adenosine deaminase domain containing 1 (testis-specific) 212 multicellular organismal development|RNA processing nucleus adenosine deaminase activity|double-stranded RNA binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 35 TTTCACAGATCGTTAAAGAAA 0.308000 18 29 0 0 1 0 0 RPS6 6194 broad.mit.edu 37 9 19379559 19379559 + Translation_Start_Site SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr9:19379559G>A ENST00000380384.1 - 0 645 RPS6_ENST00000380394.4_Missense_Mutation_p.R22C|RPS6_ENST00000315377.4_De_novo_Start_OutOfFrame|RPS6_ENST00000380381.3_Missense_Mutation_p.R22C P62753 RS6_HUMAN ribosomal protein S6 endocrine pancreas development|glucose homeostasis|insulin receptor signaling pathway|positive regulation of apoptosis|rRNA processing|TOR signaling cascade|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit|nucleolus protein binding endometrium(3)|lung(2)|ovary(1)|urinary_tract(1) 7 Colorectal(97;3.46e-05)|Myeloproliferative disorder(762;0.0255) Lung(42;0.161)|LUSC - Lung squamous cell carcinoma(42;0.234) CGAAGTTTGCGTTCATCGTCC 0.443000 37 57 0 0 1 0 0 GLIPR1L2 144321 broad.mit.edu 37 12 75804348 75804348 + Silent SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr12:75804348C>T ENST00000550916.1 + 2 416 c.369C>T c.(367-369)ggC>ggT p.G123G GLIPR1L2_ENST00000435775.1_Silent_p.G123G|GLIPR1L2_ENST00000378692.3_Silent_p.G16G|GLIPR1L2_ENST00000547164.1_Silent_p.G123G|GLIPR1L2_ENST00000441218.1_Silent_p.G58G|GLIPR1L2_ENST00000320460.4_Silent_p.G123G NM_001270396.1 NP_001257325.1 Q4G1C9 GRPL2_HUMAN GLI pathogenesis-related 1 like 2 123 integral to membrane kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 16 TGTGGGTCGGCCCTGAAAATG 0.348000 28 30 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179566258 179566258 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr2:179566258C>T ENST00000589042.1 - 110 30819 c.30595G>A c.(30595-30597)Gaa>Aaa p.E10199K TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E9882K|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E8955K NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 9882 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) GTCTTACCTTCTGGTGGCACT 0.458000 10 42 0 0 1 0 0 RSPH10B2 728194 broad.mit.edu 37 7 6797468 6797468 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr7:6797468G>A ENST00000403107.1 + 2 547 c.160G>A c.(160-162)Gaa>Aaa p.E54K RSPH10B2_ENST00000433859.2_Missense_Mutation_p.E54K|RSPH10B2_ENST00000404077.1_Missense_Mutation_p.E54K|RSPH10B2_ENST00000359718.3_5'UTR|RSPH10B2_ENST00000297186.3_Missense_Mutation_p.E54K radial spoke head 10 homolog B2 (Chlamydomonas) p.E54K(2) breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|skin(2) 15 GCAGCTCAACGAAGTGAAACC 0.463000 60 131 0 0 1 0 0 ASIC5 51802 broad.mit.edu 37 4 156784810 156784810 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr4:156784810G>A ENST00000537611.2 - 2 183 c.137C>T c.(136-138)tCc>tTc p.S46F TDO2_ENST00000506181.1_Intron NM_017419.2 NP_059115.1 Q9NY37 ACCN5_HUMAN acid-sensing (proton-gated) ion channel family member 5 46 integral to membrane|plasma membrane CCCATGAAAGGAAGTGGAGAT 0.463000 23 49 0 0 1 0 0 ACSM4 341392 broad.mit.edu 37 12 7469784 7469784 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr12:7469784G>A ENST00000399422.4 + 4 720 c.672G>A c.(670-672)atG>atA p.M224I NM_001080454.1 NP_001073923.1 P0C7M7 ACSM4_HUMAN acyl-CoA synthetase medium-chain family member 4 224 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding endometrium(6)|kidney(1)|lung(14) 21 AAGAACCAATGACCATTTATT 0.517000 5 18 0 0 1 0 0 KCTD10 83892 broad.mit.edu 37 12 109889441 109889441 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr12:109889441G>A ENST00000228495.6 - 7 1182 c.901C>T c.(901-903)Cac>Tac p.H301Y KCTD10_ENST00000540411.1_Missense_Mutation_p.H275Y|KCTD10_ENST00000538161.1_5'UTR|KCTD10_ENST00000424763.2_Missense_Mutation_p.H120Y|KCTD10_ENST00000540089.1_Missense_Mutation_p.H120Y NM_031954.3 NP_114160.1 Q9H3F6 BACD3_HUMAN potassium channel tetramerization domain containing 10 301 proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination Cul3-RING ubiquitin ligase complex|cytoplasm|nucleus|voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1) 10 CGCTTGATGTGGATCCTCCGC 0.706000 36 44 0 0 1 0 0 MYH13 8735 broad.mit.edu 37 17 10250059 10250059 + Silent SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr17:10250059G>A ENST00000418404.3 - 12 1364 c.1201C>T c.(1201-1203)Ctg>Ttg p.L401L MYH13_ENST00000252172.4_Silent_p.L401L|MYH13_ENST00000570743.1_Silent_p.L401L Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 401 Myosin head-like. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 GGACAGCACAGGCCCTTCAGC 0.453000 24 41 0 0 1 0 0 LCLAT1 253558 broad.mit.edu 37 2 30682518 30682518 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr2:30682518C>T ENST00000309052.4 + 2 249 c.40C>T c.(40-42)Cca>Tca p.P14S LCLAT1_ENST00000540623.1_5'UTR|LCLAT1_ENST00000359433.1_Missense_Mutation_p.P14S|LCLAT1_ENST00000491680.2_Intron|LCLAT1_ENST00000319406.4_Missense_Mutation_p.P14S|LCLAT1_ENST00000379509.3_Intron NM_182551.3 NP_872357.2 Q6UWP7 LCLT1_HUMAN lysocardiolipin acyltransferase 1 14 multicellular organismal development|phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane 1-acylglycerol-3-phosphate O-acyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2) 19 GCTTCTGAACCCATGGTCAAT 0.428000 36 174 0 0 1 0 0 ANKRD29 147463 broad.mit.edu 37 18 21197786 21197786 + Silent SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr18:21197786G>A ENST00000592179.1 - 8 787 c.633C>T c.(631-633)ggC>ggT p.G211G ANKRD29_ENST00000322980.9_Silent_p.G211G|ANKRD29_ENST00000284207.7_Silent_p.G211G NM_173505.2 NP_775776.2 Q8N6D5 ANR29_HUMAN ankyrin repeat domain 29 211 breast(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1) 13 all_cancers(21;5.07e-05)|all_epithelial(16;2.49e-07)|Lung NSC(20;0.00211)|all_lung(20;0.00676)|Colorectal(14;0.0202)|Ovarian(20;0.127) ATGCTGTTGTGCCATCCTTAA 0.363000 7 13 0 0 1 0 0 PTPRB 5787 broad.mit.edu 37 12 70932725 70932725 + Nonsense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr12:70932725G>A ENST00000334414.6 - 27 5892 c.5848C>T c.(5848-5850)Cga>Tga p.R1950* RP11-588H23.3_ENST00000548687.1_RNA|PTPRB_ENST00000538708.1_Nonsense_Mutation_p.R1642*|PTPRB_ENST00000550358.1_Nonsense_Mutation_p.R1862*|PTPRB_ENST00000550857.1_Nonsense_Mutation_p.R1642*|PTPRB_ENST00000261266.5_Nonsense_Mutation_p.R1732*|PTPRB_ENST00000451516.2_Nonsense_Mutation_p.R1642* NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1732 Tyrosine-protein phosphatase. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity p.R1950*(1)|p.R1732*(1) breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) TTGTTGTATCGATTTTTCCCT 0.383000 7 6 0 0 1 0 0 MED12 9968 broad.mit.edu 37 X 70347230 70347230 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chrX:70347230C>T ENST00000333646.6 + 21 3093 c.2894C>T c.(2893-2895)tCc>tTc p.S965F MED12_ENST00000374102.1_Missense_Mutation_p.S965F|MED12_ENST00000374080.3_Missense_Mutation_p.S965F NM_005120.2 NP_005111.2 Q93074 MED12_HUMAN mediator complex subunit 12 965 androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3) 420 Renal(35;0.156) TCCGATGGCTCCTCTGCAGAG 0.522000 """M, S""" uterine leiomyoma Opitz-Kaveggia Syndrome 16 28 0 0 1 0 0 CYBB 1536 broad.mit.edu 37 X 37655208 37655208 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chrX:37655208C>T ENST00000378588.4 + 6 555 c.488C>T c.(487-489)cCt>cTt p.P163L CYBB_ENST00000545017.1_Missense_Mutation_p.P131L|CYBB_ENST00000536160.1_Intron|TM4SF2_ENST00000465127.1_Intron NM_000397.3 NP_000388.2 P04839 CY24B_HUMAN cytochrome b-245, beta polypeptide 163 Ferric oxidoreductase. electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation NADPH oxidase complex electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2) 32 TTACAGAACCCTGAAGGAGGC 0.463000 23 28 0 0 1 0 0 SLC34A1 6569 broad.mit.edu 37 5 176812796 176812796 + Silent SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr5:176812796C>T ENST00000324417.5 + 2 145 c.54C>T c.(52-54)gtC>gtT p.V18V SLC34A1_ENST00000512593.1_Silent_p.V18V NM_003052.4 NP_003043.3 Q06495 NPT2A_HUMAN solute carrier family 34 (type II sodium/phosphate contransporter), member 1 18 phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport brush border membrane|integral to plasma membrane protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) 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) CACTCCCAGTCCGTGGGGGGC 0.647000 14 5 0 0 1 0 0 HCFC2 29915 broad.mit.edu 37 12 104489342 104489342 + Splice_Site SNP G G C TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr12:104489342G>C ENST00000229330.4 + 11 1770 c.e11+1 HCFC2_ENST00000550335.1_Splice_Site NM_013320.2 NP_037452.1 Q9Y5Z7 HCFC2_HUMAN host cell factor C2 regulation of transcription from RNA polymerase II promoter|viral reproduction cytoplasm|nucleus transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 35 AAATCTGAAGGTTTGAAATGT 0.333000 28 24 0 0 1 0 0 HLA-F 3134 broad.mit.edu 37 6 29692214 29692214 + Missense_Mutation SNP T T C TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr6:29692214T>C ENST00000440587.2 + 3 604 c.245T>C c.(244-246)cTa>cCa p.L82P HLA-F_ENST00000376861.1_Missense_Mutation_p.L200P|HLA-F_ENST00000334668.4_Missense_Mutation_p.L200P|HLA-F_ENST00000259951.7_Missense_Mutation_p.L200P|HLA-F_ENST00000434407.2_Missense_Mutation_p.L200P P30511 HLAF_HUMAN major histocompatibility complex, class I, F 200 Alpha-1. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex MHC class I receptor activity cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 8 AAGGAGACGCTACAGCGCGCA 0.572000 16 68 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41539173 41539173 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr21:41539173G>A ENST00000400454.1 - 16 3467 c.2990C>T c.(2989-2991)tCa>tTa p.S997L NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 997 Fibronectin type-III 2. 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) GCTCTGAGATGATATAGGCTC 0.517000 56 62 0 0 1 0 0 CALD1 800 broad.mit.edu 37 7 134635258 134635258 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr7:134635258C>T ENST00000361388.2 + 9 1707 c.1241C>T c.(1240-1242)tCt>tTt p.S414F CALD1_ENST00000361675.2_Missense_Mutation_p.S643F|CALD1_ENST00000495522.1_Missense_Mutation_p.S408F|CALD1_ENST00000543443.1_Missense_Mutation_p.S393F|CALD1_ENST00000393118.2_Missense_Mutation_p.S408F|CALD1_ENST00000422748.1_Missense_Mutation_p.S414F|CALD1_ENST00000417172.1_Missense_Mutation_p.S388F|CALD1_ENST00000424922.1_Missense_Mutation_p.S382F|CALD1_ENST00000361901.2_Missense_Mutation_p.S388F|CALD1_ENST00000466704.1_3'UTR NM_033138.3|NM_033157.3 NP_149129.2|NP_149347.2 Q05682 CALD1_HUMAN caldesmon 1 643 cellular component movement|muscle contraction cytosol|focal adhesion|myofibril actin binding|calmodulin binding|myosin binding|tropomyosin binding NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10) 43 AAAGGTTCATCTCTCAAGGTA 0.403000 55 47 0 0 1 0 0 PLA2G4D 283748 broad.mit.edu 37 15 42364019 42364019 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr15:42364019C>T ENST00000290472.3 - 15 1620 c.1526G>A c.(1525-1527)gGa>gAa p.G509E NM_178034.3 NP_828848.3 Q86XP0 PA24D_HUMAN phospholipase A2, group IVD (cytosolic) 509 PLA2c. phospholipid catabolic process cytoplasmic vesicle membrane|cytosol metal ion binding|phospholipase A2 activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1) 27 all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245) OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06) CATCAGCCGTCCCATGAAGAA 0.607000 61 63 0 0 1 0 0 COL11A1 1301 broad.mit.edu 37 1 103471841 103471841 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr1:103471841G>A ENST00000358392.2 - 16 2067 c.1750C>T c.(1750-1752)Cca>Tca p.P584S COL11A1_ENST00000370096.3_Missense_Mutation_p.P572S|COL11A1_ENST00000353414.4_Missense_Mutation_p.P533S|COL11A1_ENST00000512756.1_Missense_Mutation_p.P456S|COL11A1_ENST00000461720.1_5'UTR NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 572 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) TTTCCCGTTGGACCAGGGGGA 0.358000 34 57 0 0 1 0 0 VPS16 64601 broad.mit.edu 37 20 2843991 2843991 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr20:2843991C>T ENST00000380445.3 + 15 1495 c.1423C>T c.(1423-1425)Ctt>Ttt p.L475F VPS16_ENST00000481812.2_3'UTR|VPS16_ENST00000380469.3_Missense_Mutation_p.L331F|VPS16_ENST00000380443.3_Missense_Mutation_p.L161F NM_022575.2 NP_072097.2 Q9H269 VPS16_HUMAN vacuolar protein sorting 16 homolog (S. cerevisiae) 475 intracellular protein transport early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 37 GTACTTGCGCCTTCCTGAAGT 0.582000 51 47 0 0 1 0 0 ALPP 250 broad.mit.edu 37 2 233244522 233244522 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr2:233244522C>T ENST00000392027.2 + 5 802 c.533C>T c.(532-534)cCa>cTa p.P178L AC068134.8_ENST00000439072.1_RNA|AC068134.8_ENST00000441266.1_RNA NM_001632.3 NP_001623.3 P05187 PPB1_HUMAN alkaline phosphatase, placental 178 anchored to membrane|cell surface|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2) 22 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196) CACGCCTCGCCAGCCGGCACC 0.642000 12 46 0 0 1 0 0 CRYGD 1421 broad.mit.edu 37 2 208986540 208986540 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr2:208986540C>T ENST00000264376.4 - 3 409 c.382G>A c.(382-384)Gag>Aag p.E128K NM_006891.3 NP_008822.2 P07320 CRGD_HUMAN crystallin, gamma D 128 Beta/gamma crystallin 'Greek key' 3. cellular response to reactive oxygen species|visual perception soluble fraction protein binding|structural constituent of eye lens breast(1)|endometrium(1)|lung(3) 5 LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133) CAGGAGCCCTCCAGCACGTTG 0.582000 51 37 0 0 1 0 0 MTFMT 123263 broad.mit.edu 37 15 65319317 65319317 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr15:65319317G>A ENST00000220058.4 - 2 284 c.271C>T c.(271-273)Cca>Tca p.P91S NM_139242.3 NP_640335.2 Q96DP5 FMT_HUMAN mitochondrial methionyl-tRNA formyltransferase 91 mitochondrion methionyl-tRNA formyltransferase activity|methyltransferase activity endometrium(1)|large_intestine(3)|lung(3)|ovary(3) 10 Tetrahydrofolic acid(DB00116) AGTCCTTTTGGTGATGGGGAA 0.453000 21 34 0 0 1 0 0 AMOT 154796 broad.mit.edu 37 X 112022866 112022866 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chrX:112022866G>A ENST00000371959.3 - 10 2515 c.2516C>T c.(2515-2517)tCc>tTc p.S839F AMOT_ENST00000304758.1_Missense_Mutation_p.S430F|AMOT_ENST00000524145.1_Missense_Mutation_p.S839F|AMOT_ENST00000371962.1_Missense_Mutation_p.S607F NM_001113490.1 NP_001106962.1 Q4VCS5 AMOT_HUMAN angiomotin 839 actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction angiostatin binding|protein binding|receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 43 CGAGGGTGTGGAAGGGACATA 0.527000 37 55 0 0 1 0 0 PTPRC 5788 broad.mit.edu 37 1 198665871 198665871 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr1:198665871C>T ENST00000367376.2 + 4 296 c.125C>T c.(124-126)cCa>cTa p.P42L PTPRC_ENST00000348564.6_Intron|PTPRC_ENST00000391970.3_Intron|PTPRC_ENST00000442510.2_Missense_Mutation_p.P44L|PTPRC_ENST00000594404.1_Intron|PTPRC_ENST00000352140.3_Missense_Mutation_p.P42L NM_002838.4 NP_002829.3 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 42 axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 111 CCCAGTGTTCCACTTTCAAGT 0.413000 79 72 0 0 1 0 0 RNF8 9025 broad.mit.edu 37 6 37348955 37348955 + Silent SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr6:37348955C>T ENST00000373479.4 + 7 1459 c.1266C>T c.(1264-1266)ttC>ttT p.F422F RNF8_ENST00000469731.1_Intron NM_003958.3|NM_183078.2 NP_003949.1|NP_898901.1 O76064 RNF8_HUMAN ring finger protein 8, E3 ubiquitin protein ligase 422 cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation midbody|nucleus|ubiquitin ligase complex chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1) 13 CCCACAGTTTCTGCTCCTACT 0.428000 54 166 0 0 1 0 0 ZMYND15 84225 broad.mit.edu 37 17 4646624 4646624 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr17:4646624G>A ENST00000433935.1 + 6 1228 c.1171G>A c.(1171-1173)Gag>Aag p.E391K ZMYND15_ENST00000573751.2_Missense_Mutation_p.E391K|ZMYND15_ENST00000592813.1_Missense_Mutation_p.E391K|ZMYND15_ENST00000269289.6_Missense_Mutation_p.E391K NM_001136046.2|NM_001267822.1 NP_001129518.1|NP_001254751.1 Q9H091 ZMY15_HUMAN zinc finger, MYND-type containing 15 391 zinc ion binding endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2) 18 CTTCAACAAAGAGGCCTTCCT 0.557000 86 29 0 0 1 0 0 FMN2 56776 broad.mit.edu 37 1 240286601 240286601 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr1:240286601G>A ENST00000319653.9 + 2 1968 c.1738G>A c.(1738-1740)Gaa>Aaa p.E580K NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 580 actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) TTGCTTCAGGGAACCGTGTAA 0.493000 70 43 0 0 1 0 0 XYLT1 64131 broad.mit.edu 37 16 17211801 17211801 + Silent SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr16:17211801G>A ENST00000261381.6 - 11 2343 c.2259C>T c.(2257-2259)ttC>ttT p.F753F NM_022166.3 NP_071449.1 Q86Y38 XYLT1_HUMAN xylosyltransferase I 753 glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 CAAAGTTGCGGAATAGCCTCT 0.567000 27 53 0 0 1 0 0 CCDC88B 283234 broad.mit.edu 37 11 64117138 64117138 + Nonsense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr11:64117138C>T ENST00000356786.5 + 16 2904 c.2860C>T c.(2860-2862)Cag>Tag p.Q954* CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000359902.2_Nonsense_Mutation_p.Q106*|CCDC88B_ENST00000301897.4_5'UTR NM_032251.5 NP_115627.6 A6NC98 CC88B_HUMAN coiled-coil domain containing 88B 954 microtubule cytoskeleton organization cytoplasm microtubule binding endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 GGAGCTGTTCCAGGTGATGCC 0.662000 3 12 0 0 1 0 0 TSPAN31 6302 broad.mit.edu 37 12 58139636 58139636 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr12:58139636C>T ENST00000547992.1 + 2 304 c.172C>T c.(172-174)Ctt>Ttt p.L58F TSPAN31_ENST00000257910.3_Missense_Mutation_p.L58F|TSPAN31_ENST00000547472.1_Intron|TSPAN31_ENST00000553221.1_3'UTR Q12999 TSN31_HUMAN tetraspanin 31 58 positive regulation of cell proliferation integral to plasma membrane|membrane fraction endometrium(1)|kidney(1)|lung(5) 7 all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294) CTTCCTTCTCCTTATTGCAGT 0.577000 54 39 0 0 1 0 0 DSC2 1824 broad.mit.edu 37 18 28659876 28659876 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr18:28659876C>T ENST00000280904.6 - 11 2043 c.1600G>A c.(1600-1602)Gat>Aat p.D534N DSC2_ENST00000251081.6_Missense_Mutation_p.D534N NM_024422.3 NP_077740.1 Q02487 DSC2_HUMAN desmocollin 2 534 Cadherin 4. homophilic cell adhesion desmosome|integral to membrane calcium ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1) 21 OV - Ovarian serous cystadenocarcinoma(10;0.0241) GCCTCTCTATCCAGGCTTCTG 0.368000 44 78 0 0 1 0 0 ZNF503 84858 broad.mit.edu 37 10 77158747 77158747 + Silent SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr10:77158747G>A ENST00000372524.4 - 2 2187 c.1701C>T c.(1699-1701)gcC>gcT p.A567A RP11-399K21.11_ENST00000418818.2_lincRNA|ZNF503_ENST00000535216.1_Silent_p.A567A NM_032772.4 NP_116161.2 Q96F45 ZN503_HUMAN zinc finger protein 503 567 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding lung(4)|ovary(1)|skin(1) 6 all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088) AAGCCATGGCGGCCGCGGCAG 0.701000 16 4 0 0 1 0 0 PARP14 54625 broad.mit.edu 37 3 122414467 122414467 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr3:122414467C>T ENST00000474629.2 + 5 1059 c.793C>T c.(793-795)Cct>Tct p.P265S NM_017554.2 NP_060024.2 Q460N5 PAR14_HUMAN poly (ADP-ribose) polymerase family, member 14 265 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane NAD+ ADP-ribosyltransferase activity NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(114;0.0531) TGAATATTTTCCTGAAGAGAG 0.373000 12 18 0 0 1 0 0 CEP164 22897 broad.mit.edu 37 11 117279608 117279608 + Silent SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr11:117279608C>T ENST00000278935.3 + 29 3759 c.3612C>T c.(3610-3612)gcC>gcT p.A1204A CEP164_ENST00000533706.1_3'UTR NM_014956.4 NP_055771.4 Q9UPV0 CE164_HUMAN centrosomal protein 164kDa 1204 cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis centriole|cytosol|nucleus breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3) 47 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008) CCCCACAGGCCTCAGATGAGG 0.522000 19 38 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578212 7578212 + Nonsense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr17:7578212G>A ENST00000420246.2 - 6 769 c.637C>T c.(637-639)Cga>Tga p.R213* TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 213 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) ACACTATGTCGAAAAGTGTTT 0.532000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 32 6 0 0 1 0 0 SLFN12L 100506736 broad.mit.edu 37 17 33802332 33802332 + Silent SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr17:33802332G>A ENST00000260908.7 - 4 1494 c.1377C>T c.(1375-1377)gtC>gtT p.V459V SLFN12L_ENST00000449046.1_Silent_p.V490V|SLFN12L_ENST00000361112.4_Silent_p.V488V NM_001195790.1 NP_001182719.1 Q6IEE8 SN12L_HUMAN schlafen family member 12-like 491 integral to membrane ATP binding breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1) 16 CATCACAGAGGACTTTGTGGT 0.448000 30 35 0 0 1 0 0 SPHKAP 80309 broad.mit.edu 37 2 228858281 228858281 + Nonsense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr2:228858281G>A ENST00000392056.3 - 9 4736 c.4690C>T c.(4690-4692)Cag>Tag p.Q1564* SPHKAP_ENST00000344657.5_Intron NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 1564 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) ATGCTTTCCTGATAAATGTCC 0.433000 9 10 0 0 1 0 0 PTPRD 5789 broad.mit.edu 37 9 8341825 8341825 + Silent SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr9:8341825G>A ENST00000381196.4 - 37 5358 c.4815C>T c.(4813-4815)atC>atT p.I1605I PTPRD_ENST00000397611.3_Silent_p.I1195I|PTPRD_ENST00000537002.1_Silent_p.I1195I|PTPRD_ENST00000540109.1_Silent_p.I1605I|PTPRD_ENST00000360074.4_Silent_p.I1592I|PTPRD_ENST00000486161.1_Silent_p.I1198I|PTPRD_ENST00000358503.5_Silent_p.I1583I|PTPRD_ENST00000356435.5_Silent_p.I1605I|PTPRD_ENST00000355233.5_Silent_p.I1199I|PTPRD_ENST00000397606.3_Silent_p.I1198I|PTPRD_ENST00000397617.3_Silent_p.I1198I NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1605 Tyrosine-protein phosphatase 1. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) GTGCATCATGGATAAAGATGT 0.388000 TSP Lung(15;0.13) 81 104 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9074350 9074350 + Missense_Mutation SNP A A T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr19:9074350A>T ENST00000397910.4 - 3 13299 c.13096T>A c.(13096-13098)Ttt>Att p.F4366I NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 4368 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 ACATCTGTAAATGTGTTGGTA 0.468000 34 11 0 0 1 0 0 MLF2 8079 broad.mit.edu 37 12 6858106 6858106 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr12:6858106G>A ENST00000203630.5 - 8 1246 c.602C>T c.(601-603)tCc>tTc p.S201F MLF2_ENST00000539187.1_Missense_Mutation_p.S201F|MLF2_ENST00000435120.1_Missense_Mutation_p.S201F|MLF2_ENST00000542154.1_Missense_Mutation_p.S201F Q15773 MLF2_HUMAN myeloid leukemia factor 2 201 defense response cytoplasm|nucleus protein binding kidney(2)|large_intestine(3)|lung(4) 9 CCGGAATCGGGAGGTCTCCCG 0.692000 9 11 0 0 1 0 0 FLG2 388698 broad.mit.edu 37 1 152325089 152325089 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr1:152325089C>T ENST00000388718.5 - 3 5245 c.5173G>A c.(5173-5175)Gga>Aga p.G1725R FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 1725 calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGGCCAGATCCCCTTCTTCCA 0.493000 148 309 0 0 1 0 0 TRANK1 9881 broad.mit.edu 37 3 36869822 36869822 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr3:36869822C>T ENST00000429976.2 - 23 8969 c.8722G>A c.(8722-8724)Ggt>Agt p.G2908S TRANK1_ENST00000428977.2_Missense_Mutation_p.G2358S|TRANK1_ENST00000301807.6_Missense_Mutation_p.G2358S O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 2908 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 CGAAGCTCACCAAAGTCTTCA 0.453000 7 11 0 0 1 0 0 RPAP1 26015 broad.mit.edu 37 15 41828393 41828393 + Silent SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr15:41828393G>A ENST00000304330.4 - 4 470 c.354C>T c.(352-354)gcC>gcT p.A118A RPAP1_ENST00000561603.1_Silent_p.A118A NM_015540.2 NP_056355.2 Q9BWH6 RPAP1_HUMAN RNA polymerase II associated protein 1 118 nucleus DNA binding|DNA-directed RNA polymerase activity NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 45 all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117) GCAGATTCACGGCCACTGAAC 0.537000 16 21 0 0 1 0 0 SECISBP2L 9728 broad.mit.edu 37 15 49327685 49327685 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr15:49327685G>A ENST00000559471.1 - 3 637 c.374C>T c.(373-375)cCt>cTt p.P125L SECISBP2L_ENST00000261847.3_Missense_Mutation_p.P125L NM_001193489.1 NP_001180418.1 Q93073 SBP2L_HUMAN SECIS binding protein 2-like 125 breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1) 46 TGTAGGAAAAGGATGATAGAA 0.463000 65 79 0 0 1 0 0 OR14I1 401994 broad.mit.edu 37 1 248844898 248844898 + Silent SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr1:248844898G>A ENST00000342623.3 - 1 731 c.708C>T c.(706-708)ttC>ttT p.F236F NM_001004734.1 NP_001004734.1 A6ND48 O14I1_HUMAN olfactory receptor, family 14, subfamily I, member 1 236 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 35 AGCAGGTGGAGAAGGCTTTTG 0.478000 61 71 0 0 1 0 0 RIMS2 9699 broad.mit.edu 37 8 105261746 105261746 + Silent SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr8:105261746G>A ENST00000507740.1 + 20 3299 c.3063G>A c.(3061-3063)aaG>aaA p.K1021K RIMS2_ENST00000262231.10_Silent_p.K1046K|RIMS2_ENST00000406091.3_Silent_p.K1207K|RIMS2_ENST00000339750.2_Silent_p.K143K|RIMS2_ENST00000436393.2_Silent_p.K1225K NM_014677.4 NP_055492.3 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 1269 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) TGGACAAAAAGGGACAGCTGG 0.403000 HNSCC(12;0.0054) 22 19 0 0 1 0 0 CACNA2D3 55799 broad.mit.edu 37 3 55107860 55107860 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr3:55107860G>A ENST00000474759.1 + 37 3205 c.3157G>A c.(3157-3159)Gaa>Aaa p.E1053K CACNA2D3_ENST00000478261.1_3'UTR|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.E959K|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.E1053K|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.E1053K NM_018398.2 NP_060868.2 Q8IZS8 CA2D3_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 3 1053 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3) 59 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) AAGGCGCCCAGAATCTTGTCA 0.438000 14 27 0 0 1 0 0 SLC44A5 204962 broad.mit.edu 37 1 75684215 75684215 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr1:75684215G>A ENST00000370855.5 - 17 1602 c.1489C>T c.(1489-1491)Cca>Tca p.P497S SLC44A5_ENST00000370859.3_Missense_Mutation_p.P497S|SLC44A5_ENST00000535611.1_Missense_Mutation_p.P367S NM_152697.4 NP_689910.2 Q8NCS7 CTL5_HUMAN solute carrier family 44, member 5 497 integral to membrane|plasma membrane choline transmembrane transporter activity kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 GGATATCGTGGGATGTCATCA 0.423000 94 114 0 0 1 0 0 AK7 122481 broad.mit.edu 37 14 96917848 96917848 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr14:96917848G>A ENST00000267584.4 + 10 1083 c.1039G>A c.(1039-1041)Gga>Aga p.G347R NM_152327.3 NP_689540.2 Q96M32 KAD7_HUMAN adenylate kinase 7 347 cell projection organization cytosol adenylate kinase activity|ATP binding|cytidylate kinase activity breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 31 all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155) Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228) TGCCCAAACAGGATTTGTGGA 0.393000 22 28 0 0 1 0 0 KCNC4 3749 broad.mit.edu 37 1 110754769 110754769 + Silent SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr1:110754769C>T ENST00000369787.3 + 1 675 c.648C>T c.(646-648)ttC>ttT p.F216F KCNC4_ENST00000412512.2_Intron|KCNC4_ENST00000438661.2_Silent_p.F216F|KCNC4_ENST00000413138.3_Silent_p.F216F NM_004978.4 NP_004969.2 Q03721 KCNC4_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 4 216 synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2) 32 all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135) GGGCGCTCTTCGAGGATCCCT 0.731000 8 5 0 0 1 0 0 TCAIM 285343 broad.mit.edu 37 3 44441989 44441989 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr3:44441989C>T ENST00000342649.4 + 9 1455 c.1028C>T c.(1027-1029)tCt>tTt p.S343F TCAIM_ENST00000417237.1_Missense_Mutation_p.S343F NM_173826.3 NP_776187.2 T cell activation inhibitor, mitochondrial GAATATTACTCTCTTCTTGAT 0.318000 23 46 0 0 1 0 0 SPEG 10290 broad.mit.edu 37 2 220312840 220312840 + Silent SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr2:220312840C>T ENST00000312358.7 + 4 1092 c.960C>T c.(958-960)tcC>tcT p.S320S SPEG_ENST00000396698.1_Silent_p.S216S|SPEG_ENST00000485813.1_3'UTR|SPEG_ENST00000396695.2_5'UTR NM_005876.4 NP_005867.3 Q15772 SPEG_HUMAN SPEG complex locus 320 Pro-rich. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) GGAAGCGGTCCCCGCCGGGAC 0.746000 17 7 0 0 1 0 0 C22orf42 150297 broad.mit.edu 37 22 32555079 32555079 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr22:32555079C>T ENST00000382097.3 - 1 196 c.124G>A c.(124-126)Gca>Aca p.A42T NM_001010859.1 NP_001010859.1 Q6IC83 CV042_HUMAN chromosome 22 open reading frame 42 42 NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2) 24 GTGGTGGATGCTGGTGCTGTG 0.577000 67 137 0 0 1 0 0 ZNF318 24149 broad.mit.edu 37 6 43316182 43316182 + Silent SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr6:43316182G>A ENST00000361428.2 - 6 3029 c.2952C>T c.(2950-2952)atC>atT p.I984I ZNF318_ENST00000318149.3_Silent_p.I984I NM_014345.2 NP_055160.2 Q5VUA4 ZN318_HUMAN zinc finger protein 318 984 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 61 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) ATTTATCGAAGATGTTAATTC 0.433000 100 141 0 0 1 0 0 MEPCE 56257 broad.mit.edu 37 7 100028454 100028454 + Missense_Mutation SNP G G C TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr7:100028454G>C ENST00000310512.2 + 1 1201 c.813G>C c.(811-813)caG>caC p.Q271H MEPCE_ENST00000414441.1_5'UTR NM_019606.5 NP_062552.2 Q7L2J0 MEPCE_HUMAN methylphosphate capping enzyme 271 methyltransferase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 24 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) AGCACCACCAGCAGCAGCAGG 0.647000 6 298 0 0 1 0 0 TET3 200424 broad.mit.edu 37 2 74320073 74320073 + Silent SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr2:74320073C>T ENST00000409262.3 + 6 2679 c.2679C>T c.(2677-2679)gtC>gtT p.V893V NM_144993.1 NP_659430.1 O43151 TET3_HUMAN tet methylcytosine dioxygenase 3 893 metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 CCACCGAAGTCGCTCCCCTGT 0.617000 7 2 0 0 1 0 0 PRDM2 7799 broad.mit.edu 37 1 14107381 14107381 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr1:14107381C>T ENST00000235372.7 + 8 3947 c.3091C>T c.(3091-3093)Ccc>Tcc p.P1031S PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.P1031S|PRDM2_ENST00000343137.4_Missense_Mutation_p.P830S|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.P830S NM_012231.4 NP_036363.2 Q13029 PRDM2_HUMAN PR domain containing 2, with ZNF domain 1031 Pro-rich. Golgi apparatus|nucleus DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 55 Ovarian(185;0.249) all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145) GTCCCCCTCTCCCTCTCCCAT 0.592000 45 61 0 0 1 0 0 GLIS1 148979 broad.mit.edu 37 1 53995593 53995593 + Silent SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr1:53995593C>T ENST00000312233.2 - 4 1394 c.828G>A c.(826-828)ctG>ctA p.L276L NM_147193.2 NP_671726.2 Q8NBF1 GLIS1_HUMAN GLIS family zinc finger 1 276 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4) 24 TGAGGTTCTCCAGCCGTGAGA 0.632000 27 44 0 0 1 0 0 PANK4 55229 broad.mit.edu 37 1 2452566 2452566 + Silent SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr1:2452566G>A ENST00000378466.3 - 3 408 c.396C>T c.(394-396)gaC>gaT p.D132D PANK4_ENST00000435556.3_Intron NM_018216.1 NP_060686.1 Q9NVE7 PANK4_HUMAN pantothenate kinase 4 132 coenzyme A biosynthetic process cytoplasm ATP binding|pantothenate kinase activity breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4) 23 all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201) CTTCGATGAGGTCTTTGAACT 0.587000 47 73 0 0 1 0 0 SLC27A6 28965 broad.mit.edu 37 5 128365303 128365303 + Missense_Mutation SNP T T C TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr5:128365303T>C ENST00000262462.4 + 9 2596 c.1586T>C c.(1585-1587)aTt>aCt p.I529T SLC27A6_ENST00000506176.1_Missense_Mutation_p.I529T|SLC27A6_ENST00000395266.1_Missense_Mutation_p.I529T Q9Y2P4 S27A6_HUMAN solute carrier family 27 (fatty acid transporter), member 6 529 long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process integral to membrane|sarcolemma fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1) 44 all_cancers(142;0.0483)|Prostate(80;0.055) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186) GCTTCTATTATTTTAAAACCA 0.284000 10 4 0 0 1 0 0 TENM2 57451 broad.mit.edu 37 5 167689679 167689679 + Missense_Mutation SNP A A G TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr5:167689679A>G ENST00000519204.1 + 28 7944 c.7826A>G c.(7825-7827)aAg>aGg p.K2609R TENM2_ENST00000403607.2_Missense_Mutation_p.K2554R|TENM2_ENST00000520394.1_Missense_Mutation_p.K2491R|TENM2_ENST00000545108.1_Missense_Mutation_p.K2729R|TENM2_ENST00000518659.1_Missense_Mutation_p.K2730R teneurin transmembrane protein 2 GAGGGCGAGAAGCAGCAGCTT 0.637000 7 0 0 0 1 0 0 SCN5A 6331 broad.mit.edu 37 3 38592772 38592772 + Silent SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr3:38592772G>A ENST00000413689.1 - 28 5284 c.5091C>T c.(5089-5091)ttC>ttT p.F1697F SCN5A_ENST00000455624.2_Silent_p.F1664F|SCN5A_ENST00000451551.2_Silent_p.F1643F|SCN5A_ENST00000333535.4_Silent_p.F1697F|SCN5A_ENST00000450102.2_Silent_p.F1643F|SCN5A_ENST00000449557.2_Silent_p.F1643F|SCN5A_ENST00000443581.1_Silent_p.F1696F|SCN5A_ENST00000425664.1_Silent_p.F1679F|SCN5A_ENST00000423572.2_Silent_p.F1696F|SCN5A_ENST00000414099.2_Silent_p.F1679F NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 1697 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) TGCTGTTGGCGAAGGTCTGGA 0.577000 82 153 0 0 1 0 0 SLC14A2 8170 broad.mit.edu 37 18 43212418 43212418 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr18:43212418C>T ENST00000255226.6 + 5 1441 c.625C>T c.(625-627)Cct>Tct p.P209S SLC14A2_ENST00000586448.1_Missense_Mutation_p.P209S NM_007163.3 NP_009094.3 Q15849 UT2_HUMAN solute carrier family 14 (urea transporter), member 2 209 apical plasma membrane|integral to membrane|membrane fraction protein binding|urea transmembrane transporter activity NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 GCTTCTGTTTCCTGTGACCTT 0.542000 51 100 0 0 1 0 0 ZBTB12 221527 broad.mit.edu 37 6 31868434 31868434 + Silent SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr6:31868434G>A ENST00000375527.2 - 2 824 c.649C>T c.(649-651)Ctg>Ttg p.L217L C2_ENST00000469372.1_Intron NM_181842.2 NP_862825.1 Q9Y330 ZBT12_HUMAN zinc finger and BTB domain containing 12 217 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(1)|lung(5)|prostate(1)|skin(1) 10 GCCACCTCCAGGGCCGACTCC 0.627000 70 192 0 0 1 0 0 TCTE1 202500 broad.mit.edu 37 6 44254094 44254094 + Nonsense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr6:44254094C>T ENST00000371505.4 - 3 575 c.453G>A c.(451-453)tgG>tgA p.W151* TCTE1_ENST00000371503.3_5'UTR|TMEM151B_ENST00000438774.2_Intron NM_182539.3 NP_872345.2 Q5JU00 TCTE1_HUMAN t-complex-associated-testis-expressed 1 151 breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) ACATGCGTTTCCAGCTGCCGC 0.617000 43 53 0 0 1 0 0 IGLV3-22 28795 broad.mit.edu 37 22 23047216 23047216 + RNA SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr22:23047216C>T ENST00000390307.2 + 0 318 GGGTCCACCTCAGGGAACACG 0.557000 31 49 0 0 1 0 0 ADAMTS9 56999 broad.mit.edu 37 3 64587752 64587752 + Silent SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr3:64587752G>A ENST00000498707.1 - 26 4227 c.3885C>T c.(3883-3885)tgC>tgT p.C1295C ADAMTS9_ENST00000295903.4_Silent_p.C1267C NM_182920.1 NP_891550.1 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 9 1295 TSP type-1 8. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding 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) TCCTTTGAGGGCATGGTGACA 0.557000 67 84 0 0 1 0 0 SYCP2L 221711 broad.mit.edu 37 6 10924775 10924775 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr6:10924775G>A ENST00000283141.6 + 15 1415 c.1119G>A c.(1117-1119)atG>atA p.M373I SYCP2L_ENST00000543878.1_Missense_Mutation_p.M214I|RP11-637O19.3_ENST00000480294.1_3'UTR NM_001040274.2 NP_001035364.2 Q5T4T6 SYC2L_HUMAN synaptonemal complex protein 2-like 373 nucleus breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 36 Breast(50;0.0838)|Ovarian(93;0.107) all_hematologic(90;0.135) Epithelial(50;0.239) AGAAGCCCATGATTATCAGCT 0.313000 19 47 0 0 1 0 0 FAM111A 63901 broad.mit.edu 37 11 58920169 58920169 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr11:58920169C>T ENST00000528737.1 + 5 3846 c.1028C>T c.(1027-1029)tCg>tTg p.S343L FAM111A_ENST00000531147.1_Missense_Mutation_p.S343L|FAM111A_ENST00000420244.1_Missense_Mutation_p.S343L|FAM111A_ENST00000361723.3_Missense_Mutation_p.S343L|FAM111A_ENST00000533703.1_Missense_Mutation_p.S343L Q96PZ2 F111A_HUMAN family with sequence similarity 111, member A 343 proteolysis serine-type endopeptidase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_epithelial(135;0.139) AATTCTTCTTCGATTAAAGTA 0.343000 25 47 0 0 1 0 0 EMID1 129080 broad.mit.edu 37 22 29628339 29628339 + Silent SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr22:29628339C>T ENST00000334018.6 + 8 959 c.771C>T c.(769-771)ccC>ccT p.P257P EMID1_ENST00000404755.3_Silent_p.P257P|EMID1_ENST00000404820.3_Silent_p.P257P|EMID1_ENST00000484039.1_3'UTR NM_001267895.1|NM_133455.3 NP_001254824.1|NP_597712.2 Q96A84 EMID1_HUMAN EMI domain containing 1 255 Collagen-like. collagen NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3) 12 CTCCTGGCCCCCCTGGGCCCC 0.731000 16 18 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11592945 11592945 + Missense_Mutation SNP A A C TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr17:11592945A>C ENST00000262442.3 + 20 3874 c.3806A>C c.(3805-3807)gAa>gCa p.E1269A DNAH9_ENST00000454412.2_Missense_Mutation_p.E1269A NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 1269 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) CAGCAGATGGAATCCACTATG 0.493000 50 63 0 0 1 0 0 LPXN 9404 broad.mit.edu 37 11 58317506 58317506 + Silent SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr11:58317506G>A ENST00000528954.1 - 6 734 c.615C>T c.(613-615)ccC>ccT p.P205P LPXN_ENST00000395074.2_Silent_p.P200P|LPXN_ENST00000528489.1_Silent_p.P180P NM_001143995.1 NP_001137467.1 O60711 LPXN_HUMAN leupaxin 200 LIM zinc-binding 1. cell adhesion|protein complex assembly|signal transduction cytoplasm zinc ion binding p.P200P(1)|p.P205P(1) NS(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24) GGTAGTCGTTGGGGCAGTAGG 0.512000 98 136 0 0 1 0 0 OR2J2 26707 broad.mit.edu 37 6 29141737 29141737 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr6:29141737G>A ENST00000377167.2 + 1 427 c.325G>A c.(325-327)Gga>Aga p.G109R NM_030905.2 NP_112167.2 O76002 OR2J2_HUMAN olfactory receptor, family 2, subfamily J, member 2 109 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1) 25 TCTTGCACTGGGAATCACAGA 0.488000 111 267 0 0 1 0 0 WDR6 11180 broad.mit.edu 37 3 49050929 49050929 + Silent SNP T T G TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr3:49050929T>G ENST00000395474.3 + 2 2332 c.2052T>G c.(2050-2052)ggT>ggG p.G684G WDR6_ENST00000415265.2_Silent_p.G102G|WDR6_ENST00000448293.1_Silent_p.G603G NM_018031.3 NP_060501.3 Q9NNW5 WDR6_HUMAN WD repeat domain 6 654 cell cycle arrest|negative regulation of cell proliferation cytoplasm breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155) TCAACTGTGGTGGAGGGCACC 0.562000 OREG0015565 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 37 37 0 0 1 0 0 MATN4 8785 broad.mit.edu 37 20 43926645 43926645 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr20:43926645C>T ENST00000537548.1 - 9 1736 c.1492G>A c.(1492-1494)Gag>Aag p.E498K MATN4_ENST00000372753.1_Missense_Mutation_p.E349K|MATN4_ENST00000353917.5_Missense_Mutation_p.E416K|MATN4_ENST00000372751.4_Missense_Mutation_p.E349K|MATN4_ENST00000372756.1_Missense_Mutation_p.E498K|MATN4_ENST00000342716.4_Missense_Mutation_p.E498K|MATN4_ENST00000372754.1_Missense_Mutation_p.E539K|MATN4_ENST00000360607.5_Missense_Mutation_p.E457K O95460 MATN4_HUMAN matrilin 4 539 VWFA 2. extracellular region protein binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 Myeloproliferative disorder(115;0.0122) TCCGCTGGCTCCGAGGCGATC 0.672000 24 57 0 0 1 0 0 SEL1L3 23231 broad.mit.edu 37 4 25784008 25784008 + Nonsense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr4:25784008C>T ENST00000399878.3 - 15 2435 c.2313G>A c.(2311-2313)tgG>tgA p.W771* SEL1L3_ENST00000502949.1_Nonsense_Mutation_p.W618*|SEL1L3_ENST00000264868.5_Nonsense_Mutation_p.W736* NM_015187.3 NP_056002.2 Q68CR1 SE1L3_HUMAN sel-1 suppressor of lin-12-like 3 (C. elegans) 771 integral to membrane binding breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2) 14 TGTGGTAATACCATCCCAGGC 0.393000 35 43 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179454435 179454435 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr2:179454435C>T ENST00000589042.1 - 304 62241 c.62017G>A c.(62017-62019)Gaa>Aaa p.E20673K TTN_ENST00000342175.6_Missense_Mutation_p.E11800K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E11733K|TTN_ENST00000591111.1_Missense_Mutation_p.E19032K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E11608K|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E18105K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 19032 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) TGAAGGTTTTCAGGCTCACCT 0.433000 97 79 0 0 1 0 0 GPRC5B 51704 broad.mit.edu 37 16 19883961 19883961 + Silent SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr16:19883961G>A ENST00000300571.2 - 2 398 c.207C>T c.(205-207)atC>atT p.I69I GPRC5B_ENST00000569479.1_Silent_p.I69I|GPRC5B_ENST00000569847.1_Silent_p.I69I|GPRC5B_ENST00000537135.1_Silent_p.I95I|GPRC5B_ENST00000535671.1_Silent_p.I69I NM_016235.1 NP_057319.1 Q9NZH0 GPC5B_HUMAN G protein-coupled receptor, family C, group 5, member B 69 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 GGAGCAGTGTGATCAGGGCGC 0.642000 33 44 0 0 1 0 0 CLEC4D 338339 broad.mit.edu 37 12 8667851 8667851 + Silent SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr12:8667851C>T ENST00000299665.2 + 2 241 c.48C>T c.(46-48)ccC>ccT p.P16P NM_080387.4 NP_525126.2 Q8WXI8 CLC4D_HUMAN C-type lectin domain family 4, member D 16 innate immune response integral to membrane sugar binding large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 14 Lung SC(5;0.184) GCATGCATCCCCAGCTGATAC 0.398000 33 38 0 0 1 0 0 DPEP3 64180 broad.mit.edu 37 16 68010058 68010058 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr16:68010058C>T ENST00000268793.4 - 9 1616 c.1243G>A c.(1243-1245)Gag>Aag p.E415K NM_001129758.1|NM_022357.3 NP_001123230.1|NP_071752.3 Q9H4B8 DPEP3_HUMAN dipeptidase 3 390 meiosis anchored to membrane dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2) 20 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236) AGCTCTTCCTCGCTCCAGCTA 0.567000 100 116 0 0 1 0 0 KIAA1217 56243 broad.mit.edu 37 10 24822089 24822089 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr10:24822089C>T ENST00000376451.2 + 11 2646 c.2386C>T c.(2386-2388)Ccg>Tcg p.P796S KIAA1217_ENST00000307544.6_Missense_Mutation_p.P796S|KIAA1217_ENST00000376454.3_Missense_Mutation_p.P1113S|KIAA1217_ENST00000396445.1_Missense_Mutation_p.P796S|KIAA1217_ENST00000376462.1_Missense_Mutation_p.P1033S|KIAA1217_ENST00000396446.1_Missense_Mutation_p.P796S|KIAA1217_ENST00000376452.3_Missense_Mutation_p.P1077S|KIAA1217_ENST00000458595.1_Missense_Mutation_p.P1078S Q5T5P2 SKT_HUMAN KIAA1217 1113 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 CCCATCCCCACCGCCTGTCAC 0.532000 26 10 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7696104 7696104 + Silent SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr17:7696104C>T ENST00000572933.1 + 47 8735 c.7275C>T c.(7273-7275)atC>atT p.I2425I DNAH2_ENST00000389173.2_Silent_p.I2425I Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 2425 AAA 3 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) AGACCTCCATCGCCCAGAGCG 0.632000 35 7 0 0 1 0 0 RLF 6018 broad.mit.edu 37 1 40627186 40627186 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr1:40627186C>T ENST00000372771.4 + 1 142 c.115C>T c.(115-117)Ccc>Tcc p.P39S NM_012421.3 NP_036553.2 Q13129 RLF_HUMAN rearranged L-myc fusion 39 chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2) 68 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461) GGGTCATCGCCCCGTATCTCC 0.677000 16 27 0 0 1 0 0 FRY 10129 broad.mit.edu 37 13 32823810 32823810 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr13:32823810C>T ENST00000380250.3 + 49 7652 c.7156C>T c.(7156-7158)Ccc>Tcc p.P2386S NM_023037.2 NP_075463.2 Q5TBA9 FRY_HUMAN furry homolog (Drosophila) 2386 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) CTGGAAAAGGCCCCAGTATTC 0.567000 4 50 0 0 1 0 0 OR2G3 81469 broad.mit.edu 37 1 247769773 247769773 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr1:247769773G>A ENST00000320002.2 + 1 918 c.886G>A c.(886-888)Gat>Aat p.D296N RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA NM_001001914.1 NP_001001914.1 Q8NGZ4 OR2G3_HUMAN olfactory receptor, family 2, subfamily G, member 3 296 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5) 50 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) AAGGAACAAGGATATGAAAGA 0.418000 45 61 0 0 1 0 0 SPTB 6710 broad.mit.edu 37 14 65234457 65234457 + Missense_Mutation SNP A A C TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr14:65234457A>C ENST00000389722.3 - 29 6196 c.6143T>G c.(6142-6144)aTc>aGc p.I2048S SPTB_ENST00000542895.1_Missense_Mutation_p.I2048S|SPTB_ENST00000389720.3_Missense_Mutation_p.I2048S|SPTB_ENST00000389721.5_Missense_Mutation_p.I2048S|SPTB_ENST00000556626.1_Missense_Mutation_p.I2048S NM_001024858.2 NP_001020029.1 P11277 SPTB1_HUMAN spectrin, beta, erythrocytic 2048 actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) ATGCCTCTTGATGAGCTTCTC 0.617000 53 75 0 0 1 0 0 ROR2 4920 broad.mit.edu 37 9 94486956 94486956 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr9:94486956G>A ENST00000375708.3 - 9 2018 c.1820C>T c.(1819-1821)tCc>tTc p.S607F ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Missense_Mutation_p.S467F NM_004560.3 NP_004551.2 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 607 Protein kinase. negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 GTGGTGGCTGGATAGGTACTC 0.612000 33 37 0 0 1 0 0 SRSF12 135295 broad.mit.edu 37 6 89814845 89814845 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr6:89814845G>A ENST00000452027.2 - 4 602 c.409C>T c.(409-411)Ctt>Ttt p.L137F NM_080743.4 NP_542781.3 Q8WXF0 SRS12_HUMAN serine/arginine-rich splicing factor 12 137 Arg/Ser-rich (RS domain). assembly of spliceosomal tri-snRNP|cytoplasmic transport|negative regulation of nuclear mRNA splicing, via spliceosome|nuclear mRNA 5'-splice site recognition|regulation of alternative nuclear mRNA splicing, via spliceosome nucleoplasm nucleotide binding|RNA binding|RS domain binding|unfolded protein binding autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4) 8 CACTCTTTAAGGCTGTCTGAC 0.403000 7 16 0 0 1 0 0 LOC728715 728715 broad.mit.edu 37 12 9717819 9717819 + RNA SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr12:9717819C>T ENST00000520314.1 + 0 4248 CCGGAAAATTCCTGACCTCAC 0.478000 18 5 0 0 1 0 0 SCAND3 114821 broad.mit.edu 37 6 28543030 28543030 + Silent SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr6:28543030G>A ENST00000452236.2 - 3 2069 c.1452C>T c.(1450-1452)ttC>ttT p.F484F NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 484 Integrase catalytic. 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 GCATCCAGGAGAAAATCCTCT 0.428000 39 90 0 0 1 0 0 LRRC4B 94030 broad.mit.edu 37 19 51022222 51022222 + Nonsense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr19:51022222G>A ENST00000599957.1 - 3 945 c.748C>T c.(748-750)Cag>Tag p.Q250* LRRC4B_ENST00000389201.3_Nonsense_Mutation_p.Q250* Q9NT99 LRC4B_HUMAN leucine rich repeat containing 4B 250 cell junction|integral to membrane|presynaptic membrane breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1) 30 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188) GTGAGACCCTGGAAGGAGCCC 0.657000 22 38 0 0 1 0 0 FGF8 2253 broad.mit.edu 37 10 103531316 103531316 + Silent SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr10:103531316G>A ENST00000347978.2 - 4 430 c.261C>T c.(259-261)atC>atT p.I87I FGF8_ENST00000485728.1_5'UTR|FGF8_ENST00000320185.2_Silent_p.I116I|FGF8_ENST00000344255.3_Silent_p.I105I|FGF8_ENST00000346714.3_Silent_p.I76I NM_006119.4 NP_006110.1 P55075 FGF8_HUMAN fibroblast growth factor 8 (androgen-induced) 105 bone development|dopaminergic neuron differentiation|fibroblast growth factor receptor signaling pathway|gastrulation|gonad development|insulin receptor signaling pathway|mesonephros development|metanephros development|negative regulation of cardiac muscle tissue development|neuroepithelial cell differentiation|odontogenesis|positive regulation of cell division|positive regulation of cell proliferation extracellular region|extracellular space growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(2) 5 Colorectal(252;0.122) Epithelial(162;3.94e-09)|all cancers(201;2.13e-07) CCGTCTCCACGATGAGCTTTG 0.567000 22 13 0 0 1 0 0 PRX 57716 broad.mit.edu 37 19 40900204 40900204 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr19:40900204G>A ENST00000324001.7 - 7 4325 c.4055C>T c.(4054-4056)cCc>cTc p.P1352L PRX_ENST00000291825.7_3'UTR NM_181882.2 NP_870998.2 Q9BXM0 PRAX_HUMAN periaxin 1352 axon ensheathment cytoplasm|nucleus|plasma membrane protein binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9) 47 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) ctcctcctcGGGGCTGGGGGA 0.706000 10 22 0 0 1 0 0 ZNF253 56242 broad.mit.edu 37 19 20003224 20003224 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr19:20003224C>T ENST00000589717.1 + 4 1260 c.1168C>T c.(1168-1170)Cat>Tat p.H390Y ZNF253_ENST00000355650.4_Missense_Mutation_p.H314Y NM_021047.2 NP_066385.2 O75346 ZN253_HUMAN zinc finger protein 253 390 Missing (in Ref. 1; AAC26844). negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TGAGAAAATTCATACTGGAGA 0.393000 32 6 0 0 1 0 0 NFATC1 4772 broad.mit.edu 37 18 77171113 77171113 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr18:77171113C>T ENST00000253506.5 + 2 1207 c.838C>T c.(838-840)Cac>Tac p.H280Y NFATC1_ENST00000427363.2_Missense_Mutation_p.H280Y|NFATC1_ENST00000542384.1_Missense_Mutation_p.H280Y|NFATC1_ENST00000592223.1_Missense_Mutation_p.H267Y|NFATC1_ENST00000591814.1_Missense_Mutation_p.H280Y|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000318065.5_Missense_Mutation_p.H267Y|NFATC1_ENST00000329101.4_Missense_Mutation_p.H267Y|NFATC1_ENST00000586434.1_Missense_Mutation_p.H267Y|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000587635.1_Missense_Mutation_p.H280Y NM_006162.3 NP_006153.2 O95644 NFAC1_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 280 3 X SP repeats. intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1) 40 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257) CTACTCACCCCACCACTCGCC 0.687000 37 34 0 0 1 0 0 OTOA 146183 broad.mit.edu 37 16 21737921 21737921 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr16:21737921C>T ENST00000388958.3 + 18 1959 c.1958C>T c.(1957-1959)tCc>tTc p.S653F OTOA_ENST00000388956.4_Missense_Mutation_p.S574F|OTOA_ENST00000286149.4_Missense_Mutation_p.S667F|OTOA_ENST00000388957.3_Missense_Mutation_p.S329F NM_144672.3 NP_653273.3 Q7RTW8 OTOAN_HUMAN otoancorin 667 sensory perception of sound anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1) 46 GBM - Glioblastoma multiforme(48;0.0414) TGGTTGGACTCCTTGGTTTTA 0.547000 67 72 0 0 1 0 0 MCM2 4171 broad.mit.edu 37 3 127340026 127340026 + Silent SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr3:127340026C>T ENST00000265056.7 + 15 2803 c.2559C>T c.(2557-2559)gcC>gcT p.A853A MCM2_ENST00000468414.1_3'UTR NM_004526.2 NP_004517.2 P49736 MCM2_HUMAN minichromosome maintenance complex component 2 853 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle chromatin|MCM complex ATP binding|helicase activity|metal ion binding ovary(3)|skin(2)|stomach(1) 6 GCTTTGGGGCCCAGCAGGACA 0.552000 51 52 0 0 1 0 0 ARFGEF1 10565 broad.mit.edu 37 8 68170405 68170405 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr8:68170405C>T ENST00000262215.3 - 16 2745 c.2356G>A c.(2356-2358)Gaa>Aaa p.E786K ARFGEF1_ENST00000520381.1_Missense_Mutation_p.E240K NM_006421.4 NP_006412.2 Q9Y6D6 BIG1_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) 786 SEC7. exocytosis|regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity|myosin binding breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206) CGAAATCCTTCTAGAAACATA 0.378000 14 24 0 0 1 0 0 B3GAT1 27087 broad.mit.edu 37 11 134252878 134252878 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr11:134252878G>A ENST00000524765.1 - 4 5188 c.644C>T c.(643-645)tCc>tTc p.S215F B3GAT1_ENST00000537389.1_Missense_Mutation_p.S228F|B3GAT1_ENST00000312527.4_Missense_Mutation_p.S215F|B3GAT1_ENST00000392580.1_Missense_Mutation_p.S215F Q9P2W7 B3GA1_HUMAN beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P) 215 carbohydrate metabolic process Golgi membrane|integral to membrane galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 19 all_hematologic(175;0.127) all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559) Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864) GGGCCACACGGACACCCTCCT 0.697000 6 7 0 0 1 0 0 PSG9 5678 broad.mit.edu 37 19 43763263 43763263 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr19:43763263G>A ENST00000418820.2 - 3 553 c.455C>T c.(454-456)aCc>aTc p.T152I PSG9_ENST00000593948.1_Intron|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000270077.3_Missense_Mutation_p.T245I|PSG9_ENST00000244293.7_Intron|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000443718.3_Missense_Mutation_p.T152I Q00887 PSG9_HUMAN pregnancy specific beta-1-glycoprotein 9 152 Ig-like C2-type 1. female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Prostate(69;0.00682) GTTGTTGATGGTGATGTAGGG 0.473000 120 176 0 0 1 0 0 SLC44A1 23446 broad.mit.edu 37 9 108097886 108097886 + Silent SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr9:108097886C>T ENST00000374720.3 + 4 559 c.312C>T c.(310-312)aaC>aaT p.N104N SLC44A1_ENST00000374723.1_Silent_p.N104N|SLC44A1_ENST00000374724.1_Silent_p.N104N NM_080546.3 NP_536856.2 Q8WWI5 CTL1_HUMAN solute carrier family 44 (choline transporter), member 1 104 integral to membrane|mitochondrial outer membrane|plasma membrane choline transmembrane transporter activity breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 38 Choline(DB00122) ACTTGATAAACCGGAAGATTA 0.408000 45 90 0 0 1 0 0 BCLAF1 9774 broad.mit.edu 37 6 136597494 136597494 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr6:136597494C>T ENST00000531224.1 - 5 1421 c.1169G>A c.(1168-1170)gGa>gAa p.G390E BCLAF1_ENST00000353331.4_Missense_Mutation_p.G388E|BCLAF1_ENST00000527759.1_Missense_Mutation_p.G388E|BCLAF1_ENST00000392348.2_Missense_Mutation_p.G388E|BCLAF1_ENST00000527536.1_Missense_Mutation_p.G390E|BCLAF1_ENST00000530767.1_Intron NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 390 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) CTTTTGTTTTCCAGACTCTTT 0.423000 90 278 0 0 1 0 0 PSAT1 29968 broad.mit.edu 37 9 80932643 80932643 + Silent SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr9:80932643C>T ENST00000376588.3 + 7 860 c.792C>T c.(790-792)gcC>gcT p.A264A PSAT1_ENST00000347159.2_Silent_p.A264A NM_058179.2 NP_478059.1 Q9Y617 SERC_HUMAN phosphoserine aminotransferase 1 264 L-serine biosynthetic process|pyridoxine biosynthetic process O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1) 20 L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165) ATGGAGGTGCCGCGGCCATGG 0.373000 72 66 0 0 1 0 0 TMC8 147138 broad.mit.edu 37 17 76136987 76136987 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr17:76136987C>T ENST00000318430.5 + 16 2349 c.1975C>T c.(1975-1977)Ccg>Tcg p.P659S TMC8_ENST00000591144.1_3'UTR|TMC8_ENST00000589691.1_Missense_Mutation_p.P436S NM_152468.4 NP_689681.2 Q8IU68 TMC8_HUMAN transmembrane channel-like 8 659 endoplasmic reticulum membrane|integral to membrane breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 12 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192) GAGCGACTCTCCGGGCCCCAA 0.706000 9 11 0 0 1 0 0 TRAV19 28664 broad.mit.edu 37 14 22476271 22476271 + RNA SNP C C T rs140297772 by1000genomes TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr14:22476271C>T ENST00000390447.3 + 0 318 AATTGGTTTTCCTTATTCGTC 0.418000 16 13 0 0 1 0 0 TSPAN10 83882 broad.mit.edu 37 17 79612584 79612584 + RNA SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr17:79612584C>T ENST00000328585.4 + 0 693 TSPAN10_ENST00000572675.1_RNA NM_031945.3 NP_114151.3 Q9H1Z9 TSN10_HUMAN tetraspanin 10 integral to membrane ovary(1) 1 all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739) ACCTGCGCTTCCTCCTCGACC 0.677000 11 22 0 0 1 0 0 AIFM1 9131 broad.mit.edu 37 X 129270669 129270669 + Silent SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chrX:129270669G>A ENST00000287295.3 - 11 1343 c.1113C>T c.(1111-1113)tcC>tcT p.S371S AIFM1_ENST00000535724.1_3'UTR|AIFM1_ENST00000319908.3_Silent_p.S367S|AIFM1_ENST00000346424.2_Silent_p.S84S|AIFM1_ENST00000440263.1_Silent_p.S19S|AIFM1_ENST00000460436.2_Silent_p.S32S NM_001130847.3|NM_004208.3 NP_001124319.1|NP_004199.1 O95831 AIFM1_HUMAN apoptosis-inducing factor, mitochondrion-associated, 1 371 FAD-dependent oxidoreductase (By similarity). activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1) 30 TGACTCCAACGGATTGCACAA 0.483000 39 57 0 0 1 0 0 ZNF383 163087 broad.mit.edu 37 19 37734148 37734148 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr19:37734148C>T ENST00000589413.1 + 8 1593 c.1010C>T c.(1009-1011)cCc>cTc p.P337L ZNF383_ENST00000352998.3_Missense_Mutation_p.P337L|ZNF383_ENST00000590503.1_Missense_Mutation_p.P337L Q8NA42 ZN383_HUMAN zinc finger protein 383 337 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1) 15 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GGTGAGAAACCCTATGAGTGC 0.423000 56 86 0 0 1 0 0 TBC1D7 51256 broad.mit.edu 37 6 13321193 13321193 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr6:13321193G>A ENST00000607658.1 - 3 397 c.247C>T c.(247-249)Cgc>Tgc p.R83C TBC1D7_ENST00000379307.2_Missense_Mutation_p.R83C|TBC1D7_ENST00000356436.4_Missense_Mutation_p.R110C|TBC1D7_ENST00000607532.1_5'UTR|TBC1D7_ENST00000343141.4_Missense_Mutation_p.R110C|TBC1D7_ENST00000379300.3_Missense_Mutation_p.R110C Q9P0N9 TBCD7_HUMAN TBC1 domain family, member 7 110 Rab-GAP TBC. positive regulation of protein ubiquitination cytoplasmic membrane-bounded vesicle protein binding|Rab GTPase activator activity p.R110C(2)|p.R110S(1) breast(1)|endometrium(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1) 22 Breast(50;0.0296)|Ovarian(93;0.0339) all_hematologic(90;0.135) Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21) TGATACATGCGGAGATAGACT 0.488000 104 248 0 0 1 0 0 TRIO 7204 broad.mit.edu 37 5 14420124 14420124 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr5:14420124C>T ENST00000344204.4 + 34 5221 c.5197C>T c.(5197-5199)Cac>Tac p.H1733Y TRIO_ENST00000537187.1_Missense_Mutation_p.H1733Y NM_007118.2 NP_009049.2 O75962 TRIO_HUMAN trio Rho guanine nucleotide exchange factor 1733 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) CATCTTCAACCACAAAGGTAG 0.592000 21 59 0 0 1 0 0 CCKBR 887 broad.mit.edu 37 11 6292136 6292136 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr11:6292136G>A ENST00000525462.1 + 4 917 c.914G>A c.(913-915)aGg>aAg p.R305K CCKBR_ENST00000334619.2_Intron|CCKBR_ENST00000532396.1_Intron|CCKBR_ENST00000532715.1_Intron P32239 GASR_HUMAN cholecystokinin B receptor 265 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception 1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 61 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139) Pentagastrin(DB00183) AGGGTGAGAAGGAAGCTGGAA 0.627000 15 12 0 0 1 0 0 GPR141 353345 broad.mit.edu 37 7 37780115 37780115 + Silent SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr7:37780115C>T ENST00000447769.1 + 4 409 c.120C>T c.(118-120)ttC>ttT p.F40F GPR141_ENST00000461610.1_Intron|EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000334425.1_Silent_p.F40F Q7Z602 GP141_HUMAN G protein-coupled receptor 141 40 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 CCATTCTTTTCCTCCTGGTGA 0.498000 84 64 0 0 1 0 0 OR10G9 219870 broad.mit.edu 37 11 123894601 123894601 + Silent SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr11:123894601G>A ENST00000375024.1 + 1 882 c.882G>A c.(880-882)gtG>gtA p.V294V NM_001001953.1 NP_001001953.1 Q8NGN4 O10G9_HUMAN olfactory receptor, family 10, subfamily G, member 9 294 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1) 61 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) ACAAGGAGGTGAAGAAAGCTG 0.428000 44 83 0 0 1 0 0 COL5A1 1289 broad.mit.edu 37 9 137623401 137623401 + Silent SNP G G A rs139406076 TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr9:137623401G>A ENST00000371817.3 + 8 1638 c.1224G>A c.(1222-1224)acG>acA p.T408T NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 408 Nonhelical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) CTGAGGAAACGATCCGGAACC 0.627000 36 48 0 0 1 0 0 GRIA2 2891 broad.mit.edu 37 4 158256830 158256830 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr4:158256830C>T ENST00000296526.7 + 10 1599 c.1274C>T c.(1273-1275)cCg>cTg p.P425L GRIA2_ENST00000507898.1_Missense_Mutation_p.P378L|GRIA2_ENST00000264426.9_Missense_Mutation_p.P425L|GRIA2_ENST00000393815.2_Missense_Mutation_p.P378L|GRIA2_ENST00000449365.1_Missense_Mutation_p.P378L NM_000826.3 NP_000817.2 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 425 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) TAGGAATCTCCGTATGTTATG 0.363000 13 12 0 0 1 0 0 CNTRL 11064 broad.mit.edu 37 9 123904428 123904428 + Silent SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr9:123904428C>T ENST00000373855.1 + 19 3011 c.2751C>T c.(2749-2751)caC>caT p.H917H CNTRL_ENST00000373847.1_Silent_p.H365H|CNTRL_ENST00000238341.5_Silent_p.H917H|CNTRL_ENST00000373850.1_Silent_p.H365H Q7Z7A1 CNTRL_HUMAN centriolin 917 cell division|G2/M transition of mitotic cell cycle centrosome|cytosol protein binding haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3) 20 ATGAAATTCACTATTTGCAAG 0.363000 16 25 0 0 1 0 0 ABCC1 4363 broad.mit.edu 37 16 16180682 16180682 + Splice_Site SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr16:16180682G>A ENST00000399408.2 + 18 2469 c.2292_splice c.e18-1 p.G765_splice ABCC1_ENST00000345148.5_Splice_Site_p.G765_splice|ABCC1_ENST00000349029.5_Intron|ABCC1_ENST00000346370.5_Intron|ABCC1_ENST00000399410.3_Splice_Site_p.G765_splice|ABCC1_ENST00000351154.5_Splice_Site_p.G706_splice P33527 MRP1_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 1 765 ABC transporter 1. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3) 56 Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) TCTCCCCAGGGCGTGAACCTG 0.577000 52 72 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10435045 10435045 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr17:10435045C>T ENST00000245503.5 - 22 2986 c.2602G>A c.(2602-2604)Gaa>Aaa p.E868K CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.E868K|CTC-297N7.7_ENST00000581304.1_RNA NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 868 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.E868K(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 TTGGCAAGTTCGTCTTTAATT 0.428000 31 59 0 0 1 0 0 SEZ6L2 26470 broad.mit.edu 37 16 29906757 29906757 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr16:29906757C>T ENST00000308713.5 - 5 1203 c.676G>A c.(676-678)Gaa>Aaa p.E226K SEZ6L2_ENST00000350527.3_Missense_Mutation_p.E156K|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.E182K|SEZ6L2_ENST00000346932.5_Intron|SEZ6L2_ENST00000562159.1_5'UTR NM_001114099.2|NM_201575.3 NP_001107571.1|NP_963869.2 Q6UXD5 SE6L2_HUMAN seizure related 6 homolog (mouse)-like 2 226 CUB 1. endoplasmic reticulum membrane|integral to membrane|plasma membrane breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 AGCTCCTCTTCCTGTGACAGG 0.612000 35 52 0 0 1 0 0 RECK 8434 broad.mit.edu 37 9 36105181 36105181 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr9:36105181C>T ENST00000377966.3 + 13 2043 c.1477C>T c.(1477-1479)Ccc>Tcc p.P493S NM_021111.2 NP_066934.1 O95980 RECK_HUMAN reversion-inducing-cysteine-rich protein with kazal motifs 493 anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 32 LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228) AGTGACTCATCCCTGTAACCC 0.403000 22 23 0 0 1 0 0 VSTM2A 222008 broad.mit.edu 37 7 54617709 54617709 + Silent SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr7:54617709C>T ENST00000302287.3 + 4 886 c.480C>T c.(478-480)ttC>ttT p.F160F VSTM2A_ENST00000402026.2_Silent_p.F159F|VSTM2A_ENST00000407838.3_Silent_p.F160F|VSTM2A_ENST00000402613.3_Silent_p.F160F|VSTM2A_ENST00000498834.1_3'UTR|VSTM2A_ENST00000404951.1_Silent_p.F160F Q8TAG5 VTM2A_HUMAN V-set and transmembrane domain containing 2A 160 extracellular region endometrium(1)|large_intestine(2)|lung(12)|prostate(1) 16 STAD - Stomach adenocarcinoma(5;0.0525) TGCAGGCCTTCGAAGCCTCGC 0.592000 14 31 0 0 1 0 0 BCL2 596 broad.mit.edu 37 18 60795886 60795886 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr18:60795886G>A ENST00000398117.1 - 2 2153 c.692C>T c.(691-693)aCc>aTc p.T231I BCL2_ENST00000333681.4_Missense_Mutation_p.T231I|BCL2_ENST00000590515.1_5'UTR NM_000633.2 NP_000624.2 P10415 BCL2_HUMAN B-cell CLL/lymphoma 2 231 activation of pro-apoptotic gene products|anti-apoptosis|apoptosis in response to endoplasmic reticulum stress|B cell proliferation|B cell receptor signaling pathway|defense response to virus|female pregnancy|humoral immune response|induction of apoptosis by intracellular signals|negative regulation of cellular pH reduction|negative regulation of mitochondrial depolarization|negative regulation of neuron apoptosis|neuron apoptosis|positive regulation of B cell proliferation|positive regulation of cell growth|protein polyubiquitination|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|regulation of transmembrane transporter activity|release of cytochrome c from mitochondria|response to cytokine stimulus|response to DNA damage stimulus|response to drug|response to iron ion|response to nicotine|response to toxin endoplasmic reticulum membrane|mitochondrial outer membrane|nuclear membrane|pore complex BH3 domain binding|channel activity|protease binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(106)|kidney(1)|large_intestine(1)|lung(3) 113 all_hematologic(56;1.18e-20)|Prostate(75;0.0872) Lung(128;0.0234)|READ - Rectum adenocarcinoma(59;0.0935) Docetaxel(DB01248)|Fludarabine(DB01073)|Melatonin(DB01065)|Paclitaxel(DB01229)|Rasagiline(DB01367) GGCACCCAGGGTGATGCAAGC 0.498000 T IGH@ """NHL, CLL""" 20 26 0 0 1 0 0 HHLA3 11147 broad.mit.edu 37 1 70820885 70820885 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr1:70820885C>T ENST00000359875.5 + 1 391 c.251C>T c.(250-252)gCg>gTg p.A84V HHLA3_ENST00000370940.5_Intron|HHLA3_ENST00000432224.1_Missense_Mutation_p.A84V|HHLA3_ENST00000531950.1_Missense_Mutation_p.A84V|HHLA3_ENST00000361764.4_Intron|HHLA3_ENST00000486110.1_3'UTR NM_001036645.1 NP_001031722.1 Q9XRX5 HHLA3_HUMAN HERV-H LTR-associating 3 84 protein binding large_intestine(3)|lung(1) 4 aaAGCGGAGGCGGGGAGGTGG 0.458000 3 12 0 0 1 0 0 ITPR3 3710 broad.mit.edu 37 6 33652666 33652666 + Silent SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr6:33652666G>A ENST00000374316.5 + 40 6313 c.5253G>A c.(5251-5253)caG>caA p.Q1751Q ITPR3_ENST00000605930.1_Silent_p.Q1751Q Q14573 ITPR3_HUMAN inositol 1,4,5-trisphosphate receptor, type 3 1751 activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 AGATCTTCCAGGAGAGCATCG 0.632000 52 121 0 0 1 0 0 CCDC60 160777 broad.mit.edu 37 12 119943076 119943076 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr12:119943076C>T ENST00000327554.2 + 7 1316 c.851C>T c.(850-852)tCa>tTa p.S284L RP11-768F21.1_ENST00000509470.2_lincRNA NM_178499.3 NP_848594.2 Q8IWA6 CCD60_HUMAN coiled-coil domain containing 60 284 endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.207) GAGTCATCTTCAACCAAGCCA 0.498000 42 99 0 0 1 0 0 COL11A1 1301 broad.mit.edu 37 1 103400100 103400100 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr1:103400100C>T ENST00000358392.2 - 46 3858 c.3541G>A c.(3541-3543)Gaa>Aaa p.E1181K COL11A1_ENST00000370096.3_Missense_Mutation_p.E1169K|COL11A1_ENST00000353414.4_Missense_Mutation_p.E1130K|COL11A1_ENST00000512756.1_Missense_Mutation_p.E1053K NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 1169 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) GGACCTGGTTCACCATCACCT 0.438000 21 36 0 0 1 0 0 PCDHGA2 56113 broad.mit.edu 37 5 140720927 140720927 + Silent SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr5:140720927C>T ENST00000394576.2 + 1 2389 c.2389C>T c.(2389-2391)Cta>Tta p.L797L PCDHGA1_ENST00000517417.1_Intron NM_018915.2 NP_061738.1 breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCTCAATCTCTACTCGAAGA 0.433000 47 10 0 0 1 0 0 ORAI2 80228 broad.mit.edu 37 7 102079408 102079408 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr7:102079408G>A ENST00000356387.2 + 3 240 c.5G>A c.(4-6)aGt>aAt p.S2N ORAI2_ENST00000403646.3_Missense_Mutation_p.S2N|ORAI2_ENST00000488996.1_Intron|ORAI2_ENST00000478730.1_Missense_Mutation_p.S2N|ORAI2_ENST00000473939.1_Missense_Mutation_p.S2N NM_001126340.1|NM_001271818.1|NM_001271819.1|NM_032831.3 NP_001119812.1|NP_001258747.1|NP_001258748.1|NP_116220.1 Q96SN7 ORAI2_HUMAN ORAI calcium release-activated calcium modulator 2 2 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 CCCACCATGAGTGCTGAGCTT 0.597000 161 131 0 0 1 0 0 C6orf201 404220 broad.mit.edu 37 6 4099316 4099316 + Silent SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr6:4099316G>A ENST00000380175.4 + 3 933 c.168G>A c.(166-168)ccG>ccA p.P56P C6orf201_ENST00000430835.2_Silent_p.P56P|C6orf201_ENST00000360378.6_3'UTR|C6orf201_ENST00000333388.5_Silent_p.P59P NM_001085401.2 NP_001078870.1 Q7Z4U5 CF201_HUMAN chromosome 6 open reading frame 201 56 central_nervous_system(1)|endometrium(3)|lung(2) 6 Ovarian(93;0.0925) all_hematologic(90;0.0895) CCCCAAAGCCGAACAGAATGC 0.418000 34 83 0 0 1 0 0 SPOCK3 50859 broad.mit.edu 37 4 167675755 167675755 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr4:167675755C>T ENST00000357154.3 - 9 981 c.844G>A c.(844-846)Gaa>Aaa p.E282K SPOCK3_ENST00000511531.1_Missense_Mutation_p.E282K|SPOCK3_ENST00000541637.1_Missense_Mutation_p.E184K|SPOCK3_ENST00000541354.1_Missense_Mutation_p.E162K|SPOCK3_ENST00000535728.1_Missense_Mutation_p.E150K|SPOCK3_ENST00000502330.1_Missense_Mutation_p.E282K|SPOCK3_ENST00000510741.1_Missense_Mutation_p.E239K|SPOCK3_ENST00000534949.1_Missense_Mutation_p.E186K|SPOCK3_ENST00000512648.1_Missense_Mutation_p.E279K|SPOCK3_ENST00000504953.1_Missense_Mutation_p.E279K|SPOCK3_ENST00000357545.4_Missense_Mutation_p.E279K|SPOCK3_ENST00000421836.2_Missense_Mutation_p.E231K|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000512681.1_Missense_Mutation_p.E184K|SPOCK3_ENST00000506886.1_Missense_Mutation_p.E282K|SPOCK3_ENST00000511269.1_Missense_Mutation_p.E279K NM_016950.2 NP_058646.2 Q9BQ16 TICN3_HUMAN sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 282 signal transduction proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase inhibitor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 38 all_hematologic(180;0.221) Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198) GBM - Glioblastoma multiforme(119;0.02) GTACACTGTTCATTCTTATCA 0.403000 42 47 0 0 1 0 0 TBC1D2 55357 broad.mit.edu 37 9 100963902 100963902 + Silent SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr9:100963902G>A ENST00000375066.5 - 11 2407 c.2316C>T c.(2314-2316)ccC>ccT p.P772P TBC1D2_ENST00000342112.5_Silent_p.P554P|TBC1D2_ENST00000375064.1_Silent_p.P772P|TBC1D2_ENST00000375063.1_Silent_p.P312P NM_018421.3 NP_060891.3 Q9BYX2 TBD2A_HUMAN TBC1 domain family, member 2 772 Rab-GAP TBC. cell junction|cytoplasmic membrane-bounded vesicle|nucleus Rab GTPase activator activity breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;2.55e-37) CCATCAGCCTGGGCAGCTTCT 0.627000 43 65 0 0 1 0 0 OR2A12 346525 broad.mit.edu 37 7 143793049 143793049 + Silent SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr7:143793049C>T ENST00000408949.2 + 1 909 c.849C>T c.(847-849)atC>atT p.I283I NM_001004135.1 NP_001004135.1 Q8NGT7 O2A12_HUMAN olfactory receptor, family 2, subfamily A, member 12 283 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2) 25 Melanoma(164;0.0783) TCAACCCGATCCTGAACCCCC 0.468000 319 220 0 0 1 0 0 DAO 1610 broad.mit.edu 37 12 109288105 109288105 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr12:109288105G>A ENST00000228476.3 + 7 778 c.574G>A c.(574-576)Gac>Aac p.D192N DAO_ENST00000551281.1_Missense_Mutation_p.D126N NM_001917.4 NP_001908.3 P14920 OXDA_HUMAN D-amino-acid oxidase 192 glyoxylate metabolic process peroxisomal matrix binding|D-amino-acid oxidase activity NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1) 26 GCTACAACGAGACCCCCTGCT 0.547000 6 25 0 0 1 0 0 USP50 373509 broad.mit.edu 37 15 50833271 50833271 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr15:50833271G>A ENST00000532404.1 - 4 808 c.635C>T c.(634-636)cCa>cTa p.P212L USP50_ENST00000530218.1_Intron NM_203494.4 NP_987090.2 E9PP86 E9PP86_HUMAN ubiquitin specific peptidase 50 212 ubiquitin-dependent protein catabolic process ubiquitin thiolesterase activity breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(5) 13 all cancers(107;0.000519)|GBM - Glioblastoma multiforme(94;0.00288) ATATTTGGATGGAATGGGGAG 0.458000 17 25 0 0 1 0 0 TRIO 7204 broad.mit.edu 37 5 14498697 14498697 + Silent SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr5:14498697C>T ENST00000344204.4 + 53 8304 c.8280C>T c.(8278-8280)atC>atT p.I2760I TRIO_ENST00000537187.1_Silent_p.I2584I|TRIO_ENST00000344135.5_Silent_p.I259I NM_007118.2 NP_009049.2 O75962 TRIO_HUMAN trio Rho guanine nucleotide exchange factor 2760 Ig-like C2-type. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) ACACGTGCATCGCTGTCAATG 0.592000 60 80 0 0 1 0 0 TEF 7008 broad.mit.edu 37 22 41783396 41783396 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr22:41783396G>A ENST00000266304.4 + 2 315 c.199G>A c.(199-201)Gca>Aca p.A67T TEF_ENST00000406644.3_Missense_Mutation_p.A37T NM_003216.3 NP_003207.1 Q10587 TEF_HUMAN thyrotrophic embryonic factor 67 rhythmic process nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(2)|lung(2)|ovary(1) 6 GGACGAGGCCGCAGCCGCCAG 0.527000 72 76 0 0 1 0 0 SAGE1 55511 broad.mit.edu 37 X 134989123 134989123 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chrX:134989123G>A ENST00000535938.1 + 8 942 c.775G>A c.(775-777)Gaa>Aaa p.E259K SAGE1_ENST00000324447.3_Missense_Mutation_p.E259K|SAGE1_ENST00000370709.3_Missense_Mutation_p.E259K|SAGE1_ENST00000537770.1_Intron NM_018666.2 NP_061136.2 Q9NXZ1 SAGE1_HUMAN sarcoma antigen 1 259 breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 Acute lymphoblastic leukemia(192;0.000127) GGAGAAGATGGAAAAGGGCCA 0.473000 61 77 0 0 1 0 0 ABCC5 10057 broad.mit.edu 37 3 183681181 183681181 + Nonsense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr3:183681181G>A ENST00000334444.6 - 15 2467 c.2227C>T c.(2227-2229)Cag>Tag p.Q743* ABCC5_ENST00000265586.6_Nonsense_Mutation_p.Q743* NM_005688.2 NP_005679.2 O15440 MRP5_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 5 743 ABC transporter 1. integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_cancers(143;1.85e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) ACCTGTAACTGGTGGGTAACA 0.488000 50 78 0 0 1 0 0 KLHL15 80311 broad.mit.edu 37 X 24024803 24024803 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chrX:24024803C>T ENST00000328046.8 - 3 263 c.8G>A c.(7-9)gGg>gAg p.G3E NM_030624.2 NP_085127.2 Q96M94 KLH15_HUMAN kelch-like family member 15 3 autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1) 22 TTCCACGTCCCCTGCCATGAA 0.413000 9 18 0 0 1 0 0 ASXL3 80816 broad.mit.edu 37 18 31251830 31251830 + Splice_Site SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr18:31251830G>A ENST00000269197.5 + 7 715 c.715_splice c.e7+1 p.G239_splice NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 239 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 GTCTGGTTTAGGTGAGTGTTT 0.289000 6 14 0 0 1 0 0 MICAL3 57553 broad.mit.edu 37 22 18379508 18379508 + Silent SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr22:18379508G>A ENST00000441493.2 - 8 1540 c.1188C>T c.(1186-1188)gtC>gtT p.V396V MICAL3_ENST00000585038.1_Silent_p.V396V|MICAL3_ENST00000414725.2_Silent_p.V396V|MICAL3_ENST00000444520.1_Silent_p.V396V|MICAL3_ENST00000207726.7_Silent_p.V396V|MICAL3_ENST00000429452.1_Silent_p.V396V|MICAL3_ENST00000383094.3_Silent_p.V396V|MICAL3_ENST00000400561.2_Silent_p.V396V NM_015241.2 NP_056056.2 Q7RTP6 MICA3_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 3 396 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) GGCTGTCCCCGACCAGAGCCA 0.552000 OREG0026285 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 30 44 0 0 1 0 0 SALL1 6299 broad.mit.edu 37 16 51171240 51171240 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr16:51171240G>A ENST00000440970.1 - 3 3898 c.3467C>T c.(3466-3468)tCc>tTc p.S1156F SALL1_ENST00000251020.4_Missense_Mutation_p.S1253F|SALL1_ENST00000541611.1_Missense_Mutation_p.S76F|SALL1_ENST00000566102.1_3'UTR NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 1253 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) CTGAATGACGGAGATCTCGTT 0.577000 23 39 0 0 1 0 0 CCDC174 51244 broad.mit.edu 37 3 14712409 14712409 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr3:14712409C>T ENST00000383794.3 + 11 1185 c.1112C>T c.(1111-1113)tCc>tTc p.S371F CCDC174_ENST00000303688.7_Missense_Mutation_p.S295F|CCDC174_ENST00000476763.1_3'UTR NM_016474.4 NP_057558.3 coiled-coil domain containing 174 CCAGAATTTTCCTTTGGATAC 0.368000 17 16 0 0 1 0 0 TEAD1 7003 broad.mit.edu 37 11 12886424 12886424 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr11:12886424C>T ENST00000361905.4 + 5 927 c.262C>T c.(262-264)Cgt>Tgt p.R88C TEAD1_ENST00000334310.6_Missense_Mutation_p.R88C|TEAD1_ENST00000527636.1_Missense_Mutation_p.R103C|TEAD1_ENST00000361985.2_Missense_Mutation_p.R103C|TEAD1_ENST00000527575.1_Missense_Mutation_p.R103C NM_021961.5 NP_068780.2 P28347 TEAD1_HUMAN TEA domain family member 1 (SV40 transcriptional enhancer factor) 103 hippo signaling cascade DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9) 17 Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236) AAGGAAATCTCGTGATTTTCA 0.458000 47 96 0 0 1 0 0 SLC12A3 6559 broad.mit.edu 37 16 56926025 56926025 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr16:56926025G>A ENST00000438926.2 + 20 2428 c.2399G>A c.(2398-2400)gGg>gAg p.G800E SLC12A3_ENST00000262502.5_Missense_Mutation_p.G799E|SLC12A3_ENST00000566786.1_Missense_Mutation_p.G799E|SLC12A3_ENST00000563236.1_Missense_Mutation_p.G800E NM_000339.2|NM_001126107.1|NM_001126108.1 NP_000330.2|NP_001119579.1|NP_001119580.1 P55017 S12A3_HUMAN solute carrier family 12 (sodium/chloride transporter), member 3 800 sodium ion transmembrane transport apical plasma membrane|integral to plasma membrane|membrane fraction sodium:chloride symporter activity breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325) GCGGAGGACGGGAAGGAAGCC 0.597000 79 131 0 0 1 0 0 VPS54 51542 broad.mit.edu 37 2 64139727 64139727 + Nonsense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr2:64139727G>A ENST00000354504.3 - 16 2621 c.2032C>T c.(2032-2034)Cga>Tga p.R678* VPS54_ENST00000272322.4_Nonsense_Mutation_p.R831*|VPS54_ENST00000409558.3_Nonsense_Mutation_p.R819* Q9P1Q0 VPS54_HUMAN vacuolar protein sorting 54 homolog (S. cerevisiae) 831 EER -> VGG (in Ref. 1; AAF37319). protein transport|retrograde transport, endosome to Golgi endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 27 GGTGGTAGTCGAGCTTCAAAA 0.378000 20 59 0 0 1 0 0 OR5P2 120065 broad.mit.edu 37 11 7817749 7817749 + Silent SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr11:7817749G>A ENST00000329434.2 - 1 771 c.741C>T c.(739-741)ttC>ttT p.F247F RP11-35J10.5_ENST00000527565.1_lincRNA NM_153444.1 NP_703145.1 Q8WZ92 OR5P2_HUMAN olfactory receptor, family 5, subfamily P, member 2 247 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4) 22 Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) TGGTCCCATAGAACAGGGTAA 0.488000 34 49 0 0 1 0 0 TRBV3-1 28619 broad.mit.edu 37 7 142008598 142008598 + RNA SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr7:142008598C>T ENST00000390387.3 + 0 118 ACAGCTGTTTCCCAGACTCCA 0.453000 41 21 0 0 1 0 0 OR4M1 441670 broad.mit.edu 37 14 20248980 20248980 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr14:20248980C>T ENST00000315957.4 + 1 580 c.499C>T c.(499-501)Cct>Tct p.P167S NM_001005500.1 NP_001005500.1 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, member 1 167 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2) 42 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TGTTCGACTTCCTTTCTGTGG 0.488000 97 117 0 0 1 0 0 LCT 3938 broad.mit.edu 37 2 136574958 136574958 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr2:136574958C>T ENST00000264162.2 - 6 1670 c.1660G>A c.(1660-1662)Ggc>Agc p.G554S NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 554 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) GGGTGCTGGCCGGTGCCATAG 0.577000 17 59 0 0 1 0 0 GCK 2645 broad.mit.edu 37 7 44189567 44189567 + Splice_Site SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr7:44189567C>T ENST00000403799.3 - 5 1049 c.e5+1 GCK_ENST00000395796.3_Splice_Site|GCK_ENST00000345378.2_Splice_Site|GCK_ENST00000437084.1_Splice_Site NM_000162.3 NP_000153.1 P35557 HXK4_HUMAN glucokinase (hexokinase 4) cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport cytosol|nucleoplasm ATP binding|glucokinase activity|glucose binding|protein binding central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 37 TGCCCCCTCACCCCTCTCCGT 0.622000 98 66 0 0 1 0 0 PRAMEF12 390999 broad.mit.edu 37 1 12835736 12835736 + Nonsense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr1:12835736G>A ENST00000357726.4 + 2 365 c.338G>A c.(337-339)tGg>tAg p.W113* NM_001080830.1 NP_001074299.1 O95522 PRA12_HUMAN PRAME family member 12 113 NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1) 23 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GAGAACTTCTGGGGCATATGG 0.532000 118 184 0 0 1 0 0 RAP1GAP2 23108 broad.mit.edu 37 17 2901664 2901664 + Silent SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr17:2901664C>T ENST00000254695.8 + 14 1284 c.1194C>T c.(1192-1194)tcC>tcT p.S398S RAP1GAP2_ENST00000540393.2_Silent_p.S379S|RAP1GAP2_ENST00000542807.1_Silent_p.S398S|RAP1GAP2_ENST00000366401.4_Silent_p.S383S NM_015085.4 NP_055900.4 Q684P5 RPGP2_HUMAN RAP1 GTPase activating protein 2 398 Rap-GAP. regulation of small GTPase mediated signal transduction centrosome|cytosol|perinuclear region of cytoplasm GTPase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 11 AGACCCCATCCTACAAGGTAA 0.542000 21 9 0 0 1 0 0 PTPRG 5793 broad.mit.edu 37 3 62189056 62189056 + Silent SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr3:62189056C>T ENST00000474889.1 + 12 1964 c.1587C>T c.(1585-1587)ttC>ttT p.F529F PTPRG_ENST00000295874.10_Silent_p.F529F NM_002841.3 NP_002832.3 P23470 PTPRG_HUMAN protein tyrosine phosphatase, receptor type, G 529 transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane identical protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065) TCTCCTCTTTCCCCAGCACTG 0.701000 25 18 0 0 1 0 0 ESF1 51575 broad.mit.edu 37 20 13763291 13763291 + Nonsense_Mutation SNP T T A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr20:13763291T>A ENST00000202816.1 - 2 603 c.496A>T c.(496-498)Aag>Tag p.K166* NM_001276380.1|NM_016649.3 NP_001263309.1|NP_057733.2 Q9H501 ESF1_HUMAN ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae) 166 Lys-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|nucleoplasm endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1) 31 TTCTCTTTCTTATTTTTTTGT 0.299000 12 21 0 0 1 0 0 ACE 1636 broad.mit.edu 37 17 61570991 61570991 + Missense_Mutation SNP A A G TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr17:61570991A>G ENST00000577647.1 + 9 1430 c.1385A>G c.(1384-1386)aAc>aGc p.N462S ACE_ENST00000421982.2_Missense_Mutation_p.N282S|ACE_ENST00000290863.6_Missense_Mutation_p.N462S|ACE_ENST00000290866.4_Missense_Mutation_p.N1036S|ACE_ENST00000413513.3_Missense_Mutation_p.N462S|ACE_ENST00000490216.2_Missense_Mutation_p.N462S|ACE_ENST00000428043.1_Missense_Mutation_p.N1036S P12821 ACE_HUMAN angiotensin I converting enzyme 1036 Peptidase M2 1. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) CACAGTCTCAACCTGCTGAGC 0.632000 25 40 0 0 1 0 0 PHKB 5257 broad.mit.edu 37 16 47722954 47722954 + Nonsense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr16:47722954G>A ENST00000455779.1 + 28 2797 c.2612G>A c.(2611-2613)tGg>tAg p.W871* PHKB_ENST00000323584.5_Nonsense_Mutation_p.W878*|PHKB_ENST00000299167.8_Nonsense_Mutation_p.W878*|PHKB_ENST00000566044.1_Nonsense_Mutation_p.W871* Q93100 KPBB_HUMAN phosphorylase kinase, beta 878 glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1) 41 all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203) TGTTTCAGGTGGATCATCCAT 0.443000 46 53 0 0 1 0 0 ADAM7 8756 broad.mit.edu 37 8 24350570 24350570 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr8:24350570G>A ENST00000175238.6 + 16 1753 c.1670G>A c.(1669-1671)gGa>gAa p.G557E ADAM7_ENST00000520720.1_Missense_Mutation_p.G329E|RP11-561E1.1_ENST00000519364.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.G557E|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA NM_003817.3 NP_003808.2 Q9H2U9 ADAM7_HUMAN ADAM metallopeptidase domain 7 557 Cys-rich. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding 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) GTCAGATGTGGAAAGATCTAC 0.448000 4 34 0 0 1 0 0 IGHV4-31 28396 broad.mit.edu 37 14 106805624 106805624 + RNA SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr14:106805624G>A ENST00000438142.2 - 0 92 CCAGCAGGAGGAAGAACCACA 0.522000 22 64 0 0 1 0 0 SPINT2 10653 broad.mit.edu 37 19 38774391 38774391 + Missense_Mutation SNP T T A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr19:38774391T>A ENST00000301244.7 + 2 666 c.231T>A c.(229-231)aaT>aaA p.N77K SPINT2_ENST00000454580.3_Intron|SPINT2_ENST00000587090.1_Missense_Mutation_p.N27K NM_021102.3 NP_066925.1 O43291 SPIT2_HUMAN serine peptidase inhibitor, Kunitz type, 2 77 BPTI/Kunitz inhibitor 1. cellular component movement cytoplasm|extracellular region|integral to membrane|soluble fraction serine-type endopeptidase inhibitor activity large_intestine(2)|lung(1)|ovary(1) 4 all_cancers(60;6.83e-07) Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) ACAGCAATAATTACCTGACCA 0.473000 48 51 0 0 1 0 0 TGM5 9333 broad.mit.edu 37 15 43527848 43527848 + Silent SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr15:43527848G>A ENST00000220420.5 - 10 1540 c.1533C>T c.(1531-1533)ttC>ttT p.F511F TGM5_ENST00000349114.4_Silent_p.F429F NM_201631.3 NP_963925.2 O43548 TGM5_HUMAN transglutaminase 5 511 epidermis development|peptide cross-linking cytoplasm acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1) 44 all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;4e-07) L-Glutamine(DB00130) CGAGCAGCTTGAATTTCAGGG 0.562000 23 32 0 0 1 0 0 DBF4B 80174 broad.mit.edu 37 17 42807321 42807321 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr17:42807321C>T ENST00000315005.3 + 4 412 c.274C>T c.(274-276)Cgc>Tgc p.R92C DBF4B_ENST00000393547.2_Missense_Mutation_p.R92C|DBF4B_ENST00000398338.3_Missense_Mutation_p.R92C|DBF4B_ENST00000526915.1_3'UTR NM_145663.2 NP_663696.1 Q8NFT6 DBF4B_HUMAN DBF4 homolog B (S. cerevisiae) 92 BRCT. cell cycle nucleus nucleic acid binding|zinc ion binding kidney(1)|large_intestine(1)|lung(5) 7 Prostate(33;0.0322) CGTGTCCAGCCGCAGAGAAGT 0.493000 32 45 0 0 1 0 0 GGT3P 2679 broad.mit.edu 37 22 18769145 18769145 + RNA SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr22:18769145G>A ENST00000412448.1 - 0 1141 TGAGGCTGCCGTTGTAGAAGG 0.612000 3 13 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179548796 179548796 + Silent SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr2:179548796C>T ENST00000589042.1 - 133 32960 c.32736G>A c.(32734-32736)ccG>ccA p.P10912P TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Silent_p.P10595P|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.P9668P NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 10595 Glu-rich.|Pro-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) CAGCTCTCTTCGGTTCCTCTG 0.368000 11 38 0 0 1 0 0 GSDMA 284110 broad.mit.edu 37 17 38133236 38133236 + Silent SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr17:38133236C>T ENST00000301659.4 + 12 1381 c.1263C>T c.(1261-1263)gaC>gaT p.D421D NM_178171.4 NP_835465.2 Q96QA5 GSDMA_HUMAN gasdermin A 421 apoptosis|induction of apoptosis perinuclear region of cytoplasm NS(1)|endometrium(2)|large_intestine(3)|lung(1) 7 ATATGTGGGACCCAGACACCC 0.577000 37 62 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 216173863 216173863 + Missense_Mutation SNP A A C TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr1:216173863A>C ENST00000366943.2 - 33 6753 c.6367T>G c.(6367-6369)Tgc>Ggc p.C2123G USH2A_ENST00000307340.3_Missense_Mutation_p.C2123G O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 2123 Fibronectin type-III 7. 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) ACATGTGTGCATGCACTTAGT 0.453000 HNSCC(13;0.011) 37 58 0 0 1 0 0 CNPPD1 27013 broad.mit.edu 37 2 220039815 220039815 + Silent SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr2:220039815G>A ENST00000409789.1 - 5 703 c.276C>T c.(274-276)tcC>tcT p.S92S CNPPD1_ENST00000360507.5_Silent_p.S92S Q9BV87 CNPD1_HUMAN cyclin Pas1/PHO80 domain containing 1 92 regulation of cyclin-dependent protein kinase activity integral to membrane protein kinase binding endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4) 12 TAGCACATGGGGAGATGCATG 0.502000 7 42 0 0 1 0 0 MYH15 22989 broad.mit.edu 37 3 108219053 108219053 + Silent SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr3:108219053G>A ENST00000273353.3 - 5 524 c.468C>T c.(466-468)gtC>gtT p.V156V NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 156 Myosin head-like. myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 AGGCGGCCATGACTTCTTTCT 0.468000 29 38 0 0 1 0 0 ODF1 4956 broad.mit.edu 37 8 103564169 103564169 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr8:103564169C>T ENST00000285402.3 + 1 370 c.214C>T c.(214-216)Cca>Tca p.P72S NM_024410.3 NP_077721.2 Q14990 ODFP1_HUMAN outer dense fiber of sperm tails 1 72 2 X 5 AA repeats of [RC]-C-L-C-D. cell differentiation|multicellular organismal development|spermatogenesis outer dense fiber structural molecule activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 20 all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826) TGATCTCTACCCATGTTGCCT 0.488000 88 61 0 0 1 0 0 MMP17 4326 broad.mit.edu 37 12 132334550 132334550 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr12:132334550C>T ENST00000360564.1 + 9 1510 c.1408C>T c.(1408-1410)Ccc>Tcc p.P470S MMP17_ENST00000535291.1_Missense_Mutation_p.P386S|MMP17_ENST00000535004.1_Missense_Mutation_p.P10S NM_016155.4 NP_057239.4 Q9ULZ9 MMP17_HUMAN matrix metallopeptidase 17 (membrane-inserted) 470 Hemopexin-like 3. proteolysis anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding endometrium(1)|large_intestine(3)|lung(1) 5 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05) CGCCCAGAGCCCCCTGTGGAG 0.652000 31 49 0 0 1 0 0 CILP2 148113 broad.mit.edu 37 19 19655604 19655604 + Silent SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr19:19655604C>T ENST00000586018.1 + 8 2370 c.2268C>T c.(2266-2268)acC>acT p.T756T CILP2_ENST00000291495.4_Silent_p.T750T Q8IUL8 CILP2_HUMAN cartilage intermediate layer protein 2 750 proteinaceous extracellular matrix carbohydrate binding|carboxypeptidase activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 32 ACAAGTTCACCCCCAGCGAGC 0.687000 9 5 0 0 1 0 0 HDAC9 9734 broad.mit.edu 37 7 18631235 18631235 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr7:18631235C>T ENST00000406451.3 + 5 653 c.503C>T c.(502-504)tCc>tTc p.S168F HDAC9_ENST00000456174.2_Missense_Mutation_p.S140F|HDAC9_ENST00000441542.2_Missense_Mutation_p.S171F|HDAC9_ENST00000405010.3_Missense_Mutation_p.S168F|HDAC9_ENST00000432645.2_Missense_Mutation_p.S168F|HDAC9_ENST00000401921.1_Missense_Mutation_p.S171F|HDAC9_ENST00000428307.2_Missense_Mutation_p.S168F|HDAC9_ENST00000417496.2_Missense_Mutation_p.S210F|HDAC9_ENST00000524023.1_Missense_Mutation_p.S137F|HDAC9_ENST00000406072.1_Missense_Mutation_p.S199F NM_178423.1|NM_178425.2 NP_848510.1|NP_848512.1 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 168 B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 82 all_lung(11;0.187) Valproic Acid(DB00313) AAAAATCATTCCGTGAGCCGC 0.463000 48 42 0 0 1 0 0 FLJ36000 284124 broad.mit.edu 37 17 21909484 21909484 + RNA SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr17:21909484G>A ENST00000581223.2 + 0 209 NR_027084.1 TTGTCCGGCAGGAGAGGAGCA 0.532000 2 1 0 0 1 0 0 PDLIM5 10611 broad.mit.edu 37 4 95508169 95508169 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr4:95508169C>T ENST00000380180.3 + 9 792 c.641C>T c.(640-642)cCc>cTc p.P214L PDLIM5_ENST00000538141.1_Missense_Mutation_p.P194L|PDLIM5_ENST00000380176.3_Intron|PDLIM5_ENST00000437932.1_Intron|PDLIM5_ENST00000508216.1_Missense_Mutation_p.P214L|PDLIM5_ENST00000450793.1_Missense_Mutation_p.P214L|PDLIM5_ENST00000542407.1_Intron|PDLIM5_ENST00000514743.1_Intron|PDLIM5_ENST00000317968.4_Intron|PDLIM5_ENST00000318007.5_Missense_Mutation_p.P194L NM_001011515.2 NP_001011515.1 Q96HC4 PDLI5_HUMAN PDZ and LIM domain 5 0 regulation of dendritic spine morphogenesis|regulation of synaptogenesis actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome actin binding|actinin binding|protein kinase C binding|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 22 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.84e-09) GTCTTTAGTCCCAAATACACA 0.393000 12 14 0 0 1 0 0 CDH18 1016 broad.mit.edu 37 5 19571687 19571687 + Splice_Site SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr5:19571687C>T ENST00000507958.1 - 10 2244 c.e10+1 CDH18_ENST00000382275.1_Splice_Site|CDH18_ENST00000274170.4_Splice_Site|CDH18_ENST00000511273.1_Splice_Site|CDH18_ENST00000506372.1_Splice_Site|CDH18_ENST00000502796.1_Splice_Site Q13634 CAD18_HUMAN cadherin 18, type 2 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1) 138 Lung NSC(1;0.00734)|all_lung(1;0.0197) GCATGCCATACCTTACTAAGC 0.363000 42 42 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453137 140453137 + Missense_Mutation SNP C C T rs121913227 TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr7:140453137C>T ENST00000288602.6 - 15 1858 c.1798G>A c.(1798-1800)Gtg>Atg p.V600M NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600K(252)|p.V600R(44)|p.V600M(21)|p.V600L(9)|p.T599_R603>I(2)|p.T599_V600>IAL(2)|p.V600Q(2)|p.T599_V600insT(2)|p.T599_V600insTT(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) CGAGATTTCACTGTAGCTAGA 0.363000 V600M(IGR1_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 72 49 0 0 1 0 0 DMBX1 127343 broad.mit.edu 37 1 46976737 46976737 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr1:46976737C>T ENST00000371956.4 + 3 494 c.479C>T c.(478-480)aCc>aTc p.T160I DMBX1_ENST00000360032.3_Missense_Mutation_p.T155I NM_147192.2 NP_671725.1 Q8NFW5 DMBX1_HUMAN diencephalon/mesencephalon homeobox 1 160 brain development|developmental growth|negative regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Acute lymphoblastic leukemia(166;0.155) ACTCCAGATACCCAGCTGGAC 0.642000 45 94 0 0 1 0 0 F13B 2165 broad.mit.edu 37 1 197024887 197024887 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr1:197024887G>A ENST00000367412.1 - 8 1355 c.1312C>T c.(1312-1314)Cgt>Tgt p.R438C NM_001994.2 NP_001985.2 P05160 F13B_HUMAN coagulation factor XIII, B polypeptide 438 Sushi 7. 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 TGTTCGCAACGAGATATTTTT 0.413000 38 63 0 0 1 0 0 CCDC67 159989 broad.mit.edu 37 11 93129436 93129436 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr11:93129436C>T ENST00000298050.3 + 11 1371 c.1271C>T c.(1270-1272)aCt>aTt p.T424I CCDC67_ENST00000525646.1_Missense_Mutation_p.T166I NM_181645.3 NP_857596.2 Q05D60 CCD67_HUMAN coiled-coil domain containing 67 424 endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824) GCTGTCAGAACTGAAAACACA 0.299000 4 4 0 0 1 0 0 PLXNA1 5361 broad.mit.edu 37 3 126726729 126726729 + Silent SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr3:126726729C>T ENST00000251772.4 + 8 2085 c.2016C>T c.(2014-2016)ttC>ttT p.F672F PLXNA1_ENST00000393409.2_Silent_p.F695F Q9UIW2 PLXA1_HUMAN plexin A1 695 axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 67 GBM - Glioblastoma multiforme(114;0.155) ACTGCGCCTTCCTGGAGGGCC 0.602000 32 61 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100693850 100693850 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr7:100693850G>A ENST00000306151.4 + 7 12872 c.12808G>A c.(12808-12810)Gaa>Aaa p.E4270K NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 4270 SEA. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity p.E4270K(1) 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) CAATGCCACCGAAGTAGTGAA 0.463000 35 65 0 0 1 0 0 AIM1 202 broad.mit.edu 37 6 106969113 106969113 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr6:106969113G>A ENST00000369066.3 + 2 3293 c.2806G>A c.(2806-2808)Gat>Aat p.D936N NM_001624.2 NP_001615.1 Q9Y4K1 AIM1_HUMAN absent in melanoma 1 936 sugar binding breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 69 Breast(9;0.0138)|all_epithelial(6;0.169) all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473) Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305) all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858) AGAAGATCTGGATTCACGAAG 0.363000 55 13 0 0 1 0 0 DSC1 1823 broad.mit.edu 37 18 28714536 28714536 + Splice_Site SNP A A T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr18:28714536A>T ENST00000257197.3 - 12 2136 c.1876_splice c.e12+1 p.D625_splice DSC1_ENST00000257198.5_Splice_Site_p.D625_splice|RP11-408H20.2_ENST00000581836.1_RNA NM_004948.3 NP_004939.1 Q08554 DSC1_HUMAN desmocollin 1 625 Cadherin 5. homophilic cell adhesion desmosome|gap junction|integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 OV - Ovarian serous cystadenocarcinoma(10;0.00778) ATTACATACCATCCTTTTCTT 0.333000 5 14 0 0 1 0 0 SIGLEC7 27036 broad.mit.edu 37 19 51649133 51649133 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr19:51649133G>A ENST00000317643.6 + 4 851 c.782G>A c.(781-783)aGc>aAc p.S261N SIGLEC7_ENST00000305628.7_Missense_Mutation_p.S168N|SIGLEC7_ENST00000600577.1_Intron NM_014385.2 NP_055200.1 Q9Y286 SIGL7_HUMAN sialic acid binding Ig-like lectin 7 261 Ig-like C2-type 2. cell adhesion integral to plasma membrane receptor activity|sugar binding autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1) 29 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297) CTGGGGAACAGCTCATCTCTT 0.522000 64 107 0 0 1 0 0 CHGB 1114 broad.mit.edu 37 20 5904651 5904651 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr20:5904651C>T ENST00000378961.4 + 4 2065 c.1861C>T c.(1861-1863)Cca>Tca p.P621S NM_001819.2 NP_001810.2 P05060 SCG1_HUMAN chromogranin B (secretogranin 1) 621 extracellular region hormone activity breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 47 AGCTGAGTTTCCAGACTTCTA 0.542000 21 19 0 0 1 0 0 GPR97 222487 broad.mit.edu 37 16 57719742 57719742 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr16:57719742C>T ENST00000333493.4 + 11 1605 c.1444C>T c.(1444-1446)Ctc>Ttc p.L482F GPR97_ENST00000450388.3_Missense_Mutation_p.L362F|GPR97_ENST00000327655.6_Missense_Mutation_p.L272F|RP11-405F3.4_ENST00000563062.1_RNA NM_170776.4 NP_740746.4 Q86Y34 GPR97_HUMAN G protein-coupled receptor 97 482 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 CCTGCTGGGCCTCTCGAGCCT 0.602000 44 49 0 0 1 0 0 LAD1 3898 broad.mit.edu 37 1 201355818 201355818 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr1:201355818C>T ENST00000391967.2 - 3 972 c.671G>A c.(670-672)aGa>aAa p.R224K LAD1_ENST00000367313.3_Missense_Mutation_p.R238K NM_005558.3 NP_005549.2 O00515 LAD1_HUMAN ladinin 1 224 8 X SEK repeats. basement membrane structural molecule activity p.R224I(1) breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2) 19 TGAGCTGTTTCTTTTCTCTGA 0.502000 76 95 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238285713 238285713 + Silent SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr2:238285713C>T ENST00000295550.4 - 7 3224 c.2772G>A c.(2770-2772)caG>caA p.Q924Q COL6A3_ENST00000392004.3_Silent_p.Q718Q|COL6A3_ENST00000472056.1_Silent_p.Q317Q|COL6A3_ENST00000392003.2_Silent_p.Q517Q|COL6A3_ENST00000353578.4_Silent_p.Q718Q|COL6A3_ENST00000409809.1_Silent_p.Q718Q|COL6A3_ENST00000346358.4_Silent_p.Q724Q|COL6A3_ENST00000347401.3_Silent_p.Q723Q NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 924 Nonhelical region.|VWFA 5. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) AAATGTACCTCTGTGCATAGT 0.532000 24 69 0 0 1 0 0 TTC29 83894 broad.mit.edu 37 4 147861050 147861050 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr4:147861050C>T ENST00000513335.1 - 4 275 c.76G>A c.(76-78)Gaa>Aaa p.E26K TTC29_ENST00000398886.4_Missense_Mutation_p.E26K|RP11-292D4.2_ENST00000515530.1_RNA|TTC29_ENST00000325106.4_5'UTR Q8NA56 TTC29_HUMAN tetratricopeptide repeat domain 29 0 binding breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 26 all_hematologic(180;0.151) GTGGTCATTTCGGACTACAAA 0.413000 5 8 0 0 1 0 0 SLC2A14 144195 broad.mit.edu 37 12 7980198 7980198 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr12:7980198C>T ENST00000543909.1 - 12 1585 c.826G>A c.(826-828)Gaa>Aaa p.E276K SLC2A14_ENST00000396589.2_Missense_Mutation_p.E276K|SLC2A14_ENST00000542546.1_Missense_Mutation_p.E167K|SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000535295.1_Missense_Mutation_p.E167K|SLC2A14_ENST00000431042.2_Missense_Mutation_p.E253K|SLC2A14_ENST00000539924.1_Missense_Mutation_p.E291K|SLC2A14_ENST00000340749.5_Missense_Mutation_p.E253K Q8TDB8 GTR14_HUMAN solute carrier family 2 (facilitated glucose transporter), member 14 276 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane glucose transmembrane transporter activity central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 38 Kidney(36;0.0883) ACTTGCTTTTCTTGTGACATC 0.512000 23 42 0 0 1 0 0 DRD2 1813 broad.mit.edu 37 11 113286217 113286217 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr11:113286217G>A ENST00000362072.3 - 5 993 c.649C>T c.(649-651)Cgc>Tgc p.R217C DRD2_ENST00000544518.1_Missense_Mutation_p.R216C|DRD2_ENST00000542968.1_Missense_Mutation_p.R217C|DRD2_ENST00000538967.1_Missense_Mutation_p.R217C|DRD2_ENST00000535984.1_5'UTR|DRD2_ENST00000355319.2_Missense_Mutation_p.R217C|DRD2_ENST00000346454.3_Missense_Mutation_p.R217C NM_000795.3 NP_000786.1 P14416 DRD2_HUMAN dopamine receptor D2 217 Interaction with PPP1R9B (By similarity). activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning integral to plasma membrane dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 39 all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494) BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216) Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624) CGGCGTCTGCGGAGGACAATG 0.572000 49 71 0 0 1 0 0 KHDC3L 154288 broad.mit.edu 37 6 74073548 74073548 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr6:74073548C>T ENST00000370367.3 + 3 672 c.619C>T c.(619-621)Cgc>Tgc p.R207C NM_001017361.2 NP_001017361.1 KH domain containing 3-like, subcortical maternal complex member p.R207C(1) CCAGCGGTTTCGCGAGGATGC 0.622000 32 36 0 0 1 0 0 PARD3B 117583 broad.mit.edu 37 2 206023536 206023536 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr2:206023536C>T ENST00000406610.2 + 11 1732 c.1525C>T c.(1525-1527)Ctc>Ttc p.L509F PARD3B_ENST00000358768.2_Intron|PARD3B_ENST00000351153.1_Missense_Mutation_p.L509F|PARD3B_ENST00000462231.1_Missense_Mutation_p.L509F|PARD3B_ENST00000349953.3_Missense_Mutation_p.L509F NM_057177.6|NM_152526.5|NM_205863.3 NP_476518.4|NP_689739.4|NP_995585.2 Q8TEW8 PAR3L_HUMAN par-3 family cell polarity regulator beta 509 PDZ 3. 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) TTCTGCTGGCCTCGGGGTGAG 0.498000 51 41 0 0 1 0 0 RIT2 6014 broad.mit.edu 37 18 40503686 40503686 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr18:40503686C>T ENST00000589109.1 - 4 448 c.277G>A c.(277-279)Gaa>Aaa p.E93K RIT2_ENST00000326695.5_Missense_Mutation_p.E93K|RIT2_ENST00000282028.4_Missense_Mutation_p.E93K|RIT2_ENST00000590910.1_Silent_p.G113G NM_001272077.1 NP_001259006.1 Q99578 RIT2_HUMAN Ras-like without CAAX 2 93 nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission intracellular|plasma membrane calmodulin binding|GTP binding|GTPase activity endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 ATGAAGCCTTCCCCACCTCGC 0.428000 130 206 0 0 1 0 0 C12orf74 338809 broad.mit.edu 37 12 93100530 93100530 + Silent SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr12:93100530C>T ENST00000544406.2 + 2 389 c.123C>T c.(121-123)gcC>gcT p.A41A C12orf74_ENST00000397833.3_Silent_p.A41A Q32Q52 CL074_HUMAN chromosome 12 open reading frame 74 41 kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2) 10 ACCGGCAAGCCCCAGGCCGCA 0.642000 30 33 0 0 1 0 0 CCNB3 85417 broad.mit.edu 37 X 50052395 50052395 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chrX:50052395G>A ENST00000376042.1 + 6 1524 c.1226G>A c.(1225-1227)gGa>gAa p.G409E CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.G409E Q8WWL7 CCNB3_HUMAN cyclin B3 409 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle 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) ATCACCTCTGGAGAGAAGTCG 0.468000 50 50 0 0 1 0 0 PCDHB10 56126 broad.mit.edu 37 5 140572699 140572699 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr5:140572699C>T ENST00000239446.4 + 1 758 c.574C>T c.(574-576)Cca>Tca p.P192S NM_018930.3 NP_061753.1 Q9UN67 PCDBA_HUMAN 192 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 76 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CATGATATATCCAGAGCTAGT 0.507000 111 33 0 0 1 0 0 GIMAP4 55303 broad.mit.edu 37 7 150269602 150269602 + Silent SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr7:150269602C>T ENST00000255945.2 + 3 619 c.444C>T c.(442-444)ttC>ttT p.F148F GIMAP4_ENST00000494750.1_3'UTR|GIMAP4_ENST00000461940.1_Silent_p.F162F NM_018326.2 NP_060796.1 Q9NUV9 GIMA4_HUMAN GTPase, IMAP family member 4 148 GTP binding breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(82;0.0179) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CTAGAAGTTTCATGATTCTCA 0.448000 35 121 0 0 1 0 0 IER2 9592 broad.mit.edu 37 19 13264475 13264475 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr19:13264475C>T ENST00000588173.1 + 1 1687 c.475C>T c.(475-477)Cgc>Tgc p.R159C CTC-250I14.6_ENST00000592882.1_RNA|IER2_ENST00000587885.1_Missense_Mutation_p.R159C|IER2_ENST00000292433.3_Missense_Mutation_p.R159C|CTC-250I14.6_ENST00000586483.1_RNA Q9BTL4 IER2_HUMAN immediate early response 2 159 kidney(1)|lung(1)|ovary(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(19;3.41e-21) AGTCGCCGATCGCCTGCAGCC 0.687000 OREG0025291 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 23 7 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141816481 141816481 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr2:141816481C>T ENST00000389484.3 - 9 2350 c.1379G>A c.(1378-1380)cGa>cAa p.R460Q NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 460 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) TTGATAAATTCGGATTCCCCA 0.343000 TSP Lung(27;0.18) 9 34 0 0 1 0 0 GRB2 2885 broad.mit.edu 37 17 73316468 73316468 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr17:73316468G>A ENST00000392562.1 - 6 1417 c.635C>T c.(634-636)cCc>cTc p.P212L GRB2_ENST00000578961.1_Missense_Mutation_p.P156S|GRB2_ENST00000462266.1_5'UTR|GRB2_ENST00000392563.1_Missense_Mutation_p.P171L|GRB2_ENST00000392564.1_Missense_Mutation_p.P212L|GRB2_ENST00000316804.5_Missense_Mutation_p.P212L|GRB2_ENST00000316615.5_Missense_Mutation_p.P171L P62993 GRB2_HUMAN growth factor receptor-bound protein 2 212 SH3 2. axon guidance|blood coagulation|cell junction assembly|cell-cell signaling|cellular response to ionizing radiation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|receptor internalization|signal transduction in response to DNA damage|T cell costimulation cytosol|Golgi apparatus epidermal growth factor receptor binding|insulin receptor substrate binding|SH3/SH2 adaptor activity breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1) 17 all_cancers(13;5.44e-09)|all_epithelial(9;1.1e-09)|Breast(9;1.85e-09)|all_lung(278;0.222) all cancers(21;1.09e-07)|Epithelial(20;1.23e-06)|Lung(188;0.185) Pegademase bovine(DB00061) CCGGTTCACGGGGGTGACATA 0.453000 93 169 0 0 1 0 0 CCDC88B 283234 broad.mit.edu 37 11 64117137 64117137 + Silent SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr11:64117137C>T ENST00000356786.5 + 16 2903 c.2859C>T c.(2857-2859)ttC>ttT p.F953F CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000359902.2_Silent_p.F105F|CCDC88B_ENST00000301897.4_5'UTR NM_032251.5 NP_115627.6 A6NC98 CC88B_HUMAN coiled-coil domain containing 88B 953 microtubule cytoskeleton organization cytoplasm microtubule binding endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 AGGAGCTGTTCCAGGTGATGC 0.657000 3 12 0 0 1 0 0 CSF3R 1441 broad.mit.edu 37 1 36939176 36939176 + Missense_Mutation SNP A A C TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr1:36939176A>C ENST00000373103.1 - 6 1080 c.533T>G c.(532-534)gTg>gGg p.V178G CSF3R_ENST00000418048.2_Missense_Mutation_p.V178G|CSF3R_ENST00000373104.1_Missense_Mutation_p.V178G|CSF3R_ENST00000440588.2_Missense_Mutation_p.V178G|CSF3R_ENST00000331941.5_Missense_Mutation_p.V178G|CSF3R_ENST00000373106.1_Missense_Mutation_p.V178G|CSF3R_ENST00000361632.4_Missense_Mutation_p.V178G|CSF3R_ENST00000338937.5_Missense_Mutation_p.V178G NM_156039.3 NP_724781.1 Q99062 CSF3R_HUMAN colony stimulating factor 3 receptor (granulocyte) 178 Fibronectin type-III 1. cell adhesion|defense response extracellular region|integral to plasma membrane cytokine receptor activity central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) Filgrastim(DB00099)|Pegfilgrastim(DB00019) GTCCTTGGGCACGCAGTCCAG 0.612000 39 42 0 0 1 0 0 GPRIN2 9721 broad.mit.edu 37 10 46999627 46999627 + Silent SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr10:46999627C>T ENST00000374314.4 + 1 1702 c.747C>T c.(745-747)gcC>gcT p.A249A GPRIN2_ENST00000374317.1_Silent_p.A249A O60269 GRIN2_HUMAN G protein regulated inducer of neurite outgrowth 2 249 breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1) 18 GCTGCCATGCCCTACCTGCCA 0.607000 23 48 0 0 1 0 0 SERPINA4 5267 broad.mit.edu 37 14 95029918 95029918 + Missense_Mutation SNP C C A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr14:95029918C>A ENST00000557004.1 + 2 520 c.99C>A c.(97-99)aaC>aaA p.N33K SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000298841.5_Missense_Mutation_p.N33K|SERPINA4_ENST00000555095.1_Missense_Mutation_p.N33K P29622 KAIN_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 33 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1) 46 COAD - Colon adenocarcinoma(157;0.211) GTTGCAGTAACAGCTCCCACC 0.557000 37 54 2.19358e-23 2.20444e-23 1 1 0 FER1L6 654463 broad.mit.edu 37 8 124988215 124988215 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr8:124988215G>A ENST00000522917.1 + 9 967 c.761G>A c.(760-762)gGg>gAg p.G254E FER1L6_ENST00000399018.1_Missense_Mutation_p.G254E NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 254 C2 2. integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) AAAGCAGAAGGGTTGCCCAAA 0.483000 50 164 0 0 1 0 0 TRIM15 89870 broad.mit.edu 37 6 30131818 30131818 + Silent SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr6:30131818G>A ENST00000376694.4 + 1 826 c.357G>A c.(355-357)ctG>ctA p.L119L TRIM15_ENST00000376688.1_Intron NM_033229.2 NP_150232.2 Q9C019 TRI15_HUMAN tripartite motif containing 15 119 mesodermal cell fate determination intracellular zinc ion binding large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1) 14 TGGGGTTCCTGGACGAGGCCA 0.587000 24 66 0 0 1 0 0 ZNF473 25888 broad.mit.edu 37 19 50548927 50548927 + Silent SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr19:50548927G>A ENST00000595661.1 + 6 1722 c.1227G>A c.(1225-1227)ggG>ggA p.G409G ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000391821.2_Silent_p.G409G|ZNF473_ENST00000445728.3_Silent_p.G397G|ZNF473_ENST00000270617.3_Silent_p.G409G|CTD-2126E3.3_ENST00000599410.1_RNA|CTD-2126E3.3_ENST00000599914.1_RNA Q8WTR7 ZN473_HUMAN zinc finger protein 473 409 Interaction with SLBP/pre-mRNA complex. histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription Cajal body DNA binding|protein binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 37 all_neural(266;0.0459)|Ovarian(192;0.0728) GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058) ACGAACGTGGGAAATCCTTCA 0.498000 53 62 0 0 1 0 0 ARMC4 55130 broad.mit.edu 37 10 28149630 28149630 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr10:28149630G>A ENST00000305242.5 - 19 3037 c.2945C>T c.(2944-2946)gCg>gTg p.A982V ARMC4_ENST00000537576.1_Missense_Mutation_p.A674V|ARMC4_ENST00000545014.1_Missense_Mutation_p.A507V NM_018076.2 NP_060546.2 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 982 binding p.A982V(1) NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3) 75 CTGAGCTGTCGCCCGATGCAC 0.498000 42 17 0 0 1 0 0 ZCCHC12 170261 broad.mit.edu 37 X 117959966 117959966 + Silent SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chrX:117959966G>A ENST00000310164.2 + 4 1266 c.759G>A c.(757-759)ccG>ccA p.P253P NM_173798.2 NP_776159.1 Q6PEW1 ZCH12_HUMAN zinc finger, CCHC domain containing 12 253 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleic acid binding|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2) 22 GCTCCCCACCGATAGTGATCG 0.522000 31 46 0 0 1 0 0 HTR7 3363 broad.mit.edu 37 10 92508952 92508952 + Silent SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr10:92508952C>T ENST00000371721.3 - 2 1181 c.939G>A c.(937-939)agG>agA p.R313R HTR7_ENST00000371719.2_Silent_p.R313R|HTR7_ENST00000277874.6_Silent_p.R313R|HTR7_ENST00000336152.3_Silent_p.R313R P34969 5HT7R_HUMAN 5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled 313 blood circulation|circadian rhythm integral to plasma membrane protein binding|serotonin receptor activity NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246) AGATGTTTTTCCTTTCATGCT 0.527000 23 10 0 0 1 0 0 SLC1A5 6510 broad.mit.edu 37 19 47280252 47280252 + Silent SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr19:47280252G>A ENST00000542575.2 - 7 1996 c.1368C>T c.(1366-1368)atC>atT p.I456I SLC1A5_ENST00000594991.1_Silent_p.I280I|SLC1A5_ENST00000412532.2_Silent_p.I228I|SLC1A5_ENST00000434726.2_Silent_p.I254I NM_005628.2 NP_005619.1 Q15758 AAAT_HUMAN solute carrier family 1 (neutral amino acid transporter), member 5 456 cellular nitrogen compound metabolic process integral to plasma membrane|melanosome|membrane fraction neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1) 13 all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107) OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341) L-Asparagine(DB00174)|L-Glutamine(DB00130) CCACAGCCAGGATCAAGGAGA 0.617000 48 46 0 0 1 0 0 MYH15 22989 broad.mit.edu 37 3 108117498 108117498 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr3:108117498G>A ENST00000273353.3 - 36 5235 c.5179C>T c.(5179-5181)Ctt>Ttt p.L1727F NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 1727 myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 GTATAGAAAAGATTGATTCTT 0.537000 83 101 0 0 1 0 0 MSLNL 401827 broad.mit.edu 37 16 830195 830195 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr16:830195G>A ENST00000293892.3 - 3 805 c.806C>T c.(805-807)cCc>cTc p.P269L MSLNL_ENST00000442466.1_Intron Q96KJ4 MSLNL_HUMAN mesothelin-like 514 cell adhesion integral to membrane breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 36 GGTCCCGGCGGGAGCAGGGGC 0.687000 8 16 0 0 1 0 0 SCN8A 6334 broad.mit.edu 37 12 52162753 52162753 + Silent SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr12:52162753C>T ENST00000354534.5 + 17 3184 c.3006C>T c.(3004-3006)atC>atT p.I1002I SCN8A_ENST00000545061.1_Silent_p.I1002I NM_001177984.2|NM_014191.3 NP_001171455.1|NP_055006.1 Q9UQD0 SCN8A_HUMAN sodium channel, voltage gated, type VIII, alpha subunit 1002 axon guidance|myelination|peripheral nervous system development cytoplasmic membrane-bounded vesicle|node of Ranvier ATP binding|voltage-gated sodium channel activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 BRCA - Breast invasive adenocarcinoma(357;0.181) Lamotrigine(DB00555) TCTCAGTGATCCGTATCAAGA 0.537000 18 16 0 0 1 0 0 TIE1 7075 broad.mit.edu 37 1 43770680 43770680 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr1:43770680C>T ENST00000372476.3 + 2 296 c.217C>T c.(217-219)Ccg>Tcg p.P73S TIE1_ENST00000538015.1_Missense_Mutation_p.P73S|TIE1_ENST00000441333.2_Missense_Mutation_p.P73S NM_001253357.1|NM_005424.4 NP_001240286.1|NP_005415.1 P35590 TIE1_HUMAN tyrosine kinase with immunoglobulin-like and EGF-like domains 1 73 Ig-like C2-type 1. mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 70 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) CGTGCGCACCCCGCCCGGGCC 0.726000 10 15 0 0 1 0 0 NRXN1 9378 broad.mit.edu 37 2 50723127 50723127 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr2:50723127C>T ENST00000404971.1 - 16 4445 c.3106G>A c.(3106-3108)Gac>Aac p.D1036N NRXN1_ENST00000402717.3_Missense_Mutation_p.D988N|NRXN1_ENST00000401710.1_Missense_Mutation_p.D5N|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000405472.3_Missense_Mutation_p.D988N|NRXN1_ENST00000401669.2_Missense_Mutation_p.D996N|NRXN1_ENST00000406859.3_Missense_Mutation_p.D996N|NRXN1_ENST00000406316.2_Missense_Mutation_p.D996N NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 996 Laminin G-like 5. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) TTGCTGGTGTCCCTTGATATC 0.433000 6 23 0 0 1 0 0 SNCAIP 9627 broad.mit.edu 37 5 121739511 121739511 + Missense_Mutation SNP G G A rs149915358 byFrequency TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr5:121739511G>A ENST00000379538.3 + 3 287 c.35G>A c.(34-36)cGa>cAa p.R12Q SNCAIP_ENST00000379533.2_Silent_p.T74T|SNCAIP_ENST00000261367.7_Silent_p.T74T|SNCAIP_ENST00000414317.2_Missense_Mutation_p.R18Q|SNCAIP_ENST00000379536.2_Silent_p.T27T|SNCAIP_ENST00000542191.1_5'UTR|SNCAIP_ENST00000504884.2_Silent_p.T27T|SNCAIP_ENST00000503116.2_Silent_p.T74T|SNCAIP_ENST00000261368.8_Silent_p.T27T NM_001242935.1 NP_001229864.1 Q9Y6H5 SNCAP_HUMAN synuclein, alpha interacting protein 0 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 39 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) CACTCAAGACGATCCCAGAAC 0.453000 56 21 0 0 1 0 0 ADAMTSL4 54507 broad.mit.edu 37 1 150526312 150526312 + Missense_Mutation SNP G G A rs150503018 TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr1:150526312G>A ENST00000271643.4 + 6 1081 c.845G>A c.(844-846)cGa>cAa p.R282Q ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.R282Q|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.R282Q|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369038.2_Missense_Mutation_p.R282Q NM_019032.4 NP_061905.2 Q6UY14 ATL4_HUMAN ADAMTS-like 4 282 apoptosis|positive regulation of apoptosis metalloendopeptidase activity|protease binding breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3) 32 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) CCTCAGCCACGAAGGCCAAGT 0.662000 39 34 0 0 1 0 0 CLDN2 9075 broad.mit.edu 37 X 106171857 106171857 + Silent SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chrX:106171857C>T ENST00000541806.1 + 2 918 c.399C>T c.(397-399)ttC>ttT p.F133F CLDN2_ENST00000336803.1_Silent_p.F133F|CLDN2_ENST00000540876.1_Silent_p.F133F NM_001171092.1 NP_001164563.1 P57739 CLD2_HUMAN claudin 2 133 calcium-independent cell-cell adhesion integral to membrane|tight junction identical protein binding|structural molecule activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1) 9 TCCTGGGATTCATTCCTGTTG 0.517000 67 83 0 0 1 0 0 CD300LG 146894 broad.mit.edu 37 17 41939175 41939175 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr17:41939175G>A ENST00000317310.4 + 7 936 c.895G>A c.(895-897)Gaa>Aaa p.E299K NM_145273.3 NP_660316.2 Q6UXG3 CLM9_HUMAN CD300 molecule-like family member g 299 apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane receptor activity central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4) 19 Breast(137;0.0199) BRCA - Breast invasive adenocarcinoma(366;0.115) GACTGCGGAGGAAAAGGAAGC 0.602000 6 18 0 0 1 0 0 LOC283683 283683 broad.mit.edu 37 15 23114279 23114279 + RNA SNP C C A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr15:23114279C>A ENST00000557922.1 - 0 153 NR_040057.1 CCAGCTTCCTCCCAGTTCTCA 0.433000 14 17 2.31682e-05 2.31682e-05 1 1 0 GGH 8836 broad.mit.edu 37 8 63938771 63938771 + Silent SNP A A G TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr8:63938771A>G ENST00000260118.6 - 5 847 c.445T>C c.(445-447)Tta>Cta p.L149L GGH_ENST00000518113.1_5'UTR NM_003878.2 NP_003869.1 Q92820 GGH_HUMAN gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase) 149 Gamma-glutamyl hydrolase. glutamine metabolic process extracellular space|lysosome|melanosome gamma-glutamyl-peptidase activity breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(6)|stomach(1) 11 Breast(64;0.0716) all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131) Folic Acid(DB00158)|L-Glutamic Acid(DB00142) GCAGTTAATAAGCACTCTCCA 0.438000 20 44 0 0 1 0 0 NPSR1 387129 broad.mit.edu 37 7 34851465 34851465 + Silent SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr7:34851465C>T ENST00000360581.1 + 4 596 c.468C>T c.(466-468)ttC>ttT p.F156F NPSR1_ENST00000381542.1_Intron|NPSR1_ENST00000359791.1_Silent_p.F156F|NPSR1_ENST00000531252.1_Silent_p.F145F|NPSR1_ENST00000381539.3_Silent_p.F156F NM_207172.1 NP_997055.1 Q6W5P4 NPSR1_HUMAN neuropeptide S receptor 1 156 cytoplasm|integral to membrane|plasma membrane vasopressin receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7) 31 Halothane(DB01159) CCATGAAGTTCCTTCAAGGAG 0.443000 54 36 0 0 1 0 0 PREX2 80243 broad.mit.edu 37 8 68930098 68930098 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr8:68930098G>A ENST00000288368.4 + 2 436 c.159G>A c.(157-159)atG>atA p.M53I PREX2_ENST00000529398.1_3'UTR NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 53 DH. G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 TACACAGAATGAACCAGTGTG 0.373000 11 12 0 0 1 0 0 SSH2 85464 broad.mit.edu 37 17 27959445 27959445 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr17:27959445G>A ENST00000269033.3 - 15 2837 c.2686C>T c.(2686-2688)Cgt>Tgt p.R896C SSH2_ENST00000540801.1_Missense_Mutation_p.R923C|RP11-68I3.2_ENST00000581474.1_RNA NM_033389.2 NP_203747.2 Q76I76 SSH2_HUMAN slingshot protein phosphatase 2 896 actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity SSH2/SUZ12(2) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 GAATTCTTACGAGTGGACAAT 0.512000 153 209 0 0 1 0 0 TTLL12 23170 broad.mit.edu 37 22 43575640 43575640 + Silent SNP G G A rs150151819 TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr22:43575640G>A ENST00000216129.6 - 5 888 c.825C>T c.(823-825)ccC>ccT p.P275P NM_015140.3 NP_055955.1 Q14166 TTL12_HUMAN tubulin tyrosine ligase-like family, member 12 275 protein modification process tubulin-tyrosine ligase activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1) 13 Ovarian(80;0.221)|Glioma(61;0.222) AGTGCTCGGCGGGCGGCTCGG 0.617000 79 91 0 0 1 0 0 MFSD2A 84879 broad.mit.edu 37 1 40433515 40433515 + Missense_Mutation SNP A A T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr1:40433515A>T ENST00000372809.5 + 11 1317 c.1174A>T c.(1174-1176)Agt>Tgt p.S392C MFSD2A_ENST00000420632.2_Missense_Mutation_p.S223C|MFSD2A_ENST00000480630.1_3'UTR|MFSD2A_ENST00000372811.5_Missense_Mutation_p.S379C NM_001136493.1 NP_001129965.1 Q8NA29 MFS2A_HUMAN major facilitator superfamily domain containing 2A 392 transmembrane transport endoplasmic reticulum membrane|integral to membrane breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 24 CCTCATGGAGAGTAACCTCAT 0.547000 33 45 0 0 1 0 0 CHIA 27159 broad.mit.edu 37 1 111854319 111854319 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr1:111854319C>T ENST00000369740.1 + 3 137 c.34C>T c.(34-36)Ctt>Ttt p.L12F CHIA_ENST00000353665.6_5'UTR|CHIA_ENST00000451398.2_5'UTR|CHIA_ENST00000483391.1_Intron|CHIA_ENST00000430615.1_5'UTR|CHIA_ENST00000343320.6_Missense_Mutation_p.L12F NM_001258001.1|NM_201653.3 NP_001244930.1|NP_970615.2 Q9BZP6 CHIA_HUMAN chitinase, acidic 12 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) AGGTCTTGTCCTTATACTGAA 0.383000 70 111 0 0 1 0 0 ARFGAP2 84364 broad.mit.edu 37 11 47193054 47193054 + Silent SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr11:47193054C>T ENST00000524782.1 - 10 1092 c.864G>A c.(862-864)gaG>gaA p.E288E ARFGAP2_ENST00000426335.2_Silent_p.E152E|ARFGAP2_ENST00000395449.3_5'UTR|ARFGAP2_ENST00000319543.6_Silent_p.E19E|ARFGAP2_ENST00000419701.2_Silent_p.E181E NM_001242832.1|NM_032389.4 NP_001229761.1|NP_115765.2 Q8N6H7 ARFG2_HUMAN ADP-ribosylation factor GTPase activating protein 2 288 Required for interaction with coatomer. protein transport|regulation of ARF GTPase activity|vesicle-mediated transport Golgi membrane|nucleolus|plasma membrane ARF GTPase activator activity|zinc ion binding breast(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 GCTTCTTTTCCTCTTTCTTAC 0.567000 52 85 0 0 1 0 0 CYFIP2 26999 broad.mit.edu 37 5 156746815 156746815 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr5:156746815G>A ENST00000347377.6 + 14 1833 c.1402G>A c.(1402-1404)Gag>Aag p.E468K CYFIP2_ENST00000318218.6_Missense_Mutation_p.E468K|CYFIP2_ENST00000377576.3_Missense_Mutation_p.E468K|CYFIP2_ENST00000541131.1_Missense_Mutation_p.E393K|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000435847.2_Missense_Mutation_p.E142K|CYFIP2_ENST00000522463.1_Missense_Mutation_p.E272K|CYFIP2_ENST00000521420.1_Missense_Mutation_p.E442K NM_001037332.2 NP_001032409.2 Q96F07 CYFP2_HUMAN cytoplasmic FMR1 interacting protein 2 468 apoptosis|cell-cell adhesion cell junction|perinuclear region of cytoplasm|synapse|synaptosome protein binding breast(1)|endometrium(12)|kidney(2)|lung(23) 38 Renal(175;0.00212) Medulloblastoma(196;0.0306)|all_neural(177;0.0897) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GGGCAGGATGGAGAGCGTCTT 0.607000 50 9 0 0 1 0 0 ITPR3 3710 broad.mit.edu 37 6 33652667 33652667 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr6:33652667G>A ENST00000374316.5 + 40 6314 c.5254G>A c.(5254-5256)Gag>Aag p.E1752K ITPR3_ENST00000605930.1_Missense_Mutation_p.E1752K Q14573 ITPR3_HUMAN inositol 1,4,5-trisphosphate receptor, type 3 1752 activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 GATCTTCCAGGAGAGCATCGG 0.632000 53 120 0 0 1 0 0 NPAP1 23742 broad.mit.edu 37 15 24921298 24921298 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr15:24921298G>A ENST00000329468.2 + 1 758 c.284G>A c.(283-285)aGg>aAg p.R95K NM_018958.2 NP_061831.2 nuclear pore associated protein 1 CTGGCCATCAGGAAGACACCC 0.672000 21 23 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 215847452 215847452 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr1:215847452G>A ENST00000366943.2 - 63 14187 c.13801C>T c.(13801-13803)Cca>Tca p.P4601S USH2A_ENST00000307340.3_Missense_Mutation_p.P4601S O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 4601 Fibronectin type-III 31. 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) CTGTGAAATGGCTTCAGCTGG 0.393000 HNSCC(13;0.011) 100 84 0 0 1 0 0 TAS2R60 338398 broad.mit.edu 37 7 143140996 143140996 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr7:143140996C>T ENST00000332690.1 + 1 451 c.451C>T c.(451-453)Ctc>Ttc p.L151F EPHA1-AS1_ENST00000429289.1_RNA NM_177437.1 NP_803186.1 P59551 T2R60_HUMAN taste receptor, type 2, member 60 151 sensory perception of bitter taste integral to membrane G-protein coupled receptor activity breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2) 31 Melanoma(164;0.172) CTCTGTAGGGCTCTCCAGCTT 0.453000 149 90 0 0 1 0 0 SUSD4 55061 broad.mit.edu 37 1 223465884 223465884 + Missense_Mutation SNP T T G TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr1:223465884T>G ENST00000343846.3 - 2 891 c.258A>C c.(256-258)caA>caC p.Q86H SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000366878.4_Missense_Mutation_p.Q86H|SUSD4_ENST00000454695.2_5'UTR|SUSD4_ENST00000344029.6_Missense_Mutation_p.Q86H Q5VX71 SUSD4_HUMAN sushi domain containing 4 86 Sushi 1. integral to membrane cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1) 17 GBM - Glioblastoma multiforme(131;0.0611) TGAATCCGTCTTGGCAGTGAA 0.512000 82 88 0 0 1 0 0 AOC3 8639 broad.mit.edu 37 17 41008456 41008456 + Silent SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr17:41008456G>A ENST00000308423.2 + 4 2341 c.2181G>A c.(2179-2181)ggG>ggA p.G727G AOC3_ENST00000591562.1_Silent_p.G184G NM_003734.2 NP_003725.1 Q16853 AOC3_HUMAN amine oxidase, copper containing 3 727 amine metabolic process|cell adhesion|inflammatory response cell surface|integral to membrane|plasma membrane aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8) 41 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.156) Hydralazine(DB01275)|Phenelzine(DB00780) ACTTCCGAGGGGACCAGGATG 0.632000 29 35 0 0 1 0 0 CAPZA3 93661 broad.mit.edu 37 12 18891340 18891340 + Silent SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr12:18891340C>T ENST00000317658.3 + 1 296 c.138C>T c.(136-138)caC>caT p.H46H NM_033328.2 NP_201585.1 Q96KX2 CAZA3_HUMAN capping protein (actin filament) muscle Z-line, alpha 3 46 actin cytoskeleton organization|actin filament capping F-actin capping protein complex actin binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1) 19 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) Hepatocellular(102;0.194) TTATGCACCACCAAGGTGAGT 0.458000 39 39 0 0 1 0 0 ZNF578 147660 broad.mit.edu 37 19 53014536 53014536 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr19:53014536C>T ENST00000421239.2 + 6 1146 c.902C>T c.(901-903)tCc>tTc p.S301F CTD-3099C6.5_ENST00000599143.1_RNA NM_001099694.1 NP_001093164.1 Q96N58 ZN578_HUMAN zinc finger protein 578 76 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01) TACAAGTCATCCCTGACATGC 0.418000 59 72 0 0 1 0 0 ZC3H12A 80149 broad.mit.edu 37 1 37941127 37941127 + Silent SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr1:37941127C>T ENST00000373087.6 + 2 146 c.30C>T c.(28-30)gtC>gtT p.V10V NM_025079.2 NP_079355.2 Q5D1E8 ZC12A_HUMAN zinc finger CCCH-type containing 12A 10 angiogenesis|apoptosis|cell differentiation cytoplasm|nucleus|plasma membrane endonuclease activity|metal ion binding NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) AGAAGCCTGTCCTGGAAGCCA 0.617000 81 86 0 0 1 0 0 NOS1 4842 broad.mit.edu 37 12 117658007 117658007 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr12:117658007C>T ENST00000317775.6 - 27 4728 c.4043G>A c.(4042-4044)gGg>gAg p.G1348E NOS1_ENST00000338101.4_Missense_Mutation_p.G1382E|NOS1_ENST00000344089.3_3'UTR NM_000620.4|NM_001204218.1 NP_000611.1|NP_001191147.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 1348 multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) TATGTGGCCCCCTTGCTCCTT 0.602000 52 132 0 0 1 0 0 FIBIN 387758 broad.mit.edu 37 11 27016471 27016471 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr11:27016471C>T ENST00000318627.2 + 1 844 c.398C>T c.(397-399)tCg>tTg p.S133L NM_203371.1 NP_976249.1 Q8TAL6 FIBIN_HUMAN fin bud initiation factor homolog (zebrafish) 133 extracellular region|Golgi apparatus breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1) 11 TACTCCAACTCGGACAAATCC 0.582000 34 48 0 0 1 0 0 PTCHD1 139411 broad.mit.edu 37 X 23411506 23411506 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chrX:23411506C>T ENST00000379361.4 + 3 2731 c.1871C>T c.(1870-1872)tCa>tTa p.S624L NM_173495.2 NP_775766.2 Q96NR3 PTHD1_HUMAN patched domain containing 1 624 cognition|smoothened signaling pathway integral to membrane|plasma membrane hedgehog receptor activity NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2) 42 CCTCAATTTTCACATTTTCAA 0.383000 48 57 0 0 1 0 0 CAD 790 broad.mit.edu 37 2 27456286 27456286 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr2:27456286G>A ENST00000264705.4 + 20 3260 c.3098G>A c.(3097-3099)cGg>cAg p.R1033Q CAD_ENST00000403525.1_Missense_Mutation_p.R970Q NM_004341.3 NP_004332.2 P27708 PYR1_HUMAN carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase 1033 CPSase (Carbamoyl-phosphate synthase).|CPSase B. 'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process cytosol|neuronal cell body|nuclear matrix|terminal button aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity p.R1033Q(1) NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 92 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) L-Aspartic Acid(DB00128)|L-Glutamine(DB00130) CAGCAGTGCCGGGTGCTGGGC 0.572000 3 42 0 0 1 0 0 ZKSCAN2 342357 broad.mit.edu 37 16 25251253 25251253 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr16:25251253G>A ENST00000328086.7 - 7 3591 c.2788C>T c.(2788-2790)Ctt>Ttt p.L930F NM_001012981.4 NP_001012999.3 Q63HK3 ZKSC2_HUMAN zinc finger with KRAB and SCAN domains 2 930 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1) 36 GBM - Glioblastoma multiforme(48;0.0378) TGTTTGGTAAGAACAGAACTC 0.458000 36 58 0 0 1 0 0 DEFB128 245939 broad.mit.edu 37 20 168710 168710 + Silent SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr20:168710C>T ENST00000334391.4 - 2 156 c.99G>A c.(97-99)agG>agA p.R33R NM_001037732.1 NP_001032821.1 Q7Z7B8 DB128_HUMAN defensin, beta 128 33 defense response to bacterium extracellular region breast(1)|endometrium(1)|large_intestine(1)|lung(2) 5 all_cancers(10;0.00499)|Lung NSC(37;0.227) OV - Ovarian serous cystadenocarcinoma(29;0.122) TGCATTTCTTCCTGCAATAGC 0.378000 106 110 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196682499 196682499 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr2:196682499C>T ENST00000312428.6 - 50 9446 c.9346G>A c.(9346-9348)Gga>Aga p.G3116R NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3116 AAA 5 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 ACCACAATTCCCAGAAGCTGA 0.328000 7 20 0 0 1 0 0 SBF1 6305 broad.mit.edu 37 22 50895538 50895538 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr22:50895538G>A ENST00000380817.2 - 29 4012 c.3829C>T c.(3829-3831)Ccc>Tcc p.P1277S SBF1_ENST00000390679.3_Intron|SBF1_ENST00000348911.6_Intron|SBF1_ENST00000476293.1_5'UTR NM_002972.2 NP_002963.2 O95248 MTMR5_HUMAN SET binding factor 1 1275 Myotubularin phosphatase. protein dephosphorylation integral to membrane|nucleus protein tyrosine/serine/threonine phosphatase activity breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 43 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;0.206)|LUAD - Lung adenocarcinoma(64;0.247) CTGGGGCTGGGAACTGAGGGC 0.697000 7 7 0 0 1 0 0 PRKCH 5583 broad.mit.edu 37 14 61919987 61919987 + Silent SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr14:61919987C>T ENST00000332981.5 + 7 1261 c.876C>T c.(874-876)gcC>gcT p.A292A PRKCH_ENST00000555082.1_Silent_p.A131A NM_006255.3 NP_006246.2 P24723 KPCL_HUMAN protein kinase C, eta 292 intracellular signal transduction|platelet activation cytosol|plasma membrane ATP binding|enzyme binding|metal ion binding|protein kinase C activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 25 OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182) CGAACGTGGCCCCTAACTGTG 0.463000 36 46 0 0 1 0 0 SLCO4C1 353189 broad.mit.edu 37 5 101599431 101599431 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr5:101599431C>T ENST00000310954.6 - 4 1142 c.856G>A c.(856-858)Gga>Aga p.G286R NM_180991.4 NP_851322.3 Q6ZQN7 SO4C1_HUMAN solute carrier organic anion transporter family, member 4C1 286 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) AGCAGTTGTCCTCCCAATACA 0.363000 52 10 0 0 1 0 0 FLVCR1 28982 broad.mit.edu 37 1 213061837 213061837 + Silent SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr1:213061837C>T ENST00000366971.4 + 7 1512 c.1314C>T c.(1312-1314)ttC>ttT p.F438F FLVCR1_ENST00000483790.1_3'UTR NM_014053.3 NP_054772.1 Q9Y5Y0 FLVC1_HUMAN feline leukemia virus subgroup C cellular receptor 1 438 cell death|cellular iron ion homeostasis|heme export|transmembrane transport integral to plasma membrane heme transporter activity|protein binding|receptor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2) 12 OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11) CTAGCTTCTTCATGACTGGTT 0.398000 37 46 0 0 1 0 0 NDST4 64579 broad.mit.edu 37 4 115997941 115997941 + Silent SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr4:115997941C>T ENST00000264363.2 - 2 930 c.252G>A c.(250-252)gtG>gtA p.V84V NM_022569.1 NP_072091.1 Q9H3R1 NDST4_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 84 Heparan sulfate N-deacetylase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) ATTGGCTCTCCACGAAGAGAA 0.428000 34 37 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228444593 228444593 + Silent SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr1:228444593G>A ENST00000570156.2 + 16 4901 c.4827G>A c.(4825-4827)ggG>ggA p.G1609G OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000359599.6_Silent_p.G81G|OBSCN_ENST00000284548.11_Silent_p.G1517G|OBSCN_ENST00000422127.1_Silent_p.G1517G NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 590 Ig-like 16. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GCGAGGCGGGGAGCCAGCGGC 0.647000 69 60 0 0 1 0 0 NPAP1 23742 broad.mit.edu 37 15 24921299 24921299 + Silent SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr15:24921299G>A ENST00000329468.2 + 1 759 c.285G>A c.(283-285)agG>agA p.R95R NM_018958.2 NP_061831.2 nuclear pore associated protein 1 TGGCCATCAGGAAGACACCCA 0.667000 21 25 0 0 1 0 0 IGKV1-12 28940 broad.mit.edu 37 2 89340012 89340012 + RNA SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr2:89340012G>A ENST00000480492.1 - 0 106 TGTCGCATCTGGAACCTGAGA 0.463000 48 110 0 0 1 0 0 HECTD4 283450 broad.mit.edu 37 12 112673351 112673351 + Silent SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr12:112673351G>A ENST00000550722.1 - 36 5639 c.5244C>T c.(5242-5244)atC>atT p.I1748I HECTD4_ENST00000430131.2_Silent_p.I1472I|HECTD4_ENST00000377560.5_Silent_p.I1722I NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 GCAGGGAGGCGATCTTGGAAG 0.562000 32 23 0 0 1 0 0 IGKV1-8 28942 broad.mit.edu 37 2 89292043 89292043 + RNA SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr2:89292043C>T ENST00000495489.1 - 0 282 TGATGGGACCCCACTTTGCAA 0.493000 56 166 0 0 1 0 0 SYNJ2 8871 broad.mit.edu 37 6 158505046 158505046 + Silent SNP A A G TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr6:158505046A>G ENST00000355585.4 + 22 3123 c.3048A>G c.(3046-3048)gaA>gaG p.E1016E SYNJ2_ENST00000367112.1_Silent_p.E101E|SYNJ2_ENST00000367122.2_Silent_p.E1016E|SYNJ2_ENST00000367121.3_Silent_p.E1016E NM_001178088.1|NM_003898.3 NP_001171559.1|NP_003889.1 O15056 SYNJ2_HUMAN synaptojanin 2 1016 nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05) ATATTCTTGAAGACGATGAAG 0.522000 166 53 0 0 1 0 0 GPR158 57512 broad.mit.edu 37 10 25887805 25887805 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr10:25887805G>A ENST00000376351.3 + 11 3609 c.3250G>A c.(3250-3252)Gat>Aat p.D1084N GPR158_ENST00000490549.1_3'UTR NM_020752.2 NP_065803.2 Q5T848 GP158_HUMAN G protein-coupled receptor 158 1084 integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 CATTTTGGAAGATGAGAAGCT 0.512000 38 14 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41559180 41559180 + Missense_Mutation SNP G G T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr21:41559180G>T ENST00000400454.1 - 14 3134 c.2657C>A c.(2656-2658)cCa>cAa p.P886Q NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 886 Fibronectin type-III 1. 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) GGGAGGGTCTGGGGGCTCTGT 0.478000 6 45 5.9392e-07 5.94897e-07 1 1 0 KIAA0195 9772 broad.mit.edu 37 17 73488620 73488620 + Silent SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr17:73488620G>A ENST00000314256.7 + 15 2056 c.1662G>A c.(1660-1662)gaG>gaA p.E554E KIAA0195_ENST00000375248.5_Silent_p.E564E|KIAA0195_ENST00000579208.1_Silent_p.E205E NM_014738.4 NP_055553.3 Q12767 K0195_HUMAN KIAA0195 554 ATP biosynthetic process|cation transport integral to membrane ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1) 42 all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246) all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) ACCACCTGGAGATGCTGAGCC 0.607000 29 48 0 0 1 0 0 RPTN 126638 broad.mit.edu 37 1 152128293 152128293 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr1:152128293C>T ENST00000316073.3 - 3 1346 c.1282G>A c.(1282-1284)Ggt>Agt p.G428S NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 428 Gln-rich. proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 TCTGTCTGACCGTAGTGAGAA 0.522000 478 860 0 0 1 0 0 PARM1 25849 broad.mit.edu 37 4 75959144 75959144 + Missense_Mutation SNP T T C TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr4:75959144T>C ENST00000307428.7 + 3 1033 c.821T>C c.(820-822)tTt>tCt p.F274S RP11-44F21.2_ENST00000513770.1_RNA|PARM1_ENST00000513238.1_Missense_Mutation_p.F32S NM_015393.3 NP_056208.2 Q6UWI2 PARM1_HUMAN prostate androgen-regulated mucin-like protein 1 274 positive regulation of telomerase activity early endosome|endosome membrane|Golgi membrane|integral to membrane|late endosome|plasma membrane cervix(1)|endometrium(2)|lung(4)|ovary(1) 8 CTGCTGGTGTTTGGAGTTGCA 0.512000 5 8 0 0 1 0 0 FANCM 57697 broad.mit.edu 37 14 45624018 45624018 + Silent SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr14:45624018C>T ENST00000267430.5 + 7 1387 c.1302C>T c.(1300-1302)atC>atT p.I434I FANCM_ENST00000556036.1_Silent_p.I434I|FANCM_ENST00000542564.2_Silent_p.I408I NM_020937.2 NP_065988.1 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 434 DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 85 TTTCTGCTATCCAACAAGGTC 0.328000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 13 47 0 0 1 0 0 DSE 29940 broad.mit.edu 37 6 116580085 116580085 + Missense_Mutation SNP T T C TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr6:116580085T>C ENST00000540275.1 + 2 600 c.479T>C c.(478-480)cTg>cCg p.L160P Q9UL01 DSE_HUMAN dermatan sulfate epimerase 0 dermatan sulfate biosynthetic process endoplasmic reticulum|Golgi apparatus|integral to membrane chondroitin-glucuronate 5-epimerase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234) Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262) AATGGGACACTGAGCTTTGTG 0.507000 9 14 0 0 1 0 0 C2orf62 375307 broad.mit.edu 37 2 219222367 219222367 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr2:219222367G>A ENST00000289388.3 + 3 258 c.229G>A c.(229-231)Gaa>Aaa p.E77K AC021016.8_ENST00000411433.1_RNA NM_198559.1 NP_940961.1 Q7Z7H3 CB062_HUMAN chromosome 2 open reading frame 62 77 endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 16 Renal(207;0.0915) Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GAAATACCAGGAAAAACTCGG 0.552000 12 46 0 0 1 0 0 PTPRT 11122 broad.mit.edu 37 20 40733246 40733246 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr20:40733246G>A ENST00000373198.3 - 26 3804 c.3569C>T c.(3568-3570)cCc>cTc p.P1190L PTPRT_ENST00000373201.1_Missense_Mutation_p.P1158L|PTPRT_ENST00000373187.1_Missense_Mutation_p.P1168L|PTPRT_ENST00000373193.3_Missense_Mutation_p.P1171L|PTPRT_ENST00000373184.1_Missense_Mutation_p.P1178L|PTPRT_ENST00000373190.1_Missense_Mutation_p.P1167L|PTPRT_ENST00000356100.2_Missense_Mutation_p.P1177L NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 1168 Tyrosine-protein phosphatase 2. R -> W (in a colorectal cancer; reduced phosphatase activity). homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) GTTTGTCTGGGGGTCCAGCCT 0.483000 69 85 0 0 1 0 0 ABLIM2 84448 broad.mit.edu 37 4 8021971 8021971 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr4:8021971G>A ENST00000296372.8 - 12 1370 c.1228C>T c.(1228-1230)Ccc>Tcc p.P410S ABLIM2_ENST00000361737.5_Intron|ABLIM2_ENST00000447017.2_Missense_Mutation_p.P443S|ABLIM2_ENST00000407564.3_Intron|ABLIM2_ENST00000318888.4_Intron|ABLIM2_ENST00000428004.2_Intron|ABLIM2_ENST00000341937.5_Missense_Mutation_p.P410S|ABLIM2_ENST00000515079.1_5'UTR|ABLIM2_ENST00000505872.1_Intron|ABLIM2_ENST00000545242.1_Missense_Mutation_p.P410S|ABLIM2_ENST00000361581.5_Missense_Mutation_p.P410S|ABLIM2_ENST00000514025.1_Intron|ABLIM2_ENST00000546334.1_Intron Q6H8Q1 ABLM2_HUMAN actin binding LIM protein family, member 2 410 axon guidance|cytoskeleton organization actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus actin binding|zinc ion binding NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1) 25 TAGGTGGAGGGGGGCGGCTTG 0.627000 21 33 0 0 1 0 0 NELL2 4753 broad.mit.edu 37 12 44915955 44915955 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr12:44915955C>T ENST00000429094.2 - 18 2507 c.2003G>A c.(2002-2004)gGa>gAa p.G668E NELL2_ENST00000551601.1_Missense_Mutation_p.G620E|NELL2_ENST00000549027.1_Missense_Mutation_p.G667E|NELL2_ENST00000395487.2_Missense_Mutation_p.G667E|NELL2_ENST00000452445.2_Missense_Mutation_p.G668E|NELL2_ENST00000437801.2_Missense_Mutation_p.G718E|NELL2_ENST00000333837.4_Missense_Mutation_p.G691E NM_001145108.1 NP_001138580.1 Q99435 NELL2_HUMAN NEL-like 2 (chicken) 668 VWFC 3. cell adhesion extracellular region calcium ion binding|protein binding|structural molecule activity p.G718E(1)|p.G668E(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 Lung SC(27;0.192) Lung NSC(34;0.144) GBM - Glioblastoma multiforme(48;0.092) CATAACGAATCCATTCTGTAT 0.443000 18 21 0 0 1 0 0 P4HA3 283208 broad.mit.edu 37 11 73997411 73997411 + Silent SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr11:73997411C>T ENST00000331597.4 - 6 840 c.795G>A c.(793-795)agG>agA p.R265R P4HA3_ENST00000427714.2_Silent_p.R265R NM_182904.3 NP_878907.1 Q7Z4N8 P4HA3_HUMAN prolyl 4-hydroxylase, alpha polypeptide III 265 endoplasmic reticulum lumen iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1) 15 Breast(11;2.31e-05) TCAAGACATTCCTGGCCATCC 0.502000 71 97 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179664277 179664277 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr2:179664277G>A ENST00000589042.1 - 6 1075 c.851C>T c.(850-852)tCg>tTg p.S284L TTN_ENST00000342175.6_Missense_Mutation_p.S284L|TTN_ENST00000359218.5_Missense_Mutation_p.S284L|TTN_ENST00000591111.1_Missense_Mutation_p.S284L|TTN_ENST00000460472.2_Missense_Mutation_p.S284L|TTN_ENST00000342992.6_Missense_Mutation_p.S284L|TTN_ENST00000360870.5_Missense_Mutation_p.S284L NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 284 ZIS1. 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) TCTTATGGGCGATGGGGACTG 0.562000 17 36 0 0 1 0 0 PDGFRA 5156 broad.mit.edu 37 4 55127427 55127427 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr4:55127427G>A ENST00000257290.5 + 3 546 c.215G>A c.(214-216)aGa>aAa p.R72K PDGFRA_ENST00000508170.1_Missense_Mutation_p.R72K|FIP1L1_ENST00000507166.1_Intron NM_006206.4 NP_006197.1 P16234 PGFRA_HUMAN platelet-derived growth factor receptor, alpha polypeptide 72 Ig-like C2-type 1. cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1) 967 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) GTGGAAATCAGAAATGAAGAA 0.498000 """Mis, O, T""" FIP1L1 """GIST, idiopathic hypereosinophilic syndrome, paediatric GBM""" Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis TSP Lung(21;0.16) 71 106 0 0 1 0 0 TLL2 7093 broad.mit.edu 37 10 98188433 98188433 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr10:98188433C>T ENST00000357947.3 - 5 818 c.593G>A c.(592-594)aGg>aAg p.R198K TLL2_ENST00000469598.1_5'UTR NM_012465.3 NP_036597.1 Q9Y6L7 TLL2_HUMAN tolloid-like 2 198 Metalloprotease (By similarity). cell differentiation|multicellular organismal development|proteolysis extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 58 Colorectal(252;0.0846) Epithelial(162;1.51e-07)|all cancers(201;7.59e-06) CTCATCCGTCCTTTCTATGAA 0.493000 41 8 0 0 1 0 0 OR1N2 138882 broad.mit.edu 37 9 125316101 125316101 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr9:125316101C>T ENST00000373688.2 + 1 711 c.653C>T c.(652-654)aCc>aTc p.T218I NM_001004457.1 NP_001004457.1 Q8NGR9 OR1N2_HUMAN olfactory receptor, family 1, subfamily N, member 2 218 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3) 26 ATGATCATCACCATGGGCTTG 0.502000 96 144 0 0 1 0 0 EPHA8 2046 broad.mit.edu 37 1 22902811 22902811 + Silent SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr1:22902811C>T ENST00000166244.3 + 3 333 c.261C>T c.(259-261)agC>agT p.S87S EPHA8_ENST00000538803.1_Silent_p.S87S|EPHA8_ENST00000374644.4_Silent_p.S87S NM_020526.3 NP_065387.1 P29322 EPHA8_HUMAN EPH receptor A8 87 integral to plasma membrane ATP binding|ephrin receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) TGCGCACGAGCTGGGTCCCCC 0.617000 54 77 0 0 1 0 0 SLC2A3 6515 broad.mit.edu 37 12 8082387 8082387 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr12:8082387C>T ENST00000075120.7 - 6 994 c.754G>A c.(754-756)Gaa>Aaa p.E252K NM_006931.2 NP_008862.1 P11169 GTR3_HUMAN solute carrier family 2 (facilitated glucose transporter), member 3 252 carbohydrate metabolic process|water-soluble vitamin metabolic process integral to membrane|plasma membrane D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Kidney(36;0.0866) ACTTGCTTTTCTTGTGACATC 0.507000 13 67 0 0 1 0 0 CYBB 1536 broad.mit.edu 37 X 37653049 37653049 + Nonsense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chrX:37653049C>T ENST00000378588.4 + 5 536 c.469C>T c.(469-471)Cga>Tga p.R157* CYBB_ENST00000545017.1_Nonsense_Mutation_p.R125*|CYBB_ENST00000536160.1_Intron|TM4SF2_ENST00000465127.1_Intron NM_000397.3 NP_000388.2 P04839 CY24B_HUMAN cytochrome b-245, beta polypeptide 157 Ferric oxidoreductase. electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation NADPH oxidase complex electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2) 32 CAATTTTGCTCGAAAGAGAAT 0.398000 37 41 0 0 1 0 0 TG 7038 broad.mit.edu 37 8 134144186 134144186 + Missense_Mutation SNP T T C TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr8:134144186T>C ENST00000220616.4 + 46 8033 c.7993T>C c.(7993-7995)Tca>Cca p.S2665P TG_ENST00000542445.1_Missense_Mutation_p.S1035P|TG_ENST00000519543.1_Missense_Mutation_p.S798P|TG_ENST00000377869.1_Missense_Mutation_p.S2608P NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 2665 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) CTTCATCAGATCAGGGTAATT 0.493000 24 74 0 0 1 0 0 DACH2 117154 broad.mit.edu 37 X 85994853 85994853 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chrX:85994853C>T ENST00000373131.1 + 6 1332 c.1169C>T c.(1168-1170)cCc>cTc p.P390L DACH2_ENST00000477378.2_3'UTR|DACH2_ENST00000510272.1_Missense_Mutation_p.P184L|DACH2_ENST00000508860.1_Missense_Mutation_p.P236L|DACH2_ENST00000373125.4_Missense_Mutation_p.P403L NM_001139514.1 NP_001132986.1 Q96NX9 DACH2_HUMAN dachshund homolog 2 (Drosophila) 403 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|nucleotide binding p.P403L(1)|p.P390L(1) breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 71 TCCAGCTCTCCCTCTCAGATG 0.453000 10 15 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414346 20414346 + Silent SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr9:20414346G>A ENST00000380338.4 - 5 784 c.498C>T c.(496-498)agC>agT p.S166S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S163S|MLLT3_ENST00000355930.6_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 166 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S166S(4) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctactgctgctgctgc 0.527000 T MLL ALL 4 68 0 0 1 0 0 ANKRD30B 374860 broad.mit.edu 37 18 14852066 14852066 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr18:14852066G>A ENST00000358984.4 + 36 3946 c.3766G>A c.(3766-3768)Gaa>Aaa p.E1256K NM_001145029.1 NP_001138501.1 Q9BXX2 AN30B_HUMAN ankyrin repeat domain 30B 1341 breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1) 22 TGATCTAAGAGAAAATGCATT 0.348000 10 13 0 0 1 0 0 ALDH1L2 160428 broad.mit.edu 37 12 105428098 105428098 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr12:105428098C>T ENST00000258494.9 - 19 2364 c.2224G>A c.(2224-2226)Gac>Aac p.D742N C12orf45_ENST00000548583.1_Intron NM_001034173.3 NP_001029345.2 Q3SY69 AL1L2_HUMAN aldehyde dehydrogenase 1 family, member L2 742 Aldehyde dehydrogenase. 10-formyltetrahydrofolate catabolic process|biosynthetic process mitochondrion acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2) 35 ACAAATTCGTCGTGGATGGAT 0.418000 13 16 0 0 1 0 0 EHMT1 79813 broad.mit.edu 37 9 140622918 140622918 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr9:140622918C>T ENST00000460843.1 + 4 787 c.760C>T c.(760-762)Cca>Tca p.P254S EHMT1_ENST00000334856.6_Missense_Mutation_p.P223S|EHMT1_ENST00000462484.1_Missense_Mutation_p.P254S|EHMT1_ENST00000371394.2_3'UTR NM_024757.4 NP_079033.4 Q9H9B1 EHMT1_HUMAN euchromatic histone-lysine N-methyltransferase 1 254 DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 41 all_cancers(76;0.164) OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728) ACCCCCCTTCCCATCCCTTCA 0.473000 53 68 0 0 1 0 0 ANKS1B 56899 broad.mit.edu 37 12 100169397 100169397 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr12:100169397G>A ENST00000547776.2 - 7 889 c.890C>T c.(889-891)cCt>cTt p.P297L ANKS1B_ENST00000329257.7_Missense_Mutation_p.P297L|ANKS1B_ENST00000547010.1_Intron NM_152788.4 NP_690001.3 Q7Z6G8 ANS1B_HUMAN ankyrin repeat and sterile alpha motif domain containing 1B 297 Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1) 70 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) TTCCTGTACAGGCTCTTCGAG 0.363000 8 20 0 0 1 0 0 OSBPL3 26031 broad.mit.edu 37 7 24874229 24874229 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr7:24874229G>A ENST00000313367.2 - 15 2073 c.1622C>T c.(1621-1623)tCc>tTc p.S541F OSBPL3_ENST00000431825.2_Missense_Mutation_p.S474F|OSBPL3_ENST00000352860.1_Missense_Mutation_p.S510F|OSBPL3_ENST00000396429.1_Missense_Mutation_p.S505F|OSBPL3_ENST00000353930.1_Missense_Mutation_p.S505F|OSBPL3_ENST00000409069.1_Missense_Mutation_p.S474F|OSBPL3_ENST00000396431.1_Missense_Mutation_p.S510F NM_015550.2 NP_056365.1 Q9H4L5 OSBL3_HUMAN oxysterol binding protein-like 3 541 lipid transport lipid binding|protein binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1) 43 GGCCACCTTGGACAGGTCCTT 0.637000 89 72 0 0 1 0 0 SESN3 143686 broad.mit.edu 37 11 94918623 94918623 + Silent SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr11:94918623G>A ENST00000536441.1 - 5 895 c.559C>T c.(559-561)Ctg>Ttg p.L187L SESN3_ENST00000278499.2_Silent_p.L48L|SESN3_ENST00000393234.1_Silent_p.L187L|SESN3_ENST00000416495.2_Silent_p.L187L|RP11-712B9.2_ENST00000534864.1_RNA|RP11-712B9.2_ENST00000534891.1_RNA NM_001271594.1|NM_144665.2 NP_001258523.1|NP_653266.2 P58005 SESN3_HUMAN sestrin 3 187 cell cycle arrest nucleus endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1) 16 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) BRCA - Breast invasive adenocarcinoma(274;0.234) AGTTCAGGCAGAGACCAATTA 0.363000 56 87 0 0 1 0 0 PHACTR3 116154 broad.mit.edu 37 20 58348435 58348435 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr20:58348435C>T ENST00000371015.1 + 6 1320 c.853C>T c.(853-855)Cac>Tac p.H285Y PHACTR3_ENST00000355648.4_Missense_Mutation_p.H244Y|PHACTR3_ENST00000541461.1_Missense_Mutation_p.H244Y|PHACTR3_ENST00000361300.4_Missense_Mutation_p.H174Y|PHACTR3_ENST00000359926.3_Missense_Mutation_p.H282Y|PHACTR3_ENST00000395639.4_Missense_Mutation_p.H174Y|PHACTR3_ENST00000395636.2_Missense_Mutation_p.H244Y NM_080672.3 NP_542403.1 Q96KR7 PHAR3_HUMAN phosphatase and actin regulator 3 285 nuclear matrix actin binding|protein phosphatase inhibitor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 59 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;2.76e-09) CACCACGGTCCACCGGCCTCT 0.672000 38 57 0 0 1 0 0 ARMC3 219681 broad.mit.edu 37 10 23270289 23270289 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr10:23270289C>T ENST00000298032.5 + 9 1021 c.937C>T c.(937-939)Cat>Tat p.H313Y ARMC3_ENST00000409049.3_Missense_Mutation_p.H313Y|ARMC3_ENST00000409983.3_Missense_Mutation_p.H313Y|ARMC3_ENST00000376528.4_Missense_Mutation_p.H50Y NM_173081.3 NP_775104.2 Q5W041 ARMC3_HUMAN armadillo repeat containing 3 313 binding breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 AAAACTTTTTCATGAACAAGA 0.353000 7 4 0 0 1 0 0 GPRIN2 9721 broad.mit.edu 37 10 46999626 46999626 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr10:46999626C>T ENST00000374314.4 + 1 1701 c.746C>T c.(745-747)gCc>gTc p.A249V GPRIN2_ENST00000374317.1_Missense_Mutation_p.A249V O60269 GRIN2_HUMAN G protein regulated inducer of neurite outgrowth 2 249 breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1) 18 TGCTGCCATGCCCTACCTGCC 0.607000 23 48 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 16 71012930 71012930 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr16:71012930C>T ENST00000393567.2 - 30 4675 c.4525G>A c.(4525-4527)Gaa>Aaa p.E1509K NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 1509 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) AAGAACATTTCATACTTTTCA 0.418000 14 48 0 0 1 0 0 PCDHGA8 9708 broad.mit.edu 37 5 140773736 140773736 + Silent SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr5:140773736C>T ENST00000398604.2 + 1 1356 c.1356C>T c.(1354-1356)ttC>ttT p.F452F PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron NM_032088.1 NP_114477.1 endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 51 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCCTACTTTCCCTCATGCCT 0.517000 18 6 0 0 1 0 0 TCEB3B 51224 broad.mit.edu 37 18 44560364 44560364 + Nonsense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr18:44560364C>T ENST00000332567.4 - 1 1624 c.1272G>A c.(1270-1272)tgG>tgA p.W424* KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron NM_016427.2 NP_057511.2 Q8IYF1 ELOA2_HUMAN transcription elongation factor B polypeptide 3B (elongin A2) 424 regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 TAGCCGAATCCCAGGACTCAC 0.547000 44 74 0 0 1 0 0 RBM47 54502 broad.mit.edu 37 4 40440485 40440485 + Silent SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr4:40440485G>A ENST00000319592.4 - 4 1135 c.426C>T c.(424-426)ctC>ctT p.L142L RBM47_ENST00000295971.7_Silent_p.L142L|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000514014.1_Silent_p.L104L|RBM47_ENST00000381795.6_Silent_p.L142L|RBM47_ENST00000381793.2_Silent_p.L142L A0AV96 RBM47_HUMAN RNA binding motif protein 47 142 RRM 1. nucleus nucleotide binding|RNA binding breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 29 AGCACACGCCGAGCAGGCGGC 0.627000 28 50 0 0 1 0 0 MAGEC3 139081 broad.mit.edu 37 X 140984736 140984736 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chrX:140984736G>A ENST00000298296.1 + 7 1192 c.1192G>A c.(1192-1194)Ggt>Agt p.G398S MAGEC3_ENST00000544766.1_Missense_Mutation_p.G100S|MAGEC3_ENST00000536088.1_Missense_Mutation_p.G100S|MAGEC3_ENST00000483584.1_3'UTR|MAGEC3_ENST00000443323.2_Missense_Mutation_p.G20S|MAGEC3_ENST00000409007.1_Missense_Mutation_p.G100S NM_138702.1 NP_619647.1 Q8TD91 MAGC3_HUMAN melanoma antigen family C, 3 398 Pro-rich. NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2) 69 Acute lymphoblastic leukemia(192;6.56e-05) tcctccccagggtcctcccaa 0.572000 9 3 0 0 1 0 0 IGHV4OR15-8 28317 broad.mit.edu 37 15 22473173 22473173 + RNA SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr15:22473173G>A ENST00000557788.2 - 0 97 GGTCTCCGAAGGCTTCACCAG 0.647000 26 184 0 0 1 0 0 ZFAT 57623 broad.mit.edu 37 8 135649738 135649738 + Silent SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr8:135649738G>A ENST00000520727.1 - 4 677 c.378C>T c.(376-378)atC>atT p.I126I ZFAT_ENST00000429442.2_Silent_p.I126I|ZFAT_ENST00000520214.1_Silent_p.I126I|ZFAT_ENST00000520356.1_Silent_p.I126I|ZFAT_ENST00000523399.1_Silent_p.I138I|ZFAT_ENST00000377838.3_Silent_p.I138I NM_001029939.3 NP_001025110.2 Q9P243 ZFAT_HUMAN zinc finger and AT hook domain containing 138 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0432) AATTCAGCACGATAATGCAGA 0.507000 33 52 0 0 1 0 0 PPFIA2 8499 broad.mit.edu 37 12 81719571 81719571 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr12:81719571C>T ENST00000550584.2 - 21 2922 c.2627G>A c.(2626-2628)cGa>cAa p.R876Q PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000552948.1_Missense_Mutation_p.R876Q|PPFIA2_ENST00000550359.2_Missense_Mutation_p.R723Q|PPFIA2_ENST00000333447.7_Missense_Mutation_p.R858Q|PPFIA2_ENST00000549325.1_Missense_Mutation_p.R858Q|PPFIA2_ENST00000541570.2_Missense_Mutation_p.R443Q|PPFIA2_ENST00000548586.1_Missense_Mutation_p.R876Q|PPFIA2_ENST00000443686.3_Missense_Mutation_p.R777Q|PPFIA2_ENST00000549396.1_Missense_Mutation_p.R876Q|PPFIA2_ENST00000541017.1_Missense_Mutation_p.R93Q|PPFIA2_ENST00000407050.4_Missense_Mutation_p.R802Q NM_001220473.1 NP_001207402.1 B7Z663 B7Z663_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 802 NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5) 85 CTTTAGTCTTCGATCCTTCTC 0.398000 8 18 0 0 1 0 0 WASF3 10810 broad.mit.edu 37 13 27241707 27241707 + Missense_Mutation SNP G G C TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr13:27241707G>C ENST00000361042.4 + 5 547 c.322G>C c.(322-324)Gac>Cac p.D108H WASF3_ENST00000335327.5_Missense_Mutation_p.D108H|WASF3_ENST00000496788.1_3'UTR Q9UPY6 WASF3_HUMAN WAS protein family, member 3 108 actin filament polymerization cytoplasm|cytoskeleton actin binding breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2) 22 Colorectal(5;0.000247) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155) CACAGTCCAAGACCAGCAAGT 0.383000 8 70 0 0 1 0 0 SLC6A3 6531 broad.mit.edu 37 5 1422089 1422089 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr5:1422089C>T ENST00000270349.9 - 5 821 c.694G>A c.(694-696)Gac>Aac p.D232N SLC6A3_ENST00000453492.2_Missense_Mutation_p.D232N NM_001044.4 NP_001035.1 Q01959 SC6A3_HUMAN solute carrier family 6 (neurotransmitter transporter), member 3 232 cell death|neurotransmitter biosynthetic process axon|cytoplasm|integral to plasma membrane|neuronal cell body breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 38 OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262) Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721) GGCCCCAGGTCGTCGATGCCA 0.647000 45 77 0 0 1 0 0 MAP2K1 5604 broad.mit.edu 37 15 66729163 66729163 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr15:66729163C>T ENST00000307102.5 + 3 902 c.371C>T c.(370-372)cCg>cTg p.P124L NM_002755.3 NP_002746.1 Q02750 MP2K1_HUMAN mitogen-activated protein kinase kinase 1 124 Protein kinase. activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|plasma membrane ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1) 20 TGCAACTCTCCGTACATCGTG 0.512000 45 59 0 0 1 0 0 MSR1 4481 broad.mit.edu 37 8 16007814 16007814 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr8:16007814G>A ENST00000350896.3 - 7 1102 c.905C>T c.(904-906)cCg>cTg p.P302L MSR1_ENST00000262101.5_Missense_Mutation_p.P302L|MSR1_ENST00000381998.4_Missense_Mutation_p.P302L|MSR1_ENST00000355282.2_Missense_Mutation_p.P302L|MSR1_ENST00000536385.1_Missense_Mutation_p.P76L|MSR1_ENST00000445506.2_Missense_Mutation_p.P320L NM_138715.2|NM_138716.2 NP_619729.1|NP_619730.1 P21757 MSRE_HUMAN macrophage scavenger receptor 1 302 Collagen-like. 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) TTTAAGACCCGGAGGACCTAC 0.373000 16 18 0 0 1 0 0 ATP10D 57205 broad.mit.edu 37 4 47560197 47560197 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr4:47560197G>A ENST00000273859.3 + 12 2610 c.2341G>A c.(2341-2343)Gtt>Att p.V781I AC092597.3_ENST00000508081.1_RNA NM_020453.3 NP_065186.3 Q9P241 AT10D_HUMAN ATPase, class V, type 10D 781 ATP biosynthetic process|cation transport integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1) 66 AAGAATGTCTGTTGTGGTCCG 0.473000 44 64 0 0 1 0 0 RIC8B 55188 broad.mit.edu 37 12 107236477 107236477 + Missense_Mutation SNP C C G TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr12:107236477C>G ENST00000392837.4 + 5 1098 c.947C>G c.(946-948)cCc>cGc p.P316R RIC8B_ENST00000355478.2_Missense_Mutation_p.P276R|RIC8B_ENST00000392839.2_Missense_Mutation_p.P316R|RIC8B_ENST00000549643.1_Intron Q9NVN3 RIC8B_HUMAN RIC8 guanine nucleotide exchange factor B 316 regulation of G-protein coupled receptor protein signaling pathway cell cortex|cytosol|plasma membrane G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity kidney(2)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1) 19 GATGAACTGCCCAGTAATAAA 0.373000 27 38 0 0 1 0 0 DEFB112 245915 broad.mit.edu 37 6 50016328 50016328 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr6:50016328C>T ENST00000322246.4 - 1 36 c.37G>A c.(37-39)Gaa>Aaa p.E13K NM_001037498.1 NP_001032587.1 Q30KQ8 DB112_HUMAN defensin, beta 112 13 defense response to bacterium extracellular region central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 19 Lung NSC(77;0.042) TACATTTTTTCAAGTTTCAGT 0.328000 12 23 0 0 1 0 0 TEAD4 7004 broad.mit.edu 37 12 3103987 3103987 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr12:3103987C>T ENST00000359864.2 + 3 245 c.55C>T c.(55-57)Cct>Tct p.P19S TEAD4_ENST00000397122.2_Intron|TEAD4_ENST00000358409.2_Missense_Mutation_p.P19S NM_003213.3 NP_003204.2 Q15561 TEAD4_HUMAN TEA domain family member 4 19 hippo signaling cascade|muscle organ development|skeletal system development DNA binding|protein binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1) 10 Ovarian(42;0.211) OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831) TCCCACCTCCCCTGAGGGGAG 0.642000 45 89 0 0 1 0 0 TMEM176A 55365 broad.mit.edu 37 7 150501522 150501522 + Silent SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr7:150501522C>T ENST00000484928.1 + 6 1209 c.628C>T c.(628-630)Ctg>Ttg p.L210L TMEM176A_ENST00000004103.3_Silent_p.L210L|TMEM176A_ENST00000461345.1_Silent_p.L151L Q96HP8 T176A_HUMAN transmembrane protein 176A 210 integral to membrane breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1) 12 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TCTGACCCCTCTGTGGCTGTA 0.557000 80 58 0 0 1 0 0 USB1 79650 broad.mit.edu 37 16 58035441 58035441 + Silent SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr16:58035441C>T ENST00000219281.3 + 1 165 c.54C>T c.(52-54)tcC>tcT p.S18S USB1_ENST00000565662.1_3'UTR|USB1_ENST00000423271.3_Silent_p.S18S|USB1_ENST00000539737.2_Silent_p.S18S|USB1_ENST00000563149.1_Silent_p.S18S|USB1_ENST00000561743.1_Intron NM_024598.3 NP_078874.2 U6 snRNA biogenesis 1 AGGATGAGTCCGAGGACGGGA 0.677000 OREG0023837 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 13 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37028482 37028482 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chrX:37028482C>T ENST00000358047.3 + 1 2051 c.1999C>T c.(1999-2001)Ccc>Tcc p.P667S NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 667 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 GTCCAGTCTCCCCCCGGAGCC 0.642000 43 76 0 0 1 0 0 DDX19A 55308 broad.mit.edu 37 16 70390100 70390100 + Silent SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr16:70390100G>A ENST00000302243.7 + 4 406 c.243G>A c.(241-243)cgG>cgA p.R81R DDX19A_ENST00000417604.2_Silent_p.R81R|DDX19A_ENST00000562509.1_3'UTR|RP11-529K1.3_ENST00000567706.1_Intron NM_018332.3 NP_060802.1 DEAD (Asp-Glu-Ala-Asp) box polypeptide 19A breast(1)|endometrium(1)|large_intestine(5)|lung(3)|urinary_tract(1) 11 Ovarian(137;0.221) TCCTGCAACGGGATCCAAACT 0.502000 129 33 0 0 1 0 0 ARHGAP31 57514 broad.mit.edu 37 3 119133091 119133091 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr3:119133091G>A ENST00000264245.4 + 12 2847 c.2315G>A c.(2314-2316)gGa>gAa p.G772E NM_020754.2 NP_065805.2 Q2M1Z3 RHG31_HUMAN Rho GTPase activating protein 31 772 Pro-rich. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion|lamellipodium GTPase activator activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 67 GTGGAAGTAGGAGGCCCAGGC 0.597000 12 81 0 0 1 0 0 NFS1 9054 broad.mit.edu 37 20 34278473 34278473 + Silent SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr20:34278473G>A ENST00000374092.4 - 5 493 c.423C>T c.(421-423)ttC>ttT p.F141F NFS1_ENST00000540053.1_5'UTR|NFS1_ENST00000541387.1_Intron|NFS1_ENST00000397425.1_Silent_p.F81F|NFS1_ENST00000374085.1_Silent_p.F81F NM_021100.4 NP_066923.3 Q9Y697 NFS1_HUMAN NFS1 cysteine desulfurase 141 cysteine metabolic process|iron incorporation into metallo-sulfur cluster|Mo-molybdopterin cofactor biosynthetic process|protein complex assembly|water-soluble vitamin metabolic process cytosol|mitochondrial matrix|nucleus cysteine desulfurase activity|protein homodimerization activity|pyridoxal phosphate binding central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 18 Lung NSC(9;0.00608)|all_lung(11;0.00918) BRCA - Breast invasive adenocarcinoma(18;0.0886) L-Alanine(DB00160)|L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114) GTGACCTGTAGAATCGGGCCA 0.488000 65 116 0 0 1 0 0 SLC4A1AP 22950 broad.mit.edu 37 2 27908014 27908014 + Silent SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr2:27908014G>A ENST00000326019.6 + 10 2268 c.1986G>A c.(1984-1986)gaG>gaA p.E662E NM_018158.2 NP_060628.2 Q9BWU0 NADAP_HUMAN solute carrier family 4 (anion exchanger), member 1, adaptor protein 662 Glu-rich. cytoplasm|nucleus double-stranded RNA binding|protein binding breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(172;0.155) aagaaaaggaggagCATGAAA 0.493000 21 49 0 0 1 0 0 ZCCHC11 23318 broad.mit.edu 37 1 52991649 52991649 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr1:52991649G>A ENST00000371544.3 - 2 566 c.304C>T c.(304-306)Cct>Tct p.P102S ZCCHC11_ENST00000355809.4_Missense_Mutation_p.P102S|ZCCHC11_ENST00000257177.4_Missense_Mutation_p.P102S NM_001009881.2|NM_015269.2 NP_001009881.1|NP_056084.1 Q5TAX3 TUT4_HUMAN zinc finger, CCHC domain containing 11 102 miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance cytoplasm|nucleolus nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 GGTGAATTAGGAAATTTTTTT 0.398000 54 79 0 0 1 0 0 CPAMD8 27151 broad.mit.edu 37 19 17057989 17057989 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr19:17057989G>A ENST00000443236.1 - 21 2729 c.2698C>T c.(2698-2700)Cct>Tct p.P900S NM_015692.2 NP_056507.2 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain containing 8 853 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 CGTTTGCCAGGATGCCCAACA 0.592000 99 33 0 0 1 0 0 BRCA1 672 broad.mit.edu 37 17 41222962 41222962 + Silent SNP G G A rs80359884 TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr17:41222962G>A ENST00000309486.4 - 14 5108 c.4081C>T c.(4081-4083)Ctg>Ttg p.L1361L BRCA1_ENST00000346315.3_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000591534.1_Silent_p.L148L|BRCA1_ENST00000354071.3_Intron|BRCA1_ENST00000357654.3_Silent_p.L1657L|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000471181.2_Silent_p.L1678L|BRCA1_ENST00000493795.1_Silent_p.L1610L|BRCA1_ENST00000352993.3_Silent_p.L515L|BRCA1_ENST00000491747.2_Silent_p.L553L|BRCA1_ENST00000351666.3_Silent_p.L474L|BRCA1_ENST00000468300.1_Silent_p.L553L NM_007297.3 NP_009228.2 P38398 BRCA1_HUMAN breast cancer 1, early onset 1657 androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2) 120 Breast(137;0.000717) BRCA - Breast invasive adenocarcinoma(366;0.126) TCTGGGGTCAGGCCAGACACC 0.403000 """D, Mis, N, F, S""" ovarian """breast, ovarian""" Homologous recombination Hereditary Breast-Ovarian Cancer, BRCA1 type TCGA Ovarian(2;0.000030) 35 51 0 0 1 0 0 MAPK4 5596 broad.mit.edu 37 18 48256178 48256178 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr18:48256178C>T ENST00000400384.2 + 6 2754 c.1718C>T c.(1717-1719)cCt>cTt p.P573L MAPK4_ENST00000540640.1_Missense_Mutation_p.P362L|MAPK4_ENST00000592595.1_3'UTR NM_002747.3 NP_002738.2 P31152 MK04_HUMAN mitogen-activated protein kinase 4 573 cell cycle ATP binding|MAP kinase activity lung(4)|skin(3)|upper_aerodigestive_tract(1) 8 Colorectal(6;0.0297) Colorectal(21;0.156) CCCGAGCACCCTGGCGACCTC 0.652000 17 19 0 0 1 0 0 GIMAP2 26157 broad.mit.edu 37 7 150389748 150389748 + Missense_Mutation SNP C C T rs144149379 TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr7:150389748C>T ENST00000223293.5 + 3 468 c.374C>T c.(373-375)gCt>gTt p.A125V NM_015660.2 NP_056475.1 Q9UG22 GIMA2_HUMAN GTPase, IMAP family member 2 125 integral to membrane GTP binding kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1) 13 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GACCAGCAGGCTGCACAGAGG 0.552000 15 44 0 0 1 0 0 ERLEC1 27248 broad.mit.edu 37 2 54024932 54024932 + Splice_Site SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr2:54024932G>A ENST00000185150.4 + 5 621 c.490_splice c.e5+1 p.E164_splice ASB3_ENST00000406625.2_Intron|ASB3_ENST00000498475.2_Intron|ERLEC1_ENST00000405123.3_Splice_Site_p.E164_splice|ERLEC1_ENST00000378239.5_Splice_Site_p.E164_splice|GPR75-ASB3_ENST00000352846.3_Intron NM_015701.4 NP_056516.2 Q96DZ1 ERLEC_HUMAN endoplasmic reticulum lectin 1 164 PRKCSH 1. ER-associated protein catabolic process endoplasmic reticulum lumen glycoprotein binding|protein binding endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1) 18 ATTTGAAAAAGGTTGGTGTCT 0.294000 35 32 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179494084 179494084 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr2:179494084C>T ENST00000589042.1 - 240 44592 c.44368G>A c.(44368-44370)Gaa>Aaa p.E14790K TTN_ENST00000342175.6_Missense_Mutation_p.E5917K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E5850K|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E13149K|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E5725K|TTN_ENST00000342992.6_Missense_Mutation_p.E12222K NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 13149 Fibronectin type-III 6. 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) GGGATATCTTCGTAGGAGAGC 0.493000 18 9 0 0 1 0 0 NEO1 4756 broad.mit.edu 37 15 73562546 73562546 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr15:73562546C>T ENST00000339362.5 + 18 3137 c.2690C>T c.(2689-2691)aCc>aTc p.T897I NEO1_ENST00000560262.1_Missense_Mutation_p.T897I|NEO1_ENST00000261908.6_Missense_Mutation_p.T897I|NEO1_ENST00000558964.1_Missense_Mutation_p.T897I Q92859 NEO1_HUMAN neogenin 1 897 Fibronectin type-III 5. axon guidance|cell adhesion|positive regulation of muscle cell differentiation Golgi apparatus|integral to plasma membrane|nucleus NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2) 57 CGATGGAAAACCAACATCCCA 0.438000 27 48 0 0 1 0 0 WNT5B 81029 broad.mit.edu 37 12 1749036 1749036 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr12:1749036C>T ENST00000397196.2 + 4 747 c.515C>T c.(514-516)gCc>gTc p.A172V WNT5B_ENST00000310594.3_Missense_Mutation_p.A172V|WNT5B_ENST00000537031.1_Missense_Mutation_p.A172V|WNT5B_ENST00000542408.1_Intron NM_032642.2 NP_116031.1 Q9H1J7 WNT5B_HUMAN wingless-type MMTV integration site family, member 5B 172 angiogenesis|anterior/posterior pattern formation|cell migration involved in gastrulation|cellular response to retinoic acid|chondrocyte differentiation|convergent extension involved in axis elongation|convergent extension involved in gastrulation|dorsal/ventral axis specification|endocrine pancreas development|fat cell differentiation|lens fiber cell development|negative regulation of canonical Wnt receptor signaling pathway|neuron differentiation|positive regulation of cell migration|positive regulation of fat cell differentiation|respiratory system development|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix frizzled-2 binding skin(1) 1 Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.00109) TACCGCTTCGCCAAGGAGTTT 0.652000 11 29 0 0 1 0 0 HIST1H1T 3010 broad.mit.edu 37 6 26107904 26107904 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr6:26107904C>T ENST00000338379.4 - 1 460 c.418G>A c.(418-420)Gac>Aac p.D140N NM_005323.3 NP_005314.2 P22492 H1T_HUMAN histone cluster 1, H1t 140 cell differentiation|multicellular organismal development|nucleosome assembly|spermatogenesis nucleosome DNA binding breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1) 9 GACTTGGAGTCCCTGGATAAA 0.453000 61 97 0 0 1 0 0 C1orf158 93190 broad.mit.edu 37 1 12806401 12806401 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr1:12806401C>T ENST00000288048.5 + 1 239 c.23C>T c.(22-24)cCa>cTa p.P8L C1orf158_ENST00000474179.1_3'UTR|C1orf158_ENST00000376210.3_Missense_Mutation_p.P8L NM_152290.2 NP_689503.2 Q8N1D5 CA158_HUMAN chromosome 1 open reading frame 158 8 central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|ovary(1)|skin(2)|urinary_tract(3) 10 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) GCAGTAAATCCACAGCCACTC 0.453000 24 37 0 0 1 0 0 PSG6 5675 broad.mit.edu 37 19 43411239 43411239 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr19:43411239G>A ENST00000187910.2 - 5 1140 c.1075C>T c.(1075-1077)Cca>Tca p.P359S PSG6_ENST00000402603.4_Missense_Mutation_p.P266S|PSG6_ENST00000292125.2_Missense_Mutation_p.P359S NM_001031850.3 NP_001027020.1 pregnancy specific beta-1-glycoprotein 6 central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 44 Prostate(69;0.00899) TCTGCCGGTGGGTTAGAGTCC 0.463000 154 189 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72821358 72821358 + Missense_Mutation SNP G G A rs145062714 byFrequency TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr16:72821358G>A ENST00000268489.5 - 10 11489 c.10817C>T c.(10816-10818)tCc>tTc p.S3606F ZFHX3_ENST00000397992.5_Missense_Mutation_p.S2692F NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 3606 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) GGAAGCGGAGGAGGGGGCGGC 0.662000 25 17 0 0 1 0 0 USF1 7391 broad.mit.edu 37 1 161011928 161011928 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr1:161011928G>A ENST00000368021.3 - 5 458 c.254C>T c.(253-255)cCt>cTt p.P85L USF1_ENST00000368019.1_Missense_Mutation_p.P85L|USF1_ENST00000368020.1_Missense_Mutation_p.P85L|USF1_ENST00000435396.1_Missense_Mutation_p.P26L NM_007122.3 NP_009053.1 P22415 USF1_HUMAN upstream transcription factor 1 85 cellular response to insulin stimulus|glucose homeostasis|late viral mRNA transcription|lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter by glucose|response to hypoxia|response to UV transcription factor complex bHLH transcription factor binding|histone deacetylase binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity central_nervous_system(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 9 all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00122) TTGAGTGGCAGGGTAGCCACT 0.542000 38 48 0 0 1 0 0 CYP4F8 11283 broad.mit.edu 37 19 15740130 15740130 + RNA SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr19:15740130G>A ENST00000441682.2 + 0 1586 P98187 CP4F8_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 8 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 TTTGCGTGCGGAGGACGGACT 0.612000 5 5 0 0 1 0 0 NTRK1 4914 broad.mit.edu 37 1 156843485 156843485 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr1:156843485C>T ENST00000368196.3 + 8 1031 c.911C>T c.(910-912)tCt>tTt p.S304F NTRK1_ENST00000392302.2_Missense_Mutation_p.S274F|NTRK1_ENST00000358660.3_Missense_Mutation_p.S304F|NTRK1_ENST00000524377.1_Missense_Mutation_p.S304F NM_001012331.1 NP_001012331.1 P04629 NTRK1_HUMAN neurotrophic tyrosine kinase, receptor, type 1 304 Ig-like C2-type 2. activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) Imatinib(DB00619) ATCCCCTTCTCTGTGGATGGG 0.627000 T """TPM3, TPR, TFG""" papillary thyroid TSP Lung(10;0.080) 12 16 0 0 1 0 0 NUP205 23165 broad.mit.edu 37 7 135307611 135307611 + Missense_Mutation SNP T T C TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr7:135307611T>C ENST00000285968.6 + 31 4443 c.4417T>C c.(4417-4419)Tat>Cat p.Y1473H NM_015135.2 NP_055950.1 Q92621 NU205_HUMAN nucleoporin 205kDa 1473 carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 TATTGAAAGTTATGGCGCCGC 0.398000 94 54 0 0 1 0 0 DMBT1 1755 broad.mit.edu 37 10 124361432 124361432 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr10:124361432G>A ENST00000368909.3 + 29 3569 c.3463G>A c.(3463-3465)Gat>Aat p.D1155N DMBT1_ENST00000330163.4_Missense_Mutation_p.D656N|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000344338.3_Missense_Mutation_p.D1145N|DMBT1_ENST00000368955.3_Missense_Mutation_p.D1145N|DMBT1_ENST00000338354.3_Missense_Mutation_p.D1155N|DMBT1_ENST00000368956.2_Missense_Mutation_p.D656N NM_007329.2 NP_015568.2 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 1155 SRCR 9. 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 calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface 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) GGACACCAATGATGCCAATGT 0.602000 133 46 0 0 1 0 0 LTK 4058 broad.mit.edu 37 15 41801262 41801262 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr15:41801262G>A ENST00000263800.6 - 8 1159 c.1063C>T c.(1063-1065)Ccc>Tcc p.P355S LTK_ENST00000561619.1_Missense_Mutation_p.P37S|LTK_ENST00000453182.2_Missense_Mutation_p.P294S|LTK_ENST00000355166.5_Missense_Mutation_p.P294S NM_002344.5 NP_002335.2 P29376 LTK_HUMAN leukocyte receptor tyrosine kinase 355 apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1) 26 all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172) OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113) TCGCTGCTGGGGTGTATGAAG 0.587000 TSP Lung(18;0.14) 37 55 0 0 1 0 0 KRT31 3881 broad.mit.edu 37 17 39551735 39551735 + Silent SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr17:39551735C>T ENST00000251645.2 - 4 781 c.729G>A c.(727-729)gtG>gtA p.V243V NM_002277.2 NP_002268.2 Q15323 K1H1_HUMAN keratin 31 243 Coil 2.|Rod. epidermis development intermediate filament protein binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 31 Breast(137;0.000496) ACCATTGCTCCACTTCCCTGC 0.622000 46 68 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13841027 13841027 + Silent SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr5:13841027G>A ENST00000265104.4 - 34 5801 c.5697C>T c.(5695-5697)atC>atT p.I1899I NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1899 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.I1899M(1) 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) GGTCATCAAAGATATCCCTTT 0.383000 Kartagener syndrome 19 50 0 0 1 0 0 GRM1 2911 broad.mit.edu 37 6 146350780 146350780 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr6:146350780G>A ENST00000392299.2 + 2 597 c.127G>A c.(127-129)Gga>Aga p.G43R GRM1_ENST00000355289.4_Missense_Mutation_p.G43R|GRM1_ENST00000282753.1_Missense_Mutation_p.G43R|GRM1_ENST00000507907.1_Missense_Mutation_p.G43R|GRM1_ENST00000492807.2_Missense_Mutation_p.G43R|GRM1_ENST00000361719.2_Missense_Mutation_p.G43R Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 43 synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) CAGAATGGACGGAGATGTCAT 0.597000 77 19 0 0 1 0 0 ZFP36L1 677 broad.mit.edu 37 14 69256433 69256433 + Silent SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr14:69256433G>A ENST00000439696.2 - 2 1135 c.834C>T c.(832-834)ctC>ctT p.L278L ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Silent_p.L278L NM_001244701.1|NM_004926.3 NP_001231630.1|NP_004917.2 Q07352 TISB_HUMAN ZFP36 ring finger protein-like 1 278 regulation of mRNA stability cytosol|nucleus DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1) 21 all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) TGGGCCGGAAGAGGAAGGTGG 0.627000 OREG0022753 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 84 103 0 0 1 0 0 BAG6 7917 broad.mit.edu 37 6 31617057 31617057 + Silent SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr6:31617057G>A ENST00000404765.2 - 4 631 c.342C>T c.(340-342)ccC>ccT p.P114P BAG6_ENST00000375964.6_Silent_p.P114P|BAG6_ENST00000375976.4_Silent_p.P114P|BAG6_ENST00000439687.2_Silent_p.P114P|BAG6_ENST00000362049.6_Silent_p.P114P|BAG6_ENST00000211379.5_Silent_p.P114P P46379 BAG6_HUMAN BCL2-associated athanogene 6 114 apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process BAT3 complex|nucleus polyubiquitin binding|proteasome binding|ribosome binding breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2) 36 GAGTACCAGGGGGGGATCCCC 0.582000 66 188 0 0 1 0 0 NOS1 4842 broad.mit.edu 37 12 117658008 117658008 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr12:117658008C>T ENST00000317775.6 - 27 4727 c.4042G>A c.(4042-4044)Ggg>Agg p.G1348R NOS1_ENST00000338101.4_Missense_Mutation_p.G1382R|NOS1_ENST00000344089.3_3'UTR NM_000620.4|NM_001204218.1 NP_000611.1|NP_001191147.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 1348 multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) ATGTGGCCCCCTTGCTCCTTC 0.602000 53 135 0 0 1 0 0 ZNF449 203523 broad.mit.edu 37 X 134481331 134481331 + Silent SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chrX:134481331G>A ENST00000339249.4 + 2 428 c.288G>A c.(286-288)gaG>gaA p.E96E ZNF449_ENST00000370761.3_Silent_p.E96E|ZNF449_ENST00000370760.3_Silent_p.E96E NM_152695.5 NP_689908.3 Q6P9G9 ZN449_HUMAN zinc finger protein 449 96 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) ACTGCCCAGAGAATAGAGAAA 0.468000 27 38 0 0 1 0 0 MAPK10 5602 broad.mit.edu 37 4 87115518 87115518 + Missense_Mutation SNP T T C TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr4:87115518T>C ENST00000359221.3 - 3 563 c.37A>G c.(37-39)Aca>Gca p.T13A MAPK10_ENST00000361569.2_Missense_Mutation_p.T13A|RP11-778J15.1_ENST00000511917.1_RNA|MAPK10_ENST00000513839.1_5'UTR|MAPK10_ENST00000449047.2_5'UTR|MAPK10_ENST00000395166.1_5'UTR|MAPK10_ENST00000395161.2_Missense_Mutation_p.T13A|MAPK10_ENST00000395169.3_5'UTR P53779 MK10_HUMAN mitogen-activated protein kinase 10 13 innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding breast(1)|central_nervous_system(1)|stomach(1) 3 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243) OV - Ovarian serous cystadenocarcinoma(123;0.002) ACATCCAATGTTGGTTCACTG 0.343000 66 82 0 0 1 0 0 ZC3H12B 340554 broad.mit.edu 37 X 64722444 64722444 + Silent SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chrX:64722444G>A ENST00000338957.4 + 5 1933 c.1866G>A c.(1864-1866)caG>caA p.Q622Q ZC3H12B_ENST00000423889.3_Silent_p.Q611Q NM_001010888.3 NP_001010888.3 Q5HYM0 ZC12B_HUMAN zinc finger CCCH-type containing 12B 611 endonuclease activity|nucleic acid binding|zinc ion binding breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 CAGCATCCCAGAACCGACTTC 0.488000 7 13 0 0 1 0 0 WDFY3 23001 broad.mit.edu 37 4 85707250 85707250 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr4:85707250G>A ENST00000322366.6 - 24 4351 c.3944C>T c.(3943-3945)tCa>tTa p.S1315L WDFY3_ENST00000295888.4_Missense_Mutation_p.S1315L Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 1315 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) TGGTACTAATGACACAGGGGA 0.403000 27 28 0 0 1 0 0 LAMA3 3909 broad.mit.edu 37 18 21422447 21422447 + Missense_Mutation SNP C C G TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr18:21422447C>G ENST00000313654.9 + 28 3666 c.3425C>G c.(3424-3426)cCc>cGc p.P1142R LAMA3_ENST00000399516.3_Missense_Mutation_p.P1142R NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 1142 Domain IV 1 (domain IV B). 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) CCGACGTTTCCCGCGCAGGTG 0.587000 34 33 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195505314 195505314 + Missense_Mutation SNP G G A rs142178516 TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr3:195505314G>A ENST00000463781.3 - 3 13262 c.12803C>T c.(12802-12804)cCg>cTg p.P4268L MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Missense_Mutation_p.P32L|MUC4_ENST00000475231.1_Missense_Mutation_p.P4268L NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 1025 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) CTTCAGTGACGGTGTTGTCAT 0.517000 17 39 0 0 1 0 0 IGHV3-13 28449 broad.mit.edu 37 14 106586539 106586539 + RNA SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr14:106586539C>T ENST00000390602.2 - 0 126 CTCCATGAATCACCTTCTAAT 0.438000 104 132 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 71 50 0 0 1 0 0 KAL1 3730 broad.mit.edu 37 X 8565237 8565237 + Silent SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chrX:8565237G>A ENST00000262648.3 - 4 528 c.379C>T c.(379-381)Ctg>Ttg p.L127L NM_000216.2 NP_000207.2 P23352 KALM_HUMAN Kallmann syndrome 1 sequence 127 WAP. axon guidance|cell adhesion|cellular component movement extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1) 32 TTCACCAACAGGATGTATTTG 0.473000 14 35 0 0 1 0 0 LIMCH1 22998 broad.mit.edu 37 4 41694399 41694399 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr4:41694399G>A ENST00000313860.7 + 26 3278 c.3224G>A c.(3223-3225)aGa>aAa p.R1075K RP11-227F19.5_ENST00000506475.1_RNA|LIMCH1_ENST00000512946.1_Missense_Mutation_p.R1049K|LIMCH1_ENST00000503057.1_Missense_Mutation_p.R1459K|LIMCH1_ENST00000381753.4_Missense_Mutation_p.R882K|LIMCH1_ENST00000396595.3_Missense_Mutation_p.R894K|LIMCH1_ENST00000512820.1_Missense_Mutation_p.R1061K|LIMCH1_ENST00000508501.1_Missense_Mutation_p.R1048K|LIMCH1_ENST00000509277.1_Missense_Mutation_p.R908K|LIMCH1_ENST00000511496.1_Missense_Mutation_p.R889K|LIMCH1_ENST00000513024.1_Missense_Mutation_p.R902K|LIMCH1_ENST00000514096.1_Missense_Mutation_p.R889K|LIMCH1_ENST00000512632.1_Missense_Mutation_p.R972K NM_014988.2 NP_055803.2 Q9UPQ0 LIMC1_HUMAN LIM and calponin homology domains 1 1075 LIM zinc-binding. actomyosin structure organization actin binding|zinc ion binding central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5) 41 ATGCGATCCAGAAGTAAGTAC 0.443000 27 33 0 0 1 0 0 ACP2 53 broad.mit.edu 37 11 47267111 47267111 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr11:47267111G>A ENST00000256997.3 - 5 579 c.463C>T c.(463-465)Ccg>Tcg p.P155S ACP2_ENST00000533929.1_Missense_Mutation_p.P127S|ACP2_ENST00000530453.1_Intron|ACP2_ENST00000529444.1_Intron|ACP2_ENST00000527256.1_Missense_Mutation_p.P123S|ACP2_ENST00000537863.1_Intron NM_001610.2 NP_001601.1 P11117 PPAL_HUMAN acid phosphatase 2, lysosomal 155 integral to membrane|lysosomal lumen|lysosomal membrane acid phosphatase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1) 10 GGGCCCAACGGGAACTTCAGC 0.607000 23 43 0 0 1 0 0 EAF2 55840 broad.mit.edu 37 3 121575880 121575880 + Nonsense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr3:121575880C>T ENST00000273668.2 + 4 432 c.361C>T c.(361-363)Cag>Tag p.Q121* EAF2_ENST00000451944.2_Nonsense_Mutation_p.Q121* NM_018456.4 NP_060926.2 Q96CJ1 EAF2_HUMAN ELL associated factor 2 121 apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck protein binding endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1) 9 GBM - Glioblastoma multiforme(114;0.0972) CAGTAAAATTCAGTATCGTAA 0.343000 29 44 0 0 1 0 0 CEPT1 10390 broad.mit.edu 37 1 111690389 111690389 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr1:111690389C>T ENST00000545121.1 + 2 261 c.53C>T c.(52-54)tCc>tTc p.S18F CEPT1_ENST00000357172.4_Missense_Mutation_p.S18F NM_001007794.1 NP_001007795.1 Q9Y6K0 CEPT1_HUMAN choline/ethanolamine phosphotransferase 1 18 endoplasmic reticulum membrane|integral to membrane|nuclear membrane diacylglycerol cholinephosphotransferase activity|ethanolaminephosphotransferase activity|metal ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1) 8 all_cancers(81;2.27e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359) Lung(183;0.0173)|Colorectal(144;0.0375)|all cancers(265;0.0701)|LUSC - Lung squamous cell carcinoma(189;0.0888)|Epithelial(280;0.103)|COAD - Colon adenocarcinoma(174;0.141) Choline(DB00122) CACCCGGAGTCCCCAGTGGGC 0.398000 40 33 0 0 1 0 0 ADAMTS13 11093 broad.mit.edu 37 9 136305625 136305625 + Silent SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr9:136305625C>T ENST00000371929.3 + 16 2391 c.1947C>T c.(1945-1947)ctC>ctT p.L649L ADAMTS13_ENST00000356589.2_Silent_p.L618L|ADAMTS13_ENST00000536611.1_Silent_p.L321L|ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000355699.2_Silent_p.L649L|ADAMTS13_ENST00000485925.1_3'UTR NM_139025.3|NM_139027.3 NP_620594.1|NP_620596.2 Q76LX8 ATS13_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 13 649 Spacer. cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis cell surface|proteinaceous extracellular matrix calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4) 36 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05) GGGGACCCCTCCAGGAAGATG 0.637000 6 19 0 0 1 0 0 GRID1 2894 broad.mit.edu 37 10 87628917 87628917 + Silent SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr10:87628917G>A ENST00000327946.7 - 6 886 c.801C>T c.(799-801)atC>atT p.I267I NM_017551.2 NP_060021.1 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 267 cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5) 106 L-Glutamic Acid(DB00142) CCAGATCCAGGATCTCCGGGT 0.507000 Multiple Myeloma(13;0.14) 36 13 0 0 1 0 0 SCN10A 6336 broad.mit.edu 37 3 38738934 38738934 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr3:38738934C>T ENST00000449082.2 - 27 5776 c.5777G>A c.(5776-5778)aGa>aAa p.R1926K NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 1926 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) ACTAAGGCCTCTAGTGACACT 0.453000 75 90 0 0 1 0 0 EGF 1950 broad.mit.edu 37 4 110885621 110885621 + Silent SNP A A G TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr4:110885621A>G ENST00000265171.5 + 10 1948 c.1503A>G c.(1501-1503)acA>acG p.T501T EGF_ENST00000503392.1_Silent_p.T501T|EGF_ENST00000509793.1_Silent_p.T459T NM_001178130.1|NM_001963.4 NP_001171601.1|NP_001954.2 P01133 EGF_HUMAN epidermal growth factor 501 angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface integral to membrane|plasma membrane|platelet alpha granule lumen calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Hepatocellular(203;0.0893) OV - Ovarian serous cystadenocarcinoma(123;9.87e-06) Sulindac(DB00605) TTGATGGAACAGACTATGGAA 0.388000 84 89 0 0 1 0 0 HUWE1 10075 broad.mit.edu 37 X 53641589 53641589 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chrX:53641589C>T ENST00000342160.3 - 22 2624 c.2167G>A c.(2167-2169)Gaa>Aaa p.E723K HUWE1_ENST00000218328.8_Missense_Mutation_p.E723K|HUWE1_ENST00000262854.6_Missense_Mutation_p.E723K Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 723 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 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 GAGGCTTCTTCTGCGGCATGA 0.488000 51 68 0 0 1 0 0 ZNF480 147657 broad.mit.edu 37 19 52824988 52824988 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr19:52824988C>T ENST00000595962.1 + 5 551 c.485C>T c.(484-486)tCc>tTc p.S162F CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000335090.6_Missense_Mutation_p.S85F|ZNF480_ENST00000490272.1_3'UTR|ZNF480_ENST00000334564.7_Missense_Mutation_p.S119F NM_144684.2 NP_653285.2 Q8WV37 ZN480_HUMAN zinc finger protein 480 162 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 12 GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369) AACCACAGTTCCTCTGTTTCC 0.363000 30 47 0 0 1 0 0 RPS6 6194 broad.mit.edu 37 9 19379560 19379560 + Missense_Mutation SNP T T A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr9:19379560T>A ENST00000380394.4 - 2 121 c.63A>T c.(61-63)gaA>gaT p.E21D RPS6_ENST00000380384.1_5'UTR|RPS6_ENST00000315377.4_5'UTR|RPS6_ENST00000380381.3_Missense_Mutation_p.E21D NM_001010.2 NP_001001.2 P62753 RS6_HUMAN ribosomal protein S6 21 endocrine pancreas development|glucose homeostasis|insulin receptor signaling pathway|positive regulation of apoptosis|rRNA processing|TOR signaling cascade|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit|nucleolus protein binding endometrium(3)|lung(2)|ovary(1)|urinary_tract(1) 7 Colorectal(97;3.46e-05)|Myeloproliferative disorder(762;0.0255) Lung(42;0.161)|LUSC - Lung squamous cell carcinoma(42;0.234) GAAGTTTGCGTTCATCGTCCA 0.448000 38 58 0 0 1 0 0 DUSP22 56940 broad.mit.edu 37 6 348894 348894 + Nonsense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr6:348894G>A ENST00000604971.1 + 4 1365 c.252G>A c.(250-252)tgG>tgA p.W84* DUSP22_ENST00000605315.1_Nonsense_Mutation_p.W84*|DUSP22_ENST00000603453.1_Nonsense_Mutation_p.W84*|DUSP22_ENST00000419235.2_Nonsense_Mutation_p.W187*|DUSP22_ENST00000605035.1_3'UTR|DUSP22_ENST00000344450.5_Intron Q9NRW4 DUS22_HUMAN dual specificity phosphatase 22 0 Tyrosine-protein phosphatase. apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway cytoplasm|nucleus protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2) 26 all_hematologic(77;0.228) Breast(5;0.0249)|all_hematologic(90;0.0489) OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669) CCAGGCGGTGGAGCAGTTTTC 0.557000 7 63 0 0 1 0 0 CDK3 1018 broad.mit.edu 37 17 74001451 74001451 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr17:74001451C>T ENST00000425876.2 + 7 953 c.865C>T c.(865-867)Cct>Tct p.P289S TEN1-CDK3_ENST00000567351.1_RNA|CDK3_ENST00000448471.1_Missense_Mutation_p.P289S Q00526 CDK3_HUMAN cyclin-dependent kinase 3 289 cell division|cell proliferation|mitosis ATP binding|cyclin-dependent protein kinase activity central_nervous_system(1) 1 CTTCTCATCCCCTGAGCCCTC 0.587000 36 31 0 0 1 0 0 NAT10 55226 broad.mit.edu 37 11 34135361 34135361 + Silent SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr11:34135361C>T ENST00000257829.3 + 5 677 c.471C>T c.(469-471)ctC>ctT p.L157L NAT10_ENST00000531159.2_Silent_p.L85L|NAT10_ENST00000527971.1_Silent_p.L157L NM_024662.2 NP_078938.2 Q9H0A0 NAT10_HUMAN N-acetyltransferase 10 (GCN5-related) 157 nucleolus ATP binding|N-acetyltransferase activity|protein binding endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231) TGAACTCACTCAAGCAATTGT 0.418000 29 72 0 0 1 0 0 LEPREL2 10536 broad.mit.edu 37 12 6939883 6939883 + RNA SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr12:6939883C>T ENST00000251761.8 + 0 967 LEPREL2_ENST00000538102.1_RNA|LEPREL2_ENST00000606935.1_RNA|LEPREL2_ENST00000396725.2_RNA NM_014262.3 NP_055077.2 leprecan-like 2 breast(1)|cervix(1)|endometrium(2)|lung(6) 10 CTTCCCTGTCCCAGACTTCCT 0.602000 7 24 0 0 1 0 0 PRSS50 29122 broad.mit.edu 37 3 46754406 46754406 + Silent SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr3:46754406C>T ENST00000460241.1 - 10 2576 c.906G>A c.(904-906)agG>agA p.R302R PRSS50_ENST00000315170.7_Silent_p.R302R Q9UI38 TSP50_HUMAN protease, serine, 50 302 Peptidase S1. proteolysis endoplasmic reticulum serine-type endopeptidase activity|threonine-type endopeptidase activity endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 11 AGAACTTCTCCCTGTGGGTGT 0.557000 78 86 0 0 1 0 0 RPS6KC1 26750 broad.mit.edu 37 1 213415998 213415998 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr1:213415998C>T ENST00000366960.3 + 12 3058 c.2908C>T c.(2908-2910)Cca>Tca p.P970S RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.P958S|RPS6KC1_ENST00000543354.1_3'UTR|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.P758S NM_012424.3 NP_036556.2 Q96S38 KS6C1_HUMAN ribosomal protein S6 kinase, 52kDa, polypeptide 1 970 Protein kinase 2. cell communication|signal transduction early endosome|membrane ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3) 43 OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145) GTACTGTGCCCCAGGTTAGAG 0.398000 3 18 0 0 1 0 0 HIST1H3B 8358 broad.mit.edu 37 6 26032157 26032157 + Silent SNP C C T rs150069419 by1000genomes TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr6:26032157C>T ENST00000244661.2 - 1 131 c.132G>A c.(130-132)ccG>ccA p.P44P NM_003537.3 NP_003528.1 P68431 H31_HUMAN histone cluster 1, H3b 44 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1) 25 CCACAGTGCCCGGGCGGTAAC 0.652000 96 200 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10447097 10447097 + Silent SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr17:10447097G>A ENST00000245503.5 - 8 1056 c.672C>T c.(670-672)atC>atT p.I224I MYH2_ENST00000532183.1_Silent_p.I224I|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Silent_p.I224I NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 224 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle 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 GGTTGGCACTGATGATTTGAT 0.522000 44 62 0 0 1 0 0 ASH2L 9070 broad.mit.edu 37 8 37996539 37996539 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr8:37996539C>T ENST00000343823.6 + 16 2146 c.1837C>T c.(1837-1839)Cac>Tac p.H613Y ASH2L_ENST00000428278.2_Missense_Mutation_p.H519Y|ASH2L_ENST00000521652.1_Missense_Mutation_p.H486Y|ASH2L_ENST00000545394.1_Missense_Mutation_p.H474Y|ASH2L_ENST00000250635.7_Missense_Mutation_p.H486Y NM_004674.4 NP_004665.2 Q9UBL3 ASH2L_HUMAN ash2 (absent, small, or homeotic)-like (Drosophila) 613 hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter Set1C/COMPASS complex metal ion binding|protein binding|transcription regulatory region DNA binding NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1) 19 Colorectal(12;0.000501) Lung NSC(58;0.0295)|all_lung(54;0.0413) CGTCTTGTATCACGTGGAGAC 0.562000 4 18 0 0 1 0 0 PCDHGA2 56113 broad.mit.edu 37 5 140720928 140720928 + Missense_Mutation SNP T T C TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr5:140720928T>C ENST00000394576.2 + 1 2390 c.2390T>C c.(2389-2391)cTa>cCa p.L797P PCDHGA1_ENST00000517417.1_Intron NM_018915.2 NP_061738.1 breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCTCAATCTCTACTCGAAGAA 0.428000 45 10 0 0 1 0 0 MSLNL 401827 broad.mit.edu 37 16 830819 830819 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr16:830819G>A ENST00000293892.3 - 3 181 c.182C>T c.(181-183)cCg>cTg p.P61L MSLNL_ENST00000442466.1_Intron Q96KJ4 MSLNL_HUMAN mesothelin-like 0 cell adhesion integral to membrane breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 36 CTGTGTGCACGGGTAGGTGAA 0.602000 75 121 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179397418 179397418 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr2:179397418G>A ENST00000589042.1 - 358 104148 c.103924C>T c.(103924-103926)Cct>Tct p.P34642S TTN_ENST00000342175.6_Missense_Mutation_p.P25769S|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P25702S|TTN_ENST00000591111.1_Missense_Mutation_p.P33001S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P25577S|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P32074S|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592836.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 33001 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) TCATAATCAGGAGAAGGTGTA 0.448000 15 32 0 0 1 0 0 GPR116 221395 broad.mit.edu 37 6 46856186 46856186 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr6:46856186C>T ENST00000283296.7 - 4 502 c.214G>A c.(214-216)Gaa>Aaa p.E72K GPR116_ENST00000456426.2_Missense_Mutation_p.E72K|GPR116_ENST00000265417.7_Missense_Mutation_p.E72K|GPR116_ENST00000362015.4_Missense_Mutation_p.E72K NM_001098518.1 NP_001091988.1 Q8IZF2 GP116_HUMAN G protein-coupled receptor 116 72 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 Lung(136;0.192) GATGCATTTTCAAAACTGATC 0.408000 30 53 0 0 1 0 0 ZNF311 282890 broad.mit.edu 37 6 28966547 28966547 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr6:28966547G>A ENST00000377179.3 - 6 891 c.379C>T c.(379-381)Cca>Tca p.P127S ZNF311_ENST00000483450.1_5'UTR NM_001010877.2 NP_001010877.2 Q5JNZ3 ZN311_HUMAN zinc finger protein 311 127 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2) 28 CTGTCCTGTGGATCCTGCACA 0.458000 29 97 0 0 1 0 0 LOC101926911 101926911 broad.mit.edu 37 15 91578400 91578400 + RNA SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr15:91578400C>T ENST00000557804.1 + 0 718 CACGTCCCTCCCTCTGCAAAG 0.572000 7 20 0 0 1 0 0 TP63 8626 broad.mit.edu 37 3 189587118 189587118 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr3:189587118C>T ENST00000264731.3 + 9 1224 c.1135C>T c.(1135-1137)Cgt>Tgt p.R379C TP63_ENST00000392463.2_Missense_Mutation_p.R285C|TP63_ENST00000456148.1_Missense_Mutation_p.R281C|TP63_ENST00000440651.2_Missense_Mutation_p.R375C|TP63_ENST00000382063.4_Missense_Mutation_p.R294C|TP63_ENST00000418709.2_Missense_Mutation_p.R379C|TP63_ENST00000449992.1_Missense_Mutation_p.R200C|TP63_ENST00000392461.3_Missense_Mutation_p.R285C|TP63_ENST00000320472.5_Missense_Mutation_p.R379C|TP63_ENST00000354600.5_Missense_Mutation_p.R285C|TP63_ENST00000392460.3_Missense_Mutation_p.R379C|TP63_ENST00000437221.1_Missense_Mutation_p.R285C NM_001114978.1|NM_003722.4 NP_001108450.1|NP_003713.3 Q9H3D4 P63_HUMAN tumor protein p63 379 Interaction with HIPK2. anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.R379C(1) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6) 61 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) ACCAGCGTTTCGTCAGAACAC 0.363000 HNSCC(45;0.13) 26 36 0 0 1 0 0 LRRC56 115399 broad.mit.edu 37 11 552638 552638 + Silent SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr11:552638C>T ENST00000270115.7 + 13 1751 c.1251C>T c.(1249-1251)gtC>gtT p.V417V NM_198075.3 NP_932341.1 Q8IYG6 LRC56_HUMAN leucine rich repeat containing 56 417 kidney(1)|lung(4)|skin(1) 6 all_cancers(49;2.16e-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;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) CACGGAGGGTCCCTGAAGAGC 0.692000 14 15 0 0 1 0 0 MIOX 55586 broad.mit.edu 37 22 50926108 50926108 + Silent SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr22:50926108C>T ENST00000395732.3 + 3 136 c.114C>T c.(112-114)gaC>gaT p.D38D MIOX_ENST00000395733.3_Silent_p.D38D|MIOX_ENST00000216075.6_Silent_p.D38D Q9UGB7 MIOX_HUMAN myo-inositol oxygenase 38 inositol catabolic process cytoplasm|inclusion body aldo-keto reductase (NADP) activity|ferric iron binding|inositol oxygenase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 13 all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|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) CCCTCCTGGACCGTGTCTTCA 0.672000 37 53 0 0 1 0 0 NLRC4 58484 broad.mit.edu 37 2 32476293 32476293 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr2:32476293C>T ENST00000404025.2 - 5 1128 c.640G>A c.(640-642)Gaa>Aaa p.E214K NLRC4_ENST00000360906.5_Missense_Mutation_p.E214K|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000402280.1_Missense_Mutation_p.E214K Q9NPP4 NLRC4_HUMAN NLR family, CARD domain containing 4 214 NACHT. activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis cytoplasm ATP binding|magnesium ion binding|protein homodimerization activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2) 16 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) CAGAGGGTTTCAAAAAGTCCA 0.527000 37 32 0 0 1 0 0 ZMIZ2 83637 broad.mit.edu 37 7 44805773 44805773 + Silent SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr7:44805773C>T ENST00000309315.4 + 17 2376 c.2253C>T c.(2251-2253)ttC>ttT p.F751F ZMIZ2_ENST00000265346.7_Silent_p.F725F|ZMIZ2_ENST00000463931.1_3'UTR|ZMIZ2_ENST00000441627.1_Silent_p.F751F|ZMIZ2_ENST00000433667.1_Silent_p.F719F|ZMIZ2_ENST00000413916.1_Silent_p.F693F NM_031449.3 NP_113637.3 Q8NF64 ZMIZ2_HUMAN zinc finger, MIZ-type containing 2 751 Pro-rich. positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear replication fork ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 GTTCCAGCTTCCTGGGGCCTG 0.667000 41 81 0 0 1 0 0 GABRA4 2557 broad.mit.edu 37 4 46930529 46930529 + Nonsense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr4:46930529G>A ENST00000264318.3 - 9 2360 c.1378C>T c.(1378-1380)Cga>Tga p.R460* NM_000809.3|NM_001204266.1|NM_001204267.1 NP_000800.2|NP_001191195.1|NP_001191196.1 P48169 GBRA4_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 4 460 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor 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) TATCCAGTTCGGATAGAAGTA 0.458000 43 46 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 216019169 216019169 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr1:216019169C>T ENST00000366943.2 - 45 9438 c.9052G>A c.(9052-9054)Ggg>Agg p.G3018R USH2A_ENST00000307340.3_Missense_Mutation_p.G3018R O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 3018 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) GACTCACCCCCATCGCAAGTG 0.443000 HNSCC(13;0.011) 16 29 0 0 1 0 0 PRDM1 639 broad.mit.edu 37 6 106553202 106553202 + Silent SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr6:106553202C>T ENST00000369096.4 + 5 1401 c.1167C>T c.(1165-1167)taC>taT p.Y389Y PRDM1_ENST00000369089.3_Silent_p.Y255Y|PRDM1_ENST00000369091.2_Silent_p.Y353Y NM_001198.3 NP_001189.2 O75626 PRDM1_HUMAN PR domain containing 1, with ZNF domain 389 negative regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2) 94 Breast(9;0.022) all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365) all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05) TGGGCTCCTACCCTGGCTACG 0.617000 """D, N, Mis, F, S""" DLBCL 39 18 0 0 1 0 0 DBF4B 80174 broad.mit.edu 37 17 42807320 42807320 + Silent SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr17:42807320C>T ENST00000315005.3 + 4 411 c.273C>T c.(271-273)agC>agT p.S91S DBF4B_ENST00000393547.2_Silent_p.S91S|DBF4B_ENST00000398338.3_Silent_p.S91S|DBF4B_ENST00000526915.1_3'UTR NM_145663.2 NP_663696.1 Q8NFT6 DBF4B_HUMAN DBF4 homolog B (S. cerevisiae) 91 BRCT. cell cycle nucleus nucleic acid binding|zinc ion binding kidney(1)|large_intestine(1)|lung(5) 7 Prostate(33;0.0322) TCGTGTCCAGCCGCAGAGAAG 0.488000 32 43 0 0 1 0 0 FER1L6 654463 broad.mit.edu 37 8 125115526 125115526 + Silent SNP T T C TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr8:125115526T>C ENST00000522917.1 + 39 5471 c.5265T>C c.(5263-5265)ccT>ccC p.P1755P FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Silent_p.P1755P NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 1755 integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) GCTGGTGGCCTTTTTCTAAAA 0.468000 4 119 0 0 1 0 0 DCP1A 55802 broad.mit.edu 37 3 53326676 53326676 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr3:53326676G>A ENST00000607628.1 - 7 915 c.806C>T c.(805-807)cCt>cTt p.P269L DCP1A_ENST00000480258.1_5'UTR|DCP1A_ENST00000294241.6_Missense_Mutation_p.P269L|DCP1A_ENST00000606822.1_Missense_Mutation_p.P231L NM_018403.5 NP_060873.4 Q9NPI6 DCP1A_HUMAN decapping mRNA 1A 269 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytoplasmic mRNA processing body|cytosol|nucleus hydrolase activity|protein binding breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647) TTCTGATTGAGGGGCTCCTCC 0.537000 10 29 0 0 1 0 0 TRANK1 9881 broad.mit.edu 37 3 36898779 36898779 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr3:36898779C>T ENST00000429976.2 - 12 2549 c.2302G>A c.(2302-2304)Gat>Aat p.D768N TRANK1_ENST00000428977.2_Missense_Mutation_p.D218N|TRANK1_ENST00000301807.6_Missense_Mutation_p.D218N O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 768 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 TCCTGATCATCATTGCCCTCC 0.562000 131 205 0 0 1 0 0 CYP21A2 1589 broad.mit.edu 37 6 32008241 32008241 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr6:32008241C>T ENST00000418967.2 + 8 1156 c.998C>T c.(997-999)tCc>tTc p.S333F CYP21A2_ENST00000435122.2_Missense_Mutation_p.S303F NM_000500.7 NP_000491.4 P08686 CP21A_HUMAN cytochrome P450, family 21, subfamily A, polypeptide 2 332 glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 11 GCCTCCAGCTCCCGGGTCCCC 0.667000 15 74 0 0 1 0 0 GUCY1A2 2977 broad.mit.edu 37 11 106810489 106810489 + Silent SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr11:106810489G>A ENST00000526355.1 - 4 1371 c.903C>T c.(901-903)atC>atT p.I301I GUCY1A2_ENST00000282249.2_Silent_p.I301I|GUCY1A2_ENST00000347596.2_Silent_p.I301I NM_000855.2 NP_000846.1 P33402 GCYA2_HUMAN guanylate cyclase 1, soluble, alpha 2 301 intracellular signal transduction|platelet activation cytoplasm GTP binding|guanylate cyclase activity|heme binding breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068) BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476) GGTTCTTCATGATATTAGTAT 0.423000 26 30 0 0 1 0 0 HPN 3249 broad.mit.edu 37 19 35556773 35556773 + Splice_Site SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr19:35556773G>A ENST00000262626.2 + 12 1877 c.1050_splice c.e12-1 p.G351_splice HPN-AS1_ENST00000392227.2_RNA|HPN_ENST00000597419.1_Splice_Site_p.G193_splice|HPN_ENST00000392226.1_Splice_Site_p.G351_splice NM_182983.2 NP_892028.1 P05981 HEPS_HUMAN hepsin 351 Peptidase S1. cell growth|proteolysis cytoplasm|integral to plasma membrane scavenger receptor activity|serine-type endopeptidase activity central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2) 19 all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) Coagulation factor VIIa(DB00036) CCCTCCCAGGGCGACAGCGGT 0.652000 58 75 0 0 1 0 0 PAPD7 11044 broad.mit.edu 37 5 6754886 6754886 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr5:6754886C>T ENST00000230859.6 + 13 1586 c.1457C>T c.(1456-1458)tCc>tTc p.S486F NM_001171805.1|NM_001171806.1|NM_006999.4 NP_001165276.1|NP_001165277.1|NP_008930.1 Q5XG87 PAPD7_HUMAN PAP associated domain containing 7 486 cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion nucleus DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 ATGAAACTGTCCATGAAGGGC 0.612000 21 24 0 0 1 0 0 LOC101929762 101929762 broad.mit.edu 37 4 120116928 120116928 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr4:120116928C>T ENST00000326780.3 - 2 239 c.185G>A c.(184-186)cGa>cAa p.R62Q RP11-455G16.1_ENST00000515843.1_Intron TTCTATatttcgtttgaaaac 0.393000 5 8 0 0 1 0 0 ADAM7 8756 broad.mit.edu 37 8 24359078 24359078 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr8:24359078C>T ENST00000175238.6 + 20 2280 c.2197C>T c.(2197-2199)Cat>Tat p.H733Y ADAM7_ENST00000520720.1_Missense_Mutation_p.H505Y|RP11-561E1.1_ENST00000519364.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.H733Y|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA NM_003817.3 NP_003808.2 Q9H2U9 ADAM7_HUMAN ADAM metallopeptidase domain 7 733 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding 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) GCCAGAAATTCATTTCCTAAA 0.388000 31 14 0 0 1 0 0 TULP1 7287 broad.mit.edu 37 6 35477051 35477051 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr6:35477051C>T ENST00000229771.6 - 8 836 c.757G>A c.(757-759)Gag>Aag p.E253K TULP1_ENST00000322263.4_Missense_Mutation_p.E200K NM_003322.3 NP_003313.3 O00294 TULP1_HUMAN tubby like protein 1 253 Poly-Glu. dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse actin filament binding|phosphatidylinositol-4,5-bisphosphate binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 19 GCTGCCTCCTCCTCCTCTTCT 0.562000 204 386 0 0 1 0 0 KRTAP4-8 728224 broad.mit.edu 37 17 39254277 39254277 + Silent SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr17:39254277G>A ENST00000333822.4 - 1 116 c.60C>T c.(58-60)tgC>tgT p.C20C NM_031960.2 NP_114166.1 Q9BYQ9 KRA48_HUMAN keratin associated protein 4-8 20 25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR]. keratin filament endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1) 11 AGGTCTCCTGGCAGAGGTCTT 0.597000 29 37 0 0 1 0 0 TBXAS1 6916 broad.mit.edu 37 7 139706944 139706944 + Silent SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr7:139706944G>A ENST00000263552.6 + 14 1729 c.1191G>A c.(1189-1191)gtG>gtA p.V397V TBXAS1_ENST00000448866.1_Silent_p.V396V|TBXAS1_ENST00000416849.2_Silent_p.V443V|TBXAS1_ENST00000458722.1_Silent_p.V442V|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000336425.5_Silent_p.V396V|TBXAS1_ENST00000436047.2_Silent_p.V397V|TBXAS1_ENST00000414508.2_Silent_p.V397V|TBXAS1_ENST00000411653.1_Silent_p.V396V|TBXAS1_ENST00000425687.1_Silent_p.V329V NM_001130966.2 NP_001124438.1 P24557 THAS_HUMAN thromboxane A synthase 1 (platelet) 396 hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 Melanoma(164;0.0142) TGGACATGGTGATTGCAGAGA 0.612000 68 130 0 0 1 0 0 TBX22 50945 broad.mit.edu 37 X 79277889 79277889 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chrX:79277889G>A ENST00000373294.5 + 1 149 c.121G>A c.(121-123)Gga>Aga p.G41R TBX22_ENST00000442340.1_5'UTR|TBX22_ENST00000373296.3_Missense_Mutation_p.G41R|TBX22_ENST00000476373.1_3'UTR NM_016954.2 NP_058650.1 Q9Y458 TBX22_HUMAN T-box 22 41 multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 65 GAAAAAGGGCGGAGAGGAAGA 0.592000 10 14 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 20975383 20975383 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr16:20975383C>T ENST00000261383.3 - 53 9822 c.9823G>A c.(9823-9825)Gag>Aag p.E3275K DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 3275 AAA 5 (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) TTCTGTTTCTCTGAGATCTCT 0.478000 68 86 0 0 1 0 0 ADCY8 114 broad.mit.edu 37 8 131859746 131859746 + Missense_Mutation SNP A A T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr8:131859746A>T ENST00000286355.5 - 11 4518 c.2426T>A c.(2425-2427)tTt>tAt p.F809Y ADCY8_ENST00000377928.3_Intron NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 809 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|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) CGACTTGTCAAAATCACACCA 0.393000 HNSCC(32;0.087) 7 10 0 0 1 0 0 DSG1 1828 broad.mit.edu 37 18 28923534 28923534 + Silent SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr18:28923534G>A ENST00000257192.4 + 12 2021 c.1809G>A c.(1807-1809)caG>caA p.Q603Q RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578119.1_RNA NM_001942.2 NP_001933.2 Q02413 DSG1_HUMAN desmoglein 1 603 calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 76 OV - Ovarian serous cystadenocarcinoma(10;0.00559) AAGGACCACAGCCTGAACCCA 0.493000 26 44 0 0 1 0 0 SLCO5A1 81796 broad.mit.edu 37 8 70585477 70585477 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr8:70585477G>A ENST00000260126.3 - 10 2880 c.2174C>T c.(2173-2175)tCt>tTt p.S725F SLCO5A1_ENST00000530307.1_Missense_Mutation_p.S670F|SLCO5A1_ENST00000524945.1_3'UTR NM_030958.2 NP_112220.2 Q9H2Y9 SO5A1_HUMAN solute carrier organic anion transporter family, member 5A1 725 integral to membrane|plasma membrane transporter activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) CTCCCAGCAAGAACCCTGCAC 0.473000 44 149 0 0 1 0 0 LPHN3 23284 broad.mit.edu 37 4 62599156 62599156 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr4:62599156C>T ENST00000512091.1 + 7 1826 c.1079C>T c.(1078-1080)tCa>tTa p.S360L LPHN3_ENST00000545650.1_Missense_Mutation_p.S360L|LPHN3_ENST00000514591.1_Missense_Mutation_p.S360L|LPHN3_ENST00000514996.1_Missense_Mutation_p.S360L|LPHN3_ENST00000506720.1_Missense_Mutation_p.S428L|LPHN3_ENST00000514157.1_Missense_Mutation_p.S360L|LPHN3_ENST00000507164.1_Missense_Mutation_p.S428L|LPHN3_ENST00000507625.1_Missense_Mutation_p.S428L|LPHN3_ENST00000506700.1_Missense_Mutation_p.S360L|LPHN3_ENST00000511324.1_Missense_Mutation_p.S428L|LPHN3_ENST00000508946.1_Missense_Mutation_p.S360L|LPHN3_ENST00000504896.1_Missense_Mutation_p.S360L|LPHN3_ENST00000508693.1_Missense_Mutation_p.S428L|LPHN3_ENST00000506746.1_Missense_Mutation_p.S428L|LPHN3_ENST00000509896.1_Missense_Mutation_p.S428L Q9HAR2 LPHN3_HUMAN latrophilin 3 360 Olfactomedin-like. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding 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 TTTCCTAATTCATACCAGTAC 0.393000 26 17 0 0 1 0 0 PSD 5662 broad.mit.edu 37 10 104175852 104175852 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr10:104175852C>T ENST00000020673.5 - 3 1205 c.679G>A c.(679-681)Gaa>Aaa p.E227K PSD_ENST00000406432.1_Missense_Mutation_p.E227K NM_001270966.1|NM_002779.3 NP_001257895.1|NP_002770.3 A5PKW4 PSD1_HUMAN pleckstrin and Sec7 domain containing 227 regulation of ARF protein signal transduction cytoplasm|plasma membrane|ruffle ARF guanyl-nucleotide exchange factor activity|signal transducer activity breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Epithelial(162;1.27e-08)|all cancers(201;2.85e-07) GAGGAGACTTCCCGGGGGGAG 0.562000 13 4 0 0 1 0 0 RGP1 9827 broad.mit.edu 37 9 35752024 35752024 + Silent SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr9:35752024C>T ENST00000378078.4 + 8 975 c.834C>T c.(832-834)gtC>gtT p.V278V RGP1_ENST00000456972.2_Silent_p.V318V NM_001080496.2 NP_001073965.2 Q92546 RGP1_HUMAN RGP1 retrograde golgi transport homolog (S. cerevisiae) 278 cervix(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 14 all_epithelial(49;0.167) Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) CAGGGGGTGTCCCCTCTGTGT 0.587000 11 28 0 0 1 0 0 IGLV4-69 28784 broad.mit.edu 37 22 22385758 22385758 + RNA SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr22:22385758C>T ENST00000390282.2 + 0 307 PRAMEF24P_ENST00000337471.4_RNA GGACGGGATCCCTGATCGCTT 0.592000 61 69 0 0 1 0 0 FAM47B 170062 broad.mit.edu 37 X 34962583 34962583 + Silent SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chrX:34962583G>A ENST00000329357.5 + 1 1671 c.1635G>A c.(1633-1635)agG>agA p.R545R NM_152631.2 NP_689844.2 Q8NA70 FA47B_HUMAN family with sequence similarity 47, member B 545 breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 71 AGCGTGGGAGGATAAGGTATG 0.498000 79 108 0 0 1 0 0 OVCH2 341277 broad.mit.edu 37 11 7722922 7722922 + RNA SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr11:7722922C>T ENST00000454689.1 - 0 659 OVCH2_ENST00000534193.1_RNA NM_198185.3 NP_937828.3 ovochymase 2 (gene/pseudogene) cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2) 15 Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197) GAAAGGTCTTCCCACTGATGG 0.552000 10 12 0 0 1 0 0 FSCN3 29999 broad.mit.edu 37 7 127235596 127235596 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr7:127235596C>T ENST00000265825.5 + 2 599 c.380C>T c.(379-381)tCc>tTc p.S127F FSCN3_ENST00000420086.2_5'UTR NM_020369.2 NP_065102.1 Q9NQT6 FSCN3_HUMAN fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus) 127 actin cytoskeleton|cytoplasm actin filament binding|protein binding, bridging endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 30 TTTTGCACTTCCCACGTCCTC 0.572000 65 57 0 0 1 0 0 PLA2G4D 283748 broad.mit.edu 37 15 42361069 42361069 + Silent SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr15:42361069G>A ENST00000290472.3 - 20 2395 c.2301C>T c.(2299-2301)acC>acT p.T767T NM_178034.3 NP_828848.3 Q86XP0 PA24D_HUMAN phospholipase A2, group IVD (cytosolic) 767 PLA2c. phospholipid catabolic process cytoplasmic vesicle membrane|cytosol metal ion binding|phospholipase A2 activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1) 27 all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245) OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06) TGTTGGACAGGGTGTAGGGGC 0.652000 16 22 0 0 1 0 0 KLK2 3817 broad.mit.edu 37 19 51379771 51379771 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr19:51379771G>A ENST00000325321.3 + 3 475 c.250G>A c.(250-252)Gaa>Aaa p.E84K KLK2_ENST00000391810.2_5'UTR|KLK2_ENST00000358049.4_Missense_Mutation_p.E84K|KLK2_ENST00000597509.1_3'UTR P20151 KLK2_HUMAN kallikrein-related peptidase 2 84 Peptidase S1. proteolysis serine-type endopeptidase activity KLK2/ETV1(3)|KLK2/ETV4(2) large_intestine(3)|lung(6)|ovary(1)|skin(1) 11 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871) GTTTGAGCCTGAAGACACAGG 0.552000 T ETV4 prostate 22 31 0 0 1 0 0 LCE3D 84648 broad.mit.edu 37 1 152552341 152552341 + Silent SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr1:152552341C>T ENST00000368787.3 - 2 128 c.72G>A c.(70-72)aaG>aaA p.K24K NM_032563.1 NP_115952.1 Q9BYE3 LCE3D_HUMAN late cornified envelope 3D 24 keratinization breast(1)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|stomach(2) 15 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378) GTACTGGGCTCTTTGGGGGAC 0.617000 60 141 0 0 1 0 0 CACNA1D 776 broad.mit.edu 37 3 53810932 53810932 + Silent SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr3:53810932C>T ENST00000288139.3 + 38 4714 c.4596C>T c.(4594-4596)atC>atT p.I1532I CACNA1D_ENST00000350061.5_Silent_p.I1512I|CACNA1D_ENST00000540742.1_Silent_p.I404I|CACNA1D_ENST00000422281.2_Silent_p.I1497I NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit 1512 axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) TTCGACGCATCCAGCCTCCCC 0.517000 29 35 0 0 1 0 0 CD93 22918 broad.mit.edu 37 20 23065386 23065386 + Missense_Mutation SNP C C T rs142122866 TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr20:23065386C>T ENST00000246006.4 - 1 1591 c.1444G>A c.(1444-1446)Gat>Aat p.D482N NM_012072.3 NP_036204.2 Q9NPY3 C1QR1_HUMAN CD93 molecule 482 cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis plasma membrane calcium ion binding|complement component C1q binding|receptor activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118) TCCTCCTCATCGGGGGGCCCA 0.657000 45 75 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16892227 16892227 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr1:16892227G>A ENST00000430580.2 - 27 3852 c.2965C>T c.(2965-2967)Cct>Tct p.P989S NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 989 NBPF 6. cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) CAACTGGAAGGAGTTGAATAA 0.473000 76 2211 0 0 1 0 0 ZDBF2 57683 broad.mit.edu 37 2 207171490 207171490 + Silent SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr2:207171490C>T ENST00000374423.3 + 5 2624 c.2238C>T c.(2236-2238)tcC>tcT p.S746S NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 746 nucleic acid binding|zinc ion binding endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 ATGATTGCTCCAGCTCTGAGT 0.423000 40 109 0 0 1 0 0 MLLT6 4302 broad.mit.edu 37 17 36872712 36872712 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr17:36872712C>T ENST00000325718.7 + 10 1220 c.1129C>T c.(1129-1131)Cct>Tct p.P377S CTB-58E17.9_ENST00000579499.1_RNA NM_005937.3 NP_005928.2 P55198 AF17_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 377 regulation of transcription, DNA-dependent nucleus protein binding|zinc ion binding breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 8 Breast(7;4.43e-21) AGCCCCCGCCCCTTCAGCCCC 0.617000 T MLL AL 18 27 0 0 1 0 0 NUGGC 389643 broad.mit.edu 37 8 27927140 27927140 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr8:27927140C>T ENST00000413272.2 - 4 320 c.178G>A c.(178-180)Gtt>Att p.V60I NUGGC_ENST00000341513.6_Missense_Mutation_p.V60I NM_001010906.1 NP_001010906.1 nuclear GTPase, germinal center associated TTGCTCAAAACCCTTCTGGTC 0.443000 27 25 0 0 1 0 0 OR4M2 390538 broad.mit.edu 37 15 22368704 22368704 + Silent SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr15:22368704C>T ENST00000332663.2 + 1 227 c.129C>T c.(127-129)atC>atT p.I43I RP11-69H14.6_ENST00000558896.1_RNA NM_001004719.2 NP_001004719.2 Q8NGB6 OR4M2_HUMAN olfactory receptor, family 4, subfamily M, member 2 43 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 63 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) CAGGAAATATCCTTATCATTT 0.408000 121 567 0 0 1 0 0 ARAP2 116984 broad.mit.edu 37 4 36126551 36126551 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr4:36126551C>T ENST00000303965.4 - 22 4168 c.3679G>A c.(3679-3681)Gca>Aca p.A1227T NM_015230.3 NP_056045.2 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 1227 Rho-GAP. regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding p.A1227S(1) breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1) 82 CGTATAAATGCTCCATATTTT 0.363000 23 48 0 0 1 0 0 CCNB3 85417 broad.mit.edu 37 X 50085299 50085299 + Silent SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chrX:50085299C>T ENST00000376042.1 + 9 3913 c.3615C>T c.(3613-3615)ctC>ctT p.L1205L CCNB3_ENST00000276014.7_Silent_p.L1205L|CCNB3_ENST00000348603.2_Silent_p.L101L|CCNB3_ENST00000376038.1_Silent_p.L101L Q8WWL7 CCNB3_HUMAN cyclin B3 1205 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle 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) AGTTACAACTCCTTGGTGCCA 0.463000 51 42 0 0 1 0 0 PTPRC 5788 broad.mit.edu 37 1 198685878 198685878 + Silent SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr1:198685878G>A ENST00000367376.2 + 13 1524 c.1353G>A c.(1351-1353)acG>acA p.T451T PTPRC_ENST00000348564.6_Silent_p.T292T|PTPRC_ENST00000442510.2_Silent_p.T453T|PTPRC_ENST00000594404.1_Silent_p.T290T|PTPRC_ENST00000352140.3_Silent_p.T403T NM_002838.4 NP_002829.3 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 451 Fibronectin type-III 1. axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 111 AACCTTATACGAAATATGTTT 0.308000 20 31 0 0 1 0 0 IGHA1 3493 broad.mit.edu 37 14 106174454 106174454 + RNA SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr14:106174454G>A ENST00000390547.2 - 0 334 tggagttgagggagatggggt 0.627000 4 8 0 0 1 0 0 CSF2RB 1439 broad.mit.edu 37 22 37334195 37334195 + Missense_Mutation SNP A A G TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr22:37334195A>G ENST00000262825.5 + 14 2580 c.2363A>G c.(2362-2364)aAc>aGc p.N788S CSF2RB_ENST00000536485.1_Missense_Mutation_p.N729S|CSF2RB_ENST00000406230.1_Missense_Mutation_p.N788S|CSF2RB_ENST00000403662.3_Missense_Mutation_p.N782S NM_000395.2 NP_000386.1 P32927 IL3RB_HUMAN colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) 782 respiratory gaseous exchange granulocyte macrophage colony-stimulating factor receptor complex cytokine receptor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2) 42 Sargramostim(DB00020) TCACCAAGGAACAATCCTGTC 0.647000 36 83 0 0 1 0 0 TTLL6 284076 broad.mit.edu 37 17 46867322 46867322 + Silent SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr17:46867322G>A ENST00000393382.3 - 10 1512 c.1371C>T c.(1369-1371)ttC>ttT p.F457F TTLL6_ENST00000433608.2_Silent_p.F150F NM_001130918.1 NP_001124390.1 Q8N841 TTLL6_HUMAN tubulin tyrosine ligase-like family, member 6 409 cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2) 18 ACTGCTGCAGGAACTGCCCCC 0.527000 23 23 0 0 1 0 0 CHRNA1 1134 broad.mit.edu 37 2 175624067 175624067 + Silent SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr2:175624067G>A ENST00000348749.5 - 3 303 c.226C>T c.(226-228)Ctg>Ttg p.L76L CHRNA1_ENST00000409323.1_Silent_p.L76L|CHRNA1_ENST00000261007.5_Silent_p.L76L|CHRNA1_ENST00000409219.1_Silent_p.L76L|AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000409542.1_Silent_p.L76L NM_000079.3 NP_000070.1 P02708 ACHA_HUMAN cholinergic receptor, nicotinic, alpha 1 (muscle) 76 muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4) 37 ACCTGTTTCAGACGCACATTG 0.433000 38 36 0 0 1 0 0 OR5A1 219982 broad.mit.edu 37 11 59211250 59211250 + Silent SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr11:59211250C>T ENST00000302030.2 + 1 634 c.609C>T c.(607-609)ttC>ttT p.F203F NM_001004728.1 NP_001004728.1 Q8NGJ0 OR5A1_HUMAN olfactory receptor, family 5, subfamily A, member 1 203 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1) 28 TGGTGAATTTCCTCGTGGTGG 0.527000 99 115 0 0 1 0 0 MLXIPL 51085 broad.mit.edu 37 7 73009966 73009966 + Splice_Site SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr7:73009966C>T ENST00000313375.3 - 15 2358 c.e15+1 MLXIPL_ENST00000395189.1_Splice_Site|MLXIPL_ENST00000434326.1_Splice_Site|MLXIPL_ENST00000354613.1_Splice_Site|MLXIPL_ENST00000429400.2_Splice_Site|MLXIPL_ENST00000414749.2_Splice_Site NM_032951.2|NM_032953.2 NP_116569.1|NP_116571.1 Q9NP71 WBS14_HUMAN MLX interacting protein-like anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis cytosol|transcription factor complex carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 13 Lung NSC(55;0.0659)|all_lung(88;0.152) AGGGAGGATACCACCCAGAAC 0.622000 87 48 0 0 1 0 0 SLC5A12 159963 broad.mit.edu 37 11 26725165 26725165 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr11:26725165C>T ENST00000396005.3 - 6 1043 c.734G>A c.(733-735)gGa>gAa p.G245E SLC5A12_ENST00000280467.6_Missense_Mutation_p.G245E NM_178498.3 NP_848593.2 Q1EHB4 SC5AC_HUMAN solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12 245 sodium ion transport apical plasma membrane|integral to membrane symporter activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1) 35 AGTAAAAGTTCCTCCCACTGT 0.418000 70 83 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13817768 13817768 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr5:13817768G>A ENST00000265104.4 - 42 6981 c.6877C>T c.(6877-6879)Ccc>Tcc p.P2293S NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2293 AAA 2 (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) ATCGCTTTGGGATTCATCCTC 0.418000 Kartagener syndrome 29 43 0 0 1 0 0 SLFN12L 100506736 broad.mit.edu 37 17 33802331 33802331 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr17:33802331G>A ENST00000260908.7 - 4 1495 c.1378C>T c.(1378-1380)Ctc>Ttc p.L460F SLFN12L_ENST00000449046.1_Missense_Mutation_p.L491F|SLFN12L_ENST00000361112.4_Missense_Mutation_p.L489F NM_001195790.1 NP_001182719.1 Q6IEE8 SN12L_HUMAN schlafen family member 12-like 492 integral to membrane ATP binding breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1) 16 GCATCACAGAGGACTTTGTGG 0.453000 31 34 0 0 1 0 0 TENM4 26011 broad.mit.edu 37 11 78440669 78440669 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr11:78440669G>A ENST00000278550.7 - 22 3620 c.3158C>T c.(3157-3159)tCt>tTt p.S1053F NM_001098816.2 NP_001092286.2 teneurin transmembrane protein 4 GCCAGAGATAGAGATTTCCTC 0.587000 54 56 0 0 1 0 0 IL1RL2 8808 broad.mit.edu 37 2 102835540 102835540 + Silent SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr2:102835540G>A ENST00000264257.2 + 7 978 c.852G>A c.(850-852)gtG>gtA p.V284V IL1RL2_ENST00000539491.1_Silent_p.V284V|IL1RL2_ENST00000441515.2_Silent_p.V166V|IL1RL2_ENST00000481806.1_3'UTR NM_003854.2 NP_003845.2 Q9HB29 ILRL2_HUMAN interleukin 1 receptor-like 2 284 Ig-like C2-type 3. cellular defense response|innate immune response integral to plasma membrane interleukin-1, Type I, activating receptor activity breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1) 26 GAGAAGGGGTGGAGTAGGTGT 0.403000 47 44 0 0 1 0 0 MARVELD3 91862 broad.mit.edu 37 16 71668215 71668215 + Nonsense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr16:71668215C>T ENST00000268485.3 + 3 759 c.715C>T c.(715-717)Cag>Tag p.Q239* MARVELD3_ENST00000567501.1_Missense_Mutation_p.S52L|MARVELD3_ENST00000299952.4_Intron|MARVELD3_ENST00000565261.1_Intron NM_052858.3 NP_443090.4 Q96A59 MALD3_HUMAN MARVEL domain containing 3 239 MARVEL. integral to membrane NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2) 17 Ovarian(137;0.125) TTACTACTATCAGTTCGGAGG 0.557000 76 122 0 0 1 0 0 ARHGAP44 9912 broad.mit.edu 37 17 12860056 12860056 + Silent SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr17:12860056C>T ENST00000379672.5 + 15 1635 c.1335C>T c.(1333-1335)ttC>ttT p.F445F ARHGAP44_ENST00000340825.3_Silent_p.F445F|ARHGAP44_ENST00000262444.9_Silent_p.F445F NM_014859.4 NP_055674.4 Q17R89 RHG44_HUMAN Rho GTPase activating protein 44 445 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1) 31 ACTGGTTCTTCCCTGGGGGTA 0.522000 15 21 0 0 1 0 0 EPHA7 2045 broad.mit.edu 37 6 93955066 93955066 + Silent SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr6:93955066G>A ENST00000369303.4 - 16 3016 c.2832C>T c.(2830-2832)ttC>ttT p.F944F NM_004440.3 NP_004431.1 Q15375 EPHA7_HUMAN EPH receptor A7 944 SAM. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1) 112 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) CAGCTGCCGTGAAATTATCTT 0.358000 25 33 0 0 1 0 0 GRM8 2918 broad.mit.edu 37 7 126542662 126542662 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr7:126542662C>T ENST00000339582.2 - 6 1898 c.1090G>A c.(1090-1092)Gag>Aag p.E364K GRM8_ENST00000444921.2_Missense_Mutation_p.E364K|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Missense_Mutation_p.E364K|GRM8_ENST00000405249.1_Missense_Mutation_p.E364K O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 364 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) AAATTCTCCTCCCAGAATTCT 0.378000 HNSCC(24;0.065) 25 67 0 0 1 0 0 SELP 6403 broad.mit.edu 37 1 169578900 169578900 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr1:169578900G>A ENST00000263686.6 - 8 1212 c.1175C>T c.(1174-1176)cCt>cTt p.P392L SELP_ENST00000367786.2_Missense_Mutation_p.P330L|SELP_ENST00000367788.2_Missense_Mutation_p.P330L|SELP_ENST00000367793.2_Missense_Mutation_p.P330L|SELP_ENST00000458599.2_Missense_Mutation_p.P330L|SELP_ENST00000367794.2_Missense_Mutation_p.P330L|SELP_ENST00000367792.2_Missense_Mutation_p.P330L|SELP_ENST00000367791.2_Intron NM_003005.3 NP_002996.2 P16109 LYAM3_HUMAN selectin P (granule membrane protein 140kDa, antigen CD62) 392 Sushi 4. platelet activation|platelet degranulation|positive regulation of platelet activation external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(923;0.208) Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775) TCCGTGGACAGGACTCTCCAG 0.493000 27 43 0 0 1 0 0 SCIN 85477 broad.mit.edu 37 7 12666376 12666376 + Silent SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr7:12666376G>A ENST00000297029.5 + 8 1250 c.1149G>A c.(1147-1149)caG>caA p.Q383Q SCIN_ENST00000445618.2_Silent_p.Q136Q|SCIN_ENST00000473722.1_3'UTR|SCIN_ENST00000519209.1_Silent_p.Q136Q NM_001112706.2 NP_001106177.1 Q9Y6U3 ADSV_HUMAN scinderin 383 Ca(2+)-dependent actin binding. actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation cell cortex|cytoskeleton 1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2) 17 UCEC - Uterine corpus endometrioid carcinoma (126;0.195) GTTCTCCGCAGATGGCAGCCC 0.418000 10 10 0 0 1 0 0 DNHD1 144132 broad.mit.edu 37 11 6541303 6541303 + Silent SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr11:6541303C>T ENST00000254579.6 + 9 2320 c.1756C>T c.(1756-1758)Cta>Tta p.L586L DNHD1_ENST00000354685.3_Silent_p.L586L|DNHD1_ENST00000527990.2_Silent_p.L586L NM_144666.2 NP_653267.2 Q96M86 DNHD1_HUMAN dynein heavy chain domain 1 586 microtubule-based movement dynein complex microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 55 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171) Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) AACTGGAGGCCTACAGTCTGT 0.478000 46 46 0 0 1 0 0 OR7G2 390882 broad.mit.edu 37 19 9213515 9213515 + Silent SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr19:9213515G>A ENST00000305456.2 - 1 467 c.468C>T c.(466-468)atC>atT p.I156I NM_001005193.1 NP_001005193.1 Q8NG99 OR7G2_HUMAN olfactory receptor, family 7, subfamily G, member 2 135 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3) 16 GGGGGTTCATGATGACTGTGT 0.493000 19 6 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105416256 105416256 + Silent SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr14:105416256G>A ENST00000333244.5 - 7 5651 c.5532C>T c.(5530-5532)gcC>gcT p.A1844A AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 1844 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CATCCACCGAGGCCTCGATGG 0.602000 256 372 0 0 1 0 0 DSEL 92126 broad.mit.edu 37 18 65179995 65179995 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr18:65179995C>T ENST00000310045.7 - 2 3354 c.1881G>A c.(1879-1881)atG>atA p.M627I CTD-2541J13.2_ENST00000583493.1_RNA NM_032160.2 NP_115536.1 Q8IZU8 DSEL_HUMAN dermatan sulfate epimerase-like 617 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) TATACCTATTCATAAACTTAT 0.353000 32 32 0 0 1 0 0 STPG1 90529 broad.mit.edu 37 1 24687524 24687524 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr1:24687524G>A ENST00000374409.1 - 8 999 c.745C>T c.(745-747)Ccc>Tcc p.P249S STPG1_ENST00000440416.1_Missense_Mutation_p.P202S|GRHL3_ENST00000350501.5_Intron|STPG1_ENST00000337248.4_Missense_Mutation_p.P249S|STPG1_ENST00000003583.8_Missense_Mutation_p.P202S|STPG1_ENST00000468303.1_5'UTR NM_001199012.1 NP_001185941.1 sperm-tail PG-rich repeat containing 1 TTCAGGATGGGGTTTTTCCTT 0.532000 30 26 0 0 1 0 0 FAM90A1 55138 broad.mit.edu 37 12 8377378 8377378 + Silent SNP G G A rs141716045 byFrequency TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr12:8377378G>A ENST00000538603.1 - 4 609 c.51C>T c.(49-51)gcC>gcT p.A17A FAM90A1_ENST00000307435.6_Silent_p.A17A NM_018088.3 NP_060558.3 Q86YD7 F90A1_HUMAN family with sequence similarity 90, member A1 17 nucleic acid binding|zinc ion binding endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 25 Kidney(36;0.0866) GGAGGGTCTGGGCTCTCACCA 0.592000 7 28 0 0 1 0 0 FARP1 10160 broad.mit.edu 37 13 99047654 99047654 + Silent SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr13:99047654G>A ENST00000376586.2 + 13 1674 c.1338G>A c.(1336-1338)gcG>gcA p.A446A FARP1_ENST00000595437.1_Silent_p.A446A|FARP1_ENST00000319562.6_Silent_p.A446A Q9Y4F1 FARP1_HUMAN FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) 446 regulation of Rho protein signal transduction cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1) 49 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.233) CCGCCTCGGCGCCCACGGAGG 0.687000 13 58 0 0 1 0 0 NCKAP5 344148 broad.mit.edu 37 2 133542894 133542894 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr2:133542894C>T ENST00000409261.1 - 14 1863 c.1490G>A c.(1489-1491)aGg>aAg p.R497K NCKAP5_ENST00000317721.6_Missense_Mutation_p.R497K|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 497 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 GCCATGTGGCCTGCAGCTCTG 0.483000 46 41 0 0 1 0 0 OR4N4 283694 broad.mit.edu 37 15 22382565 22382565 + Silent SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr15:22382565C>T ENST00000328795.4 + 1 184 c.93C>T c.(91-93)atC>atT p.I31I RP11-69H14.6_ENST00000558896.1_RNA NM_001005241.2 NP_001005241.2 Q8N0Y3 OR4N4_HUMAN olfactory receptor, family 4, subfamily N, member 4 31 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I31I(1) breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 40 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) TTGTGCTGATCTTAATTTTCT 0.413000 83 436 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9060773 9060773 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr19:9060773C>T ENST00000397910.4 - 3 26876 c.26673G>A c.(26671-26673)atG>atA p.M8891I NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 8893 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGGTCTTCATCATGACAGGGG 0.483000 59 24 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152484039 152484039 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr2:152484039C>T ENST00000427231.2 - 69 10343 c.10141G>A c.(10141-10143)Gat>Aat p.D3381N NEB_ENST00000172853.10_Missense_Mutation_p.D3138N|NEB_ENST00000603639.1_Missense_Mutation_p.D3381N|NEB_ENST00000397345.3_Missense_Mutation_p.D3381N|NEB_ENST00000409198.1_Missense_Mutation_p.D3138N|NEB_ENST00000604864.1_Missense_Mutation_p.D3381N NM_001164507.1 NP_001157979.1 P20929 NEBU_HUMAN nebulin 3381 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) TTACTCACATCGCTCTGGAGG 0.473000 40 113 0 0 1 0 0 FAM46D 169966 broad.mit.edu 37 X 79698960 79698960 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chrX:79698960G>A ENST00000538312.1 + 5 1256 c.922G>A c.(922-924)Gaa>Aaa p.E308K FAM46D_ENST00000308293.5_Missense_Mutation_p.E308K NM_001170574.1 NP_001164045.1 Q8NEK8 FA46D_HUMAN family with sequence similarity 46, member D 308 kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 23 AGTTGTGAATGAAAGCACTGT 0.388000 48 66 0 0 1 0 0 TMEM223 79064 broad.mit.edu 37 11 62559436 62559436 + Missense_Mutation SNP C C G TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr11:62559436C>G ENST00000307366.7 - 1 57 c.31G>C c.(31-33)Ggg>Cgg p.G11R TMEM223_ENST00000525631.1_Missense_Mutation_p.G11R NM_001080501.2 NP_001073970.1 A0PJW6 TM223_HUMAN transmembrane protein 223 11 integral to membrane GCTAGCAGCCCCGTGGGCCAT 0.726000 10 7 0 0 1 0 0 ELMSAN1 91748 broad.mit.edu 37 14 74186187 74186187 + Silent SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr14:74186187G>A ENST00000286523.5 - 12 3737 c.2955C>T c.(2953-2955)atC>atT p.I985I ELMSAN1_ENST00000394071.2_Silent_p.I985I NM_194278.3 NP_919254.2 ELM2 and Myb/SANT-like domain containing 1 GGCTCCGGAGGATGAGGATGT 0.567000 12 25 0 0 1 0 0 ALPK2 115701 broad.mit.edu 37 18 56202594 56202594 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr18:56202594G>A ENST00000361673.3 - 5 5038 c.4825C>T c.(4825-4827)Cct>Tct p.P1609S NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 1609 ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 GAAGTACAAGGGAACCTGGTA 0.433000 37 44 0 0 1 0 0 TRIM69 140691 broad.mit.edu 37 15 45047410 45047410 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr15:45047410C>T ENST00000559390.1 + 3 1247 c.319C>T c.(319-321)Ccc>Tcc p.P107S TRIM69_ENST00000560442.1_Intron|TRIM69_ENST00000329464.4_Missense_Mutation_p.P107S|TRIM69_ENST00000558329.1_Intron|TRIM69_ENST00000561043.1_Intron|TRIM69_ENST00000338264.4_Intron|TRIM69_ENST00000558173.1_5'UTR Q86WT6 TRI69_HUMAN tripartite motif containing 69 107 Necessary for nuclear localization (By similarity). 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) TAAGAAGTTACCCTTACTCAA 0.433000 48 53 0 0 1 0 0 PRICKLE1 144165 broad.mit.edu 37 12 42858400 42858400 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr12:42858400C>T ENST00000455697.1 - 7 1721 c.1436G>A c.(1435-1437)gGa>gAa p.G479E PRICKLE1_ENST00000548696.1_Missense_Mutation_p.G479E|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.G479E|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.G479E|RP11-328C8.4_ENST00000547824.1_RNA|PRICKLE1_ENST00000445766.2_Missense_Mutation_p.G479E NM_001144882.1|NM_001144883.1 NP_001138354.1|NP_001138355.1 Q96MT3 PRIC1_HUMAN prickle homolog 1 (Drosophila) 479 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus cytosol|nuclear membrane zinc ion binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 47 all_cancers(12;4.25e-05)|Breast(8;0.176) GBM - Glioblastoma multiforme(48;0.2) ATCGCCCAGTCCATCTTGTGA 0.458000 24 29 0 0 1 0 0 ANKRD6 22881 broad.mit.edu 37 6 90312801 90312801 + Silent SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr6:90312801C>T ENST00000369408.5 + 4 622 c.273C>T c.(271-273)atC>atT p.I91I ANKRD6_ENST00000520793.1_Silent_p.I91I|ANKRD6_ENST00000485637.1_Silent_p.I91I|ANKRD6_ENST00000522441.1_Silent_p.I91I|ANKRD6_ENST00000520886.2_3'UTR|ANKRD6_ENST00000339746.4_Silent_p.I91I|ANKRD6_ENST00000447838.2_Silent_p.I91I NM_001242813.1 NP_001229742.1 Q9Y2G4 ANKR6_HUMAN ankyrin repeat domain 6 91 protein binding NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2) 21 all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239) BRCA - Breast invasive adenocarcinoma(108;0.0209) CGGAGATCATCGCGGCGCTCA 0.612000 3 11 0 0 1 0 0 ITIH5 80760 broad.mit.edu 37 10 7627883 7627883 + Silent SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr10:7627883G>A ENST00000256861.6 - 8 1167 c.1089C>T c.(1087-1089)caC>caT p.H363H ITIH5_ENST00000397145.2_Silent_p.H363H|ITIH5_ENST00000446830.2_Silent_p.H145H|ITIH5_ENST00000397146.2_Silent_p.H363H|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000298441.6_Silent_p.H149H NM_030569.6 NP_085046.5 Q86UX2 ITIH5_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 5 363 VWFA. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3) 75 GTGACATATGGTGAATGTACA 0.383000 27 41 0 0 1 0 0 OR6A2 8590 broad.mit.edu 37 11 6816325 6816325 + Silent SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr11:6816325G>A ENST00000332601.3 - 1 803 c.615C>T c.(613-615)ttC>ttT p.F205F NM_003696.2 NP_003687.2 O95222 OR6A2_HUMAN olfactory receptor, family 6, subfamily A, member 2 205 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 29 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) TGGCCAGGATGAAATCTGTAA 0.493000 65 100 0 0 1 0 0 ADPRH 141 broad.mit.edu 37 3 119301215 119301215 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr3:119301215C>T ENST00000478399.1 + 2 1604 c.199C>T c.(199-201)Ctt>Ttt p.L67F ADPRH_ENST00000471850.1_Intron|ADPRH_ENST00000357003.3_Missense_Mutation_p.L67F|ADPRH_ENST00000478927.1_Missense_Mutation_p.L67F|ADPRH_ENST00000465513.1_Missense_Mutation_p.L67F P54922 ADPRH_HUMAN ADP-ribosylarginine hydrolase 67 protein de-ADP-ribosylation ADP-ribosylarginine hydrolase activity|magnesium ion binding breast(1)|kidney(1)|lung(10)|ovary(1) 13 Lung NSC(201;0.0977) GBM - Glioblastoma multiforme(114;0.23) AGCAGAAGCTCTTGTGGAAGC 0.557000 35 50 0 0 1 0 0 PTPRC 5788 broad.mit.edu 37 1 198725214 198725214 + Silent SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr1:198725214G>A ENST00000367376.2 + 33 3990 c.3819G>A c.(3817-3819)aaG>aaA p.K1273K PTPRC_ENST00000348564.6_Silent_p.K1114K|PTPRC_ENST00000442510.2_Silent_p.K1275K|PTPRC_ENST00000594404.1_Silent_p.K1112K|PTPRC_ENST00000352140.3_Silent_p.K1225K NM_002838.4 NP_002829.3 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 1273 axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 111 CTGAAGCAAAGGAACAGGCTG 0.433000 38 64 0 0 1 0 0 CEBPZ 10153 broad.mit.edu 37 2 37454865 37454865 + Missense_Mutation SNP T T G TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr2:37454865T>G ENST00000234170.5 - 2 1616 c.1471A>C c.(1471-1473)Aat>Cat p.N491H NM_005760.2 NP_005751.2 Q03701 CEBPZ_HUMAN CCAAT/enhancer binding protein (C/EBP), zeta 491 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 28 all_hematologic(82;0.21) TATGCCCTATTCACACCTGTT 0.358000 32 29 0 0 1 0 0 GAGE12J 729396 broad.mit.edu 37 X 49179741 49179741 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chrX:49179741G>A ENST00000442437.2 + 2 165 c.69G>A c.(67-69)atG>atA p.M23I NM_001098406.1 NP_001091876.1 G antigen 12J kidney(2)|large_intestine(2)|lung(1)|prostate(1) 6 Ovarian(276;0.236) CTCCTGAAATGATTGGGCCTA 0.413000 11 399 0 0 1 0 0 TRIM71 131405 broad.mit.edu 37 3 32932697 32932697 + Silent SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr3:32932697C>T ENST00000383763.4 + 4 2064 c.2001C>T c.(1999-2001)atC>atT p.I667I NM_001039111.1 NP_001034200.1 Q2Q1W2 LIN41_HUMAN tripartite motif containing 71, E3 ubiquitin protein ligase 667 multicellular organismal development cytoplasm zinc ion binding breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 CACGCAGGATCGTGGTGGCTG 0.607000 29 33 0 0 1 0 0 RNF123 63891 broad.mit.edu 37 3 49753020 49753020 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr3:49753020C>T ENST00000327697.6 + 32 3167 c.3023C>T c.(3022-3024)tCc>tTc p.S1008F RNF123_ENST00000433785.1_Missense_Mutation_p.S120F NM_022064.3 NP_071347.2 Q5XPI4 RN123_HUMAN ring finger protein 123 1008 cytoplasm ligase activity|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255) CCCTGCCCTTCCACCCTGCTG 0.622000 14 32 0 0 1 0 0 TTC3 7267 broad.mit.edu 37 21 38537883 38537883 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr21:38537883C>T ENST00000399017.2 + 33 6114 c.3367C>T c.(3367-3369)Ccc>Tcc p.P1123S TTC3_ENST00000355666.1_Missense_Mutation_p.P1123S|TTC3_ENST00000354749.2_Missense_Mutation_p.P1123S|TTC3_ENST00000479930.1_3'UTR NM_003316.3 NP_003307.3 P53804 TTC3_HUMAN tetratricopeptide repeat domain 3 1123 protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5) 75 Myeloproliferative disorder(46;0.0412) GGAACATGGTCCCTTGGACAT 0.338000 88 100 0 0 1 0 0 FSTL5 56884 broad.mit.edu 37 4 162577523 162577523 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr4:162577523C>T ENST00000306100.5 - 7 1287 c.851G>A c.(850-852)aGg>aAg p.R284K FSTL5_ENST00000536695.1_Missense_Mutation_p.R283K|FSTL5_ENST00000427802.2_Missense_Mutation_p.R283K|FSTL5_ENST00000379164.4_Missense_Mutation_p.R283K|FSTL5_ENST00000511170.1_5'UTR NM_001128427.2|NM_020116.4 NP_001121899.1|NP_064501.2 Q8N475 FSTL5_HUMAN follistatin-like 5 284 Ig-like 1. extracellular region calcium ion binding central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 91 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) AATATTGTTCCTTTTCCAGAT 0.353000 12 19 0 0 1 0 0 TBC1D10C 374403 broad.mit.edu 37 11 67171735 67171735 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr11:67171735C>T ENST00000312390.5 + 2 91 c.62C>T c.(61-63)tCc>tTc p.S21F TBC1D10C_ENST00000526387.1_Missense_Mutation_p.S21F|TBC1D10C_ENST00000542590.1_Missense_Mutation_p.S21F NM_198517.3 NP_940919.1 Q8IV04 TB10C_HUMAN TBC1 domain family, member 10C 21 intracellular Rab GTPase activator activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) GACTCCAGCTCCTTGGGGTCC 0.672000 24 27 0 0 1 0 0 POTEF 728378 broad.mit.edu 37 2 130831825 130831825 + Missense_Mutation SNP A A G TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr2:130831825A>G ENST00000357462.5 - 15 3313 c.3220T>C c.(3220-3222)Tgc>Cgc p.C1074R POTEF_ENST00000409914.2_Missense_Mutation_p.C1074R A5A3E0 POTEF_HUMAN POTE ankyrin domain family, member F 1074 Actin-like. cell cortex ATP binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 53 ACCTACAAGCATTTGCGGTGG 0.493000 31 161 0 0 1 0 0 C1orf94 84970 broad.mit.edu 37 1 34666582 34666582 + Missense_Mutation SNP G G A rs142411412 TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr1:34666582G>A ENST00000488417.1 + 3 1339 c.1219G>A c.(1219-1221)Ggg>Agg p.G407R C1orf94_ENST00000373374.3_Missense_Mutation_p.G217R NM_001134734.1 NP_001128206.1 Q6P1W5 CA094_HUMAN chromosome 1 open reading frame 94 217 protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2) 32 Myeloproliferative disorder(586;0.0393) GAACCCAAGCGGGCAGCCGAG 0.582000 15 16 0 0 1 0 0 OR51G2 81282 broad.mit.edu 37 11 4936223 4936223 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr11:4936223G>A ENST00000322013.3 - 1 699 c.671C>T c.(670-672)gCt>gTt p.A224V MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001005238.1 NP_001005238.1 Q8NGK0 O51G2_HUMAN olfactory receptor, family 51, subfamily G, member 2 224 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A224V(1) autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) CAGGATCAGAGCATAAGAGAA 0.522000 17 39 0 0 1 0 0 ZNF479 90827 broad.mit.edu 37 7 57188340 57188340 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr7:57188340C>T ENST00000331162.4 - 5 1052 c.782G>A c.(781-783)aGa>aAa p.R261K NM_033273.1 NP_150376.1 Q96JC4 ZN479_HUMAN zinc finger protein 479 261 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 84 GBM - Glioblastoma multiforme(1;9.18e-12) AGTATGAGTTCTCTTATGTCT 0.423000 53 21 0 0 1 0 0 UBXN11 91544 broad.mit.edu 37 1 26627455 26627455 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr1:26627455G>A ENST00000314675.7 - 4 240 c.161C>T c.(160-162)tCc>tTc p.S54F UBXN11_ENST00000535108.1_Intron|UBXN11_ENST00000374217.2_Intron|UBXN11_ENST00000374221.3_Missense_Mutation_p.S54F|UBXN11_ENST00000436301.2_Intron|UBXN11_ENST00000374223.1_Intron|UBXN11_ENST00000357089.4_Intron|UBXN11_ENST00000374222.1_Missense_Mutation_p.S54F NM_001077262.1 NP_001070730.1 Q5T124 UBX11_HUMAN UBX domain protein 11 54 cytoplasm|cytoskeleton endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3) 23 GCCATAGCAGGAAGGGACTGA 0.617000 56 86 0 0 1 0 0 TAF1L 138474 broad.mit.edu 37 9 32631466 32631466 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr9:32631466G>A ENST00000242310.4 - 1 4201 c.4112C>T c.(4111-4113)cCa>cTa p.P1371L NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 1371 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) TTTCTTCTTTGGAGGAAGCTG 0.463000 98 122 0 0 1 0 0 TKTL1 8277 broad.mit.edu 37 X 153524320 153524320 + Silent SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chrX:153524320C>T ENST00000369915.3 + 1 297 c.108C>T c.(106-108)atC>atT p.I36I TKTL1_ENST00000217905.7_5'UTR NM_001145933.1|NM_012253.3 NP_001139405.1|NP_036385.3 P51854 TKTL1_HUMAN transketolase-like 1 36 glucose catabolic process|thiamine metabolic process cytoplasm|nucleus metal ion binding|transketolase activity NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2) 34 all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-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) TCCATTCCATCAGGGCCACAT 0.622000 108 211 0 0 1 0 0 NEURL3 93082 broad.mit.edu 37 2 97166148 97166148 + RNA SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr2:97166148C>T ENST00000310865.3 - 0 752 neuralized E3 ubiquitin protein ligase 3 TCCCCACCTCCCCTGCGGGGT 0.647000 4 11 0 0 1 0 0 PKD1L1 168507 broad.mit.edu 37 7 47849166 47849166 + Silent SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr7:47849166G>A ENST00000289672.2 - 51 7641 c.7591C>T c.(7591-7593)Ctg>Ttg p.L2531L C7orf69_ENST00000418326.2_Intron|PKD1L1_ENST00000462350.1_5'UTR|C7orf69_ENST00000258776.4_Intron NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 2531 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 CTGAGTGCCAGGAAGACCAGC 0.488000 18 12 0 0 1 0 0 CLDN2 9075 broad.mit.edu 37 X 106172097 106172097 + Silent SNP A A G TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chrX:106172097A>G ENST00000541806.1 + 2 1158 c.639A>G c.(637-639)caA>caG p.Q213Q CLDN2_ENST00000336803.1_Silent_p.Q213Q|CLDN2_ENST00000540876.1_Silent_p.Q213Q NM_001171092.1 NP_001164563.1 P57739 CLD2_HUMAN claudin 2 213 calcium-independent cell-cell adhesion integral to membrane|tight junction identical protein binding|structural molecule activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1) 9 GGCCTGGTCAACCTCCCAAAG 0.537000 69 87 0 0 1 0 0 SLC30A10 55532 broad.mit.edu 37 1 220100392 220100392 + Silent SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr1:220100392C>T ENST00000366926.3 - 2 857 c.696G>A c.(694-696)aaG>aaA p.K232K SLC30A10_ENST00000536446.1_5'UTR NM_018713.2 NP_061183.2 Q6XR72 ZNT10_HUMAN solute carrier family 30, member 10 232 zinc ion transport integral to membrane|plasma membrane cation transmembrane transporter activity NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1) 13 GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209) GAGCTTCAGACTTTTTCTCTT 0.373000 22 35 0 0 1 0 0 TEX14 56155 broad.mit.edu 37 17 56638929 56638929 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr17:56638929G>A ENST00000389934.3 - 30 4346 c.4229C>T c.(4228-4230)cCa>cTa p.P1410L TEX14_ENST00000240361.8_Missense_Mutation_p.P1416L|TEX14_ENST00000349033.5_Missense_Mutation_p.P1370L|TEX14_ENST00000584699.1_5'UTR NM_001201457.1|NM_198393.3 NP_001188386.1|NP_938207.2 Q8IWB6 TEX14_HUMAN testis expressed 14 1416 cytoplasm ATP binding|protein kinase activity p.P1370L(1)|p.P1416L(1) breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 81 Medulloblastoma(34;0.127)|all_neural(34;0.237) CTCCTCAGGTGGCTGCAGCCA 0.498000 72 94 0 0 1 0 0 FGD5 152273 broad.mit.edu 37 3 14960269 14960269 + Silent SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr3:14960269C>T ENST00000285046.5 + 13 3608 c.3498C>T c.(3496-3498)cgC>cgT p.R1166R FGD5_ENST00000543601.1_Silent_p.R925R|FGD5_ENST00000476851.1_3'UTR NM_152536.3 NP_689749.3 Q6ZNL6 FGD5_HUMAN FYVE, RhoGEF and PH domain containing 5 1166 PH 1. actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1) 54 AGGTCAGCCGCCCTGTGATGG 0.597000 25 42 0 0 1 0 0 DPPA2 151871 broad.mit.edu 37 3 109023367 109023367 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr3:109023367G>A ENST00000478945.1 - 7 1055 c.809C>T c.(808-810)tCc>tTc p.S270F NM_138815.3 NP_620170.3 Q7Z7J5 DPPA2_HUMAN developmental pluripotency associated 2 270 nucleus nucleic acid binding p.S270F(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 TATGCCTGGGGATGGGAAAAT 0.478000 27 53 0 0 1 0 0 KIF4A 24137 broad.mit.edu 37 X 69516874 69516874 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chrX:69516874G>A ENST00000374403.3 + 4 344 c.262G>A c.(262-264)Ggg>Agg p.G88R KIF4A_ENST00000485406.1_3'UTR|KIF4A_ENST00000374388.3_Missense_Mutation_p.G88R NM_012310.4 NP_036442.3 O95239 KIF4A_HUMAN kinesin family member 4A 88 Kinesin-motor. anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization chromosome|cytosol|midbody|nuclear matrix|spindle microtubule ATP binding|DNA binding|microtubule motor activity|protein binding breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 51 CCTGGCCTATGGGCAGACTGG 0.413000 41 38 0 0 1 0 0 OR4D5 219875 broad.mit.edu 37 11 123810339 123810339 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr11:123810339C>T ENST00000307033.2 + 1 90 c.16C>T c.(16-18)Cat>Tat p.H6Y NM_001001965.1 NP_001001965.1 Q8NGN0 OR4D5_HUMAN olfactory receptor, family 4, subfamily D, member 5 6 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) TCCAGCAAATCATTCCCAGGT 0.408000 48 71 0 0 1 0 0 ACTL6B 51412 broad.mit.edu 37 7 100246260 100246260 + Silent SNP C C T rs74890254 byFrequency TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr7:100246260C>T ENST00000160382.5 - 7 694 c.588G>A c.(586-588)ggG>ggA p.G196G NM_016188.4 NP_057272.1 O94805 ACL6B_HUMAN actin-like 6B 196 chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nBAF complex|SWI/SNF complex ATP binding|protein binding|structural constituent of cytoskeleton endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1) 13 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) AGATGAAGTCCCCTGCCAGAG 0.612000 21 49 0 0 1 0 0 MAP3K19 80122 broad.mit.edu 37 2 135741363 135741363 + Silent SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr2:135741363C>T ENST00000375845.3 - 8 3135 c.3105G>A c.(3103-3105)agG>agA p.R1035R MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392915.1_Silent_p.R1052R|MAP3K19_ENST00000375844.3_Silent_p.R217R|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000392918.3_Silent_p.R217R|MAP3K19_ENST00000358371.4_Silent_p.R922R NM_025052.3 NP_079328.3 mitogen-activated protein kinase kinase kinase 19 ATTTCTCCTCCCTGTCATATA 0.398000 37 24 0 0 1 0 0 H1FNT 341567 broad.mit.edu 37 12 48723755 48723755 + Silent SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr12:48723755G>A ENST00000335017.1 + 1 993 c.681G>A c.(679-681)ccG>ccA p.P227P NM_181788.1 NP_861453.1 Q75WM6 H1FNT_HUMAN H1 histone family, member N, testis-specific 227 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 ACACCACGCCGAGGTCAGGGA 0.657000 17 25 0 0 1 0 0 CXCR2 3579 broad.mit.edu 37 2 218999718 218999718 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr2:218999718G>A ENST00000318507.2 + 3 621 c.194G>A c.(193-195)gGa>gAa p.G65E NM_001557.3 NP_001548.1 P25025 CXCR2_HUMAN chemokine (C-X-C motif) receptor 2 65 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation cell surface|integral to plasma membrane|mast cell granule interleukin-8 receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1) 22 AGCCTGCTGGGAAACTCCCTC 0.517000 76 78 0 0 1 0 0 IDO1 3620 broad.mit.edu 37 8 39776353 39776353 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr8:39776353C>T ENST00000518237.1 + 4 962 c.323C>T c.(322-324)gCt>gTt p.A108V IDO1_ENST00000522495.1_Missense_Mutation_p.A108V|RP11-44K6.4_ENST00000522970.1_RNA|RP11-44K6.3_ENST00000517623.1_RNA NM_002164.5 NP_002155.1 P14902 I23O1_HUMAN indoleamine 2,3-dioxygenase 1 108 female pregnancy|tryptophan catabolic process cytosol electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2) 12 L-Tryptophan(DB00150) AGAAATATTGCTGTTCCTTAC 0.343000 24 31 0 0 1 0 0 MEI1 150365 broad.mit.edu 37 22 42189838 42189838 + Silent SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr22:42189838C>T ENST00000401548.3 + 27 3391 c.3351C>T c.(3349-3351)gaC>gaT p.D1117D MEI1_ENST00000476893.1_3'UTR|MEI1_ENST00000300398.4_Silent_p.D125D|MEI1_ENST00000400107.1_Silent_p.D450D NM_152513.3 NP_689726.3 Q5TIA1 MEI1_HUMAN meiosis inhibitor 1 1117 binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 TGCAGAAGGACCCTCTATTGT 0.458000 7 23 0 0 1 0 0 BEND2 139105 broad.mit.edu 37 X 18234782 18234782 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chrX:18234782C>T ENST00000380033.4 - 2 229 c.97G>A c.(97-99)Gaa>Aaa p.E33K BEND2_ENST00000380030.3_Missense_Mutation_p.E33K NM_153346.4 NP_699177.2 Q8NDZ0 BEND2_HUMAN BEN domain containing 2 33 NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1) 49 TCTGCTGTTTCAGAAACTTCC 0.373000 14 24 0 0 1 0 0 SCRT2 85508 broad.mit.edu 37 20 644914 644914 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr20:644914C>T ENST00000246104.6 - 2 902 c.325G>A c.(325-327)Gac>Aac p.D109N RP5-850E9.3_ENST00000488788.2_Intron NM_033129.3 NP_149120.1 Q9NQ03 SCRT2_HUMAN scratch family zinc finger 2 109 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding kidney(1)|liver(1)|ovary(1) 3 AAGAAGGCGTCCATGGAGTAG 0.781000 14 8 0 0 1 0 0 FAM214A 56204 broad.mit.edu 37 15 52879396 52879396 + Silent SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr15:52879396G>A ENST00000261844.7 - 11 2981 c.2829C>T c.(2827-2829)tcC>tcT p.S943S FAM214A_ENST00000546305.2_Silent_p.S950S|RP11-23N2.4_ENST00000566344.1_RNA|RP11-23N2.4_ENST00000562062.1_RNA NM_019600.2 NP_062546.2 Q32MH5 K1370_HUMAN family with sequence similarity 214, member A 943 TTTTACCAAGGGACTCTAAAG 0.323000 28 63 0 0 1 0 0 TRAV13-1 28671 broad.mit.edu 37 14 22337072 22337072 + RNA SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr14:22337072C>T ENST00000390436.2 + 0 53 TATTTATATTCCTGTGGCTGC 0.403000 27 24 0 0 1 0 0 LRRC18 474354 broad.mit.edu 37 10 50121772 50121772 + Silent SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr10:50121772C>T ENST00000374160.3 - 1 505 c.429G>A c.(427-429)ctG>ctA p.L143L LRRC18_ENST00000298124.3_Silent_p.L143L|WDFY4_ENST00000413659.2_Intron|RP11-523O18.7_ENST00000430438.1_RNA|WDFY4_ENST00000325239.5_Intron NM_001006939.3 NP_001006940.3 Q8N456 LRC18_HUMAN leucine rich repeat containing 18 143 cytoplasm NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 18 GGAGCTCCTTCAGGGCCCCCA 0.577000 11 6 0 0 1 0 0 RASSF9 9182 broad.mit.edu 37 12 86199629 86199629 + Silent SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr12:86199629G>A ENST00000361228.3 - 2 527 c.159C>T c.(157-159)atC>atT p.I53I NM_005447.3 NP_005438.2 O75901 RASF9_HUMAN Ras association (RalGDS/AF-6) domain family (N-terminal) member 9 53 Ras-associating. endosome transport|protein targeting|signal transduction cytosol|endosome|trans-Golgi network transport vesicle membrane protein binding|transporter activity endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 GCAAAGCCTGGATGACATCAG 0.483000 27 70 0 0 1 0 0 PPAPDC1A 196051 broad.mit.edu 37 10 122348819 122348819 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr10:122348819C>T ENST00000398248.1 + 3 522 c.170C>T c.(169-171)cCt>cTt p.P57L PPAPDC1A_ENST00000439221.1_Silent_p.S144S|PPAPDC1A_ENST00000398250.1_Silent_p.S207S|PPAPDC1A_ENST00000369073.3_Silent_p.S197S Q5VZY2 PPC1A_HUMAN phosphatidic acid phosphatase type 2 domain containing 1A 0 phospholipid dephosphorylation integral to membrane phosphatidate phosphatase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1) 20 Lung NSC(174;0.1)|all_lung(145;0.132) all cancers(201;0.0117) GCCTAGATTCCTTTGTGGGTG 0.443000 68 14 0 0 1 0 0 ARHGAP30 257106 broad.mit.edu 37 1 161022151 161022151 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr1:161022151C>T ENST00000368013.3 - 9 1263 c.943G>A c.(943-945)Gat>Aat p.D315N ARHGAP30_ENST00000368015.1_Missense_Mutation_p.D138N|ARHGAP30_ENST00000368016.3_Missense_Mutation_p.D315N NM_001025598.1|NM_181720.2 NP_001020769.1|NP_859071.2 Q7Z6I6 RHG30_HUMAN Rho GTPase activating protein 30 315 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00122) TTGGATTTATCCTCTGTAAGA 0.587000 128 105 0 0 1 0 0 ZSCAN31 64288 broad.mit.edu 37 6 28297448 28297448 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr6:28297448C>T ENST00000414429.1 - 6 916 c.13G>A c.(13-15)Gag>Aag p.E5K ZSCAN31_ENST00000439158.1_Missense_Mutation_p.E5K|ZSCAN31_ENST00000344279.6_Missense_Mutation_p.E5K|ZSCAN31_ENST00000396838.2_Missense_Mutation_p.E5K|ZSCAN31_ENST00000446474.1_Intron zinc finger and SCAN domain containing 31 p.E5K(1) TACTGTTCCTCTGTTGAAGCC 0.423000 35 96 0 0 1 0 0 BCL11B 64919 broad.mit.edu 37 14 99640787 99640787 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr14:99640787C>T ENST00000345514.2 - 3 2439 c.2173G>A c.(2173-2175)Gac>Aac p.D725N BCL11B_ENST00000443726.2_Missense_Mutation_p.D602N|BCL11B_ENST00000357195.3_Missense_Mutation_p.D796N NM_022898.1 NP_075049.1 Q9C0K0 BC11B_HUMAN B-cell CLL/lymphoma 11B (zinc finger protein) 796 nucleus zinc ion binding NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2) 34 Melanoma(154;0.0866)|all_epithelial(191;0.241) COAD - Colon adenocarcinoma(157;0.103) TCGCACGTGTCGCTGCGGCGG 0.731000 T TLX3 T-ALL 8 13 0 0 1 0 0 TEAD4 7004 broad.mit.edu 37 12 3103988 3103988 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr12:3103988C>T ENST00000359864.2 + 3 246 c.56C>T c.(55-57)cCt>cTt p.P19L TEAD4_ENST00000397122.2_Intron|TEAD4_ENST00000358409.2_Missense_Mutation_p.P19L NM_003213.3 NP_003204.2 Q15561 TEAD4_HUMAN TEA domain family member 4 19 hippo signaling cascade|muscle organ development|skeletal system development DNA binding|protein binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1) 10 Ovarian(42;0.211) OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831) CCCACCTCCCCTGAGGGGAGC 0.642000 46 93 0 0 1 0 0 TET3 200424 broad.mit.edu 37 2 74275305 74275305 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr2:74275305C>T ENST00000409262.3 + 1 1856 c.1856C>T c.(1855-1857)cCc>cTc p.P619L NM_144993.1 NP_659430.1 O43151 TET3_HUMAN tet methylcytosine dioxygenase 3 619 metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 ACCCGTTCCCCCAAGCAAATC 0.597000 6 9 0 0 1 0 0 CHEK2P2 646096 broad.mit.edu 37 15 20489461 20489461 + RNA SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr15:20489461C>T ENST00000555186.1 + 0 449 NR_038836.1 AACACAACTTCATTCCTAAAG 0.428000 9 116 0 0 1 0 0 FNBP1L 54874 broad.mit.edu 37 1 93998573 93998573 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr1:93998573C>T ENST00000260506.8 + 8 885 c.734C>T c.(733-735)tCa>tTa p.S245L FNBP1L_ENST00000370253.2_Missense_Mutation_p.S245L|FNBP1L_ENST00000271234.7_Missense_Mutation_p.S245L|FNBP1L_ENST00000370256.4_Missense_Mutation_p.S245L|FNBP1L_ENST00000604705.1_Missense_Mutation_p.S245L NM_001024948.2|NM_017737.4 NP_001020119.1|NP_060207.2 Q5T0N5 FBP1L_HUMAN formin binding protein 1-like 245 Induction of membrane tubulation (By similarity).|Interaction with CDC42. endocytosis cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane lipid binding breast(2)|kidney(2)|large_intestine(4)|lung(2)|urinary_tract(1) 11 all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155) all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111) CCCATCATTTCAAAATGTTTG 0.353000 40 41 0 0 1 0 0 COL12A1 1303 broad.mit.edu 37 6 75799970 75799970 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr6:75799970C>T ENST00000322507.8 - 63 9106 c.8797G>A c.(8797-8799)Gat>Aat p.D2933N COL12A1_ENST00000511023.1_5'UTR|COL12A1_ENST00000345356.6_Missense_Mutation_p.D1769N|COL12A1_ENST00000416123.2_Missense_Mutation_p.D2857N|COL12A1_ENST00000483888.2_Missense_Mutation_p.D2929N NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 2933 Nonhelical region (NC2). cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 GACTGGTAATCATTTGGAATC 0.547000 157 208 0 0 1 0 0 LETM1 3954 broad.mit.edu 37 4 1824800 1824800 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr4:1824800G>A ENST00000302787.2 - 9 1687 c.1391C>T c.(1390-1392)gCc>gTc p.A464V NM_012318.2 NP_036450.1 O95202 LETM1_HUMAN leucine zipper-EF-hand containing transmembrane protein 1 464 cristae formation integral to membrane|mitochondrial inner membrane calcium ion binding|protein binding breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1) 13 all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141) CTCCAGCTTGGCCTTGTTGTC 0.632000 63 79 0 0 1 0 0 DMBX1 127343 broad.mit.edu 37 1 46976738 46976738 + Silent SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr1:46976738C>T ENST00000371956.4 + 3 495 c.480C>T c.(478-480)acC>acT p.T160T DMBX1_ENST00000360032.3_Silent_p.T155T NM_147192.2 NP_671725.1 Q8NFW5 DMBX1_HUMAN diencephalon/mesencephalon homeobox 1 160 brain development|developmental growth|negative regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Acute lymphoblastic leukemia(166;0.155) CTCCAGATACCCAGCTGGACA 0.642000 44 94 0 0 1 0 0 PCNX 22990 broad.mit.edu 37 14 71576522 71576522 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr14:71576522G>A ENST00000304743.2 + 36 7342 c.6896G>A c.(6895-6897)cGa>cAa p.R2299Q PCNX_ENST00000556272.1_3'UTR|PCNX_ENST00000238570.5_Missense_Mutation_p.R2227Q|PCNX_ENST00000439984.3_Missense_Mutation_p.R2188Q NM_014982.2 NP_055797.2 Q96RV3 PCX1_HUMAN pecanex homolog (Drosophila) 2299 integral to membrane 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) GTGATTCACCGATGGGTGCCT 0.428000 33 45 0 0 1 0 0 FN1 2335 broad.mit.edu 37 2 216262558 216262558 + Missense_Mutation SNP G G A TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr2:216262558G>A ENST00000354785.4 - 22 3731 c.3362C>T c.(3361-3363)cCa>cTa p.P1121L FN1_ENST00000421182.1_Missense_Mutation_p.P1121L|FN1_ENST00000346544.3_Missense_Mutation_p.P1121L|FN1_ENST00000356005.4_Missense_Mutation_p.P1121L|FN1_ENST00000443816.1_Missense_Mutation_p.P1121L|FN1_ENST00000432072.2_Missense_Mutation_p.P1121L|FN1_ENST00000359671.1_Missense_Mutation_p.P1121L|FN1_ENST00000357867.4_Missense_Mutation_p.P1121L|FN1_ENST00000357009.2_Missense_Mutation_p.P1121L|FN1_ENST00000345488.5_Missense_Mutation_p.P1121L|FN1_ENST00000336916.4_Missense_Mutation_p.P1121L|FN1_ENST00000446046.1_Missense_Mutation_p.P1121L|FN1_ENST00000323926.6_Missense_Mutation_p.P1121L P02751 FINC_HUMAN fibronectin 1 1121 Fibronectin type-III 6. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding FN1/ALK(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 109 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TCCCTGGCTTGGTCGTACACC 0.473000 19 43 0 0 1 0 0 TMEM38B 55151 broad.mit.edu 37 9 108456997 108456997 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr9:108456997C>T ENST00000374692.3 + 1 173 c.56C>T c.(55-57)cCc>cTc p.P19L NM_018112.1 NP_060582.1 Q9NVV0 TM38B_HUMAN transmembrane protein 38B 19 integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane potassium channel activity kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 13 TCCATGTTTCCCTTTTTTGAC 0.622000 45 42 0 0 1 0 0 KDM2B 84678 broad.mit.edu 37 12 121882266 121882266 + Missense_Mutation SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr12:121882266C>T ENST00000377069.4 - 15 2490 c.2084G>A c.(2083-2085)gGc>gAc p.G695D KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000542973.1_Missense_Mutation_p.G94D|KDM2B_ENST00000377071.4_Missense_Mutation_p.G726D NM_001005366.1 NP_001005366.1 Q8NHM5 KDM2B_HUMAN lysine (K)-specific demethylase 2B 726 embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 19 CCCGGTCTTGCCGGCGTGGTT 0.627000 OREG0022201 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 80 0 0 1 0 0 LRRC37A11P 342666 broad.mit.edu 37 17 37187477 37187477 + RNA SNP C C T TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr17:37187477C>T ENST00000425901.2 + 0 1319 NR_033753.2 AACACCAGGTCAGGATCAAGC 0.498000 16 22 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 186008983 186008993 + Frame_Shift_Del DEL CTGTTTCTAGT CTGTTTCTAGT - TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr1:186008983_186008993delCTGTTTCTAGT ENST00000271588.4 + 39 6381_6391 c.6152_6162delCTGTTTCTAGT c.(6151-6162)cfs p.PVSS2051fs HMCN1_ENST00000367492.2_Frame_Shift_Del_p.PVSS2051fs NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 2051 Ig-like C2-type 18. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 GATGGGAGTCCTGTTTCTAGTTTTTCTAATG 0.422 27 42 --- --- --- --- TMEM184A 202915 broad.mit.edu 37 7 1586662 1586663 + In_Frame_Ins INS - - GCC rs3837151 by1000genomes TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr7:1586662_1586663insGCC ENST00000297477.5 - 9 1483_1484 c.1167_1168insGGC c.(1165-1170)ccgcgg>ccGGCgcgg p.389_390PR>PAR NM_001097620.1 NP_001091089.1 Q6ZMB5 T184A_HUMAN transmembrane protein 184A 389 integral to membrane endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 12 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15) GAGCCGCCGCTGGGGTGGGTGC 0.703 7 68 --- --- --- --- RB1 5925 broad.mit.edu 37 13 49039149 49039179 + Frame_Shift_Del DEL TTGATCAAAGAAGAGGAGTATGATTCTATTA TTGATCAAAGAAGAGGAGTATGATTCTATTA - rs3092905 TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr13:49039149_49039179delTTGATCAAAGAAGAGGAGTATGATTCTATTA ENST00000267163.4 + 22 2365_2395 c.2227_2257delTTGATCAAAGAAGAGGAGTATGATTCTATTA c.(2227-2259)tafs p.LIKEEEYDSII743fs NM_000321.2 NP_000312.2 P06400 RB_HUMAN retinoblastoma 1 743 Domain B.|Pocket; binds T and E1A. androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.0?(15)|p.?(12)|p.E748*(3)|p.E748fs*6(1)|p.L743fs*1(1)|p.E747*(1)|p.K745I(1) NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31) 496 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CAAACGTGTTTTGATCAAAGAAGAGGAGTATGATTCTATTATAGTATTCTA 0.281 E748*(NCIH69_LUNG) 6 """D, Mis, N, F, S""" """retinoblastoma, sarcoma, breast, small cell lung""" """retinoblastoma, sarcoma, breast, small cell lung""" Hereditary Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 4 8 --- --- --- --- LOC101060604 101060604 broad.mit.edu 37 16 21469994 21469994 + RNA DEL A A - TCGA-EB-A5FP-01A-11D-A27K-08 TCGA-EB-A5FP-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx f83f6ee1-ab8b-40d9-9625-3d12eca95ddb e1343ffc-eb4a-4c15-bf2b-de951787f0d8 g.chr16:21469994delA ENST00000520823.2 - 0 749 ACTGTACATTAAAAAAAAAAA 0.294 2 4 --- --- --- ---