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 CNOT2 4848 broad.mit.edu 37 12 70724190 70724190 + Silent SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr12:70724190G>A ENST00000229195.3 + 6 1089 c.510G>A c.(508-510)tcG>tcA p.S170S CNOT2_ENST00000548230.1_3'UTR|CNOT2_ENST00000418359.3_Silent_p.S170S NM_014515.5 NP_055330.1 Q9NZN8 CNOT2_HUMAN CCR4-NOT transcription complex, subunit 2 170 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter cytosol|nucleus protein binding|RNA polymerase II transcription cofactor activity p.S170S(2) cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1) 20 Renal(347;0.236) GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118) ACAGAAGCTCGCCAAGCATAA 0.453000 8 55 0 0 0.004482 0 0 MDGA1 266727 broad.mit.edu 37 6 37631827 37631827 + Missense_Mutation SNP G G T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr6:37631827G>T ENST00000434837.2 - 2 1301 c.123C>A c.(121-123)gaC>gaA p.D41E MDGA1_ENST00000297153.7_Missense_Mutation_p.D41E|MDGA1_ENST00000505425.1_Missense_Mutation_p.D41E NM_153487.3 NP_705691.1 Q8NFP4 MDGA1_HUMAN MAM domain containing glycosylphosphatidylinositol anchor 1 41 Ig-like 1. brain development|neuron migration|spinal cord association neuron differentiation anchored to plasma membrane central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1) 38 CGCTGATATTGTCCTCTTTCA 0.612000 21 77 1.50039e-11 4.01174e-11 0.012319 1 0 PLEKHG3 26030 broad.mit.edu 37 14 65208364 65208364 + Missense_Mutation SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr14:65208364C>T ENST00000247226.7 + 14 2269 c.1961C>T c.(1960-1962)tCc>tTc p.S654F PLEKHG3_ENST00000492928.1_3'UTR|PLEKHG3_ENST00000484731.2_Missense_Mutation_p.S215F|PLEKHG3_ENST00000471182.2_Missense_Mutation_p.S243F|PLEKHG3_ENST00000394691.1_Missense_Mutation_p.S710F NM_015549.1 NP_056364.1 A1L390 PKHG3_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 3 710 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2) 29 all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485) TCAGCACTCTCCACCCGAGAC 0.567000 21 36 0 0 0.014323 0 0 LAMA4 3910 broad.mit.edu 37 6 112437103 112437103 + Missense_Mutation SNP T T C TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr6:112437103T>C ENST00000230538.7 - 36 5472 c.5075A>G c.(5074-5076)aAt>aGt p.N1692S LAMA4_ENST00000522006.1_Missense_Mutation_p.N1685S|LAMA4_ENST00000389463.4_Missense_Mutation_p.N1685S|LAMA4_ENST00000424408.2_Missense_Mutation_p.N1685S NM_001105206.2 NP_001098676.2 Q16363 LAMA4_HUMAN laminin, alpha 4 1692 Laminin G-like 5. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8) 100 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) GTACTCCCCATTGACACTGTG 0.418000 27 58 0 0 0.006320 0 0 MYO5B 4645 broad.mit.edu 37 18 47432876 47432876 + Missense_Mutation SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr18:47432876C>T ENST00000285039.7 - 19 2626 c.2327G>A c.(2326-2328)cGg>cAg p.R776Q NM_001080467.2 NP_001073936.1 Q9ULV0 MYO5B_HUMAN myosin VB 776 IQ 1. protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) CAGCCATCCCCGGACAGTTTT 0.592000 7 42 0 0 0.001984 0 0 EPPK1 83481 broad.mit.edu 37 8 144946505 144946505 + Missense_Mutation SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr8:144946505G>A ENST00000525985.1 - 2 988 c.917C>T c.(916-918)aCc>aTc p.T306I P58107 EPIPL_HUMAN epiplakin 1 306 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CAGGTGCTCGGTGGCAGCCTG 0.682000 29 147 0 0 0.003271 0 0 S100A10 6281 broad.mit.edu 37 1 151958577 151958577 + Missense_Mutation SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr1:151958577C>T ENST00000368811.3 - 2 789 c.130G>A c.(130-132)Gaa>Aaa p.E44K S100A10_ENST00000478574.1_5'UTR|S100A10_ENST00000368809.1_Missense_Mutation_p.E44K NM_002966.2 NP_002957.1 P60903 S10AA_HUMAN S100 calcium binding protein A10 44 signal transduction calcium ion binding|receptor binding breast(1)|kidney(1)|lung(2)|ovary(2) 6 Melanoma(130;0.0648)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) ACACTTACTTCCAAAAATCCA 0.418000 10 87 0 0 0.010729 0 0 PPARG 5468 broad.mit.edu 37 3 12458329 12458329 + Missense_Mutation SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr3:12458329C>T ENST00000397026.2 + 8 1263 c.880C>T c.(880-882)Cgc>Tgc p.R294C PPARG_ENST00000309576.6_Missense_Mutation_p.R288C|PPARG_ENST00000397012.2_Missense_Mutation_p.R288C|PPARG_ENST00000397000.1_Intron|PPARG_ENST00000397015.2_Missense_Mutation_p.R288C|PPARG_ENST00000287820.6_Missense_Mutation_p.R316C|PPARG_ENST00000397010.2_Missense_Mutation_p.R288C|PPARG_ENST00000539812.1_Intron P37231 PPARG_HUMAN peroxisome proliferator-activated receptor gamma 316 activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation cytosol|nucleoplasm activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding PAX8/PPARG(117) breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1) 20 Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197) CTGCCAGTTTCGCTCCGTGGA 0.478000 T PAX8 follicular thyroid """Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension""" 111 265 0 0 0.014410 0 0 SNAPC4 6621 broad.mit.edu 37 9 139279172 139279172 + Splice_Site SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr9:139279172C>T ENST00000298532.2 - 13 1788 c.1420_splice c.e13+1 p.G474_splice NM_003086.2 NP_003077.2 Q5SXM2 SNPC4_HUMAN small nuclear RNA activating complex, polypeptide 4, 190kDa 474 HTH myb-type 3. snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter snRNA-activating protein complex DNA binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 33 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06) AGCAACTTACCGACACCATAT 0.353000 7 19 0 0 0.001984 0 0 OR10W1 81341 broad.mit.edu 37 11 58034422 58034422 + Silent SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr11:58034422C>T ENST00000395079.2 - 1 1310 c.909G>A c.(907-909)caG>caA p.Q303Q NM_207374.3 NP_997257.2 Q8NGF6 O10W1_HUMAN olfactory receptor, family 10, subfamily W, member 1 303 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1) 26 Breast(21;0.0589) CCTAGCTGTTCTGGGAAAGGC 0.478000 14 56 0 0 0.003163 0 0 KCNQ5 56479 broad.mit.edu 37 6 73904753 73904753 + Silent SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr6:73904753G>A ENST00000342056.2 + 15 2870 c.2472G>A c.(2470-2472)agG>agA p.R824R KCNQ5_ENST00000402622.2_Silent_p.R815R|KCNQ5_ENST00000414165.2_Silent_p.R695R|KCNQ5_ENST00000403813.2_Silent_p.R796R|KCNQ5_ENST00000370398.1_Silent_p.R805R|KCNQ5_ENST00000355635.3_Silent_p.R806R|KCNQ5_ENST00000355194.4_Silent_p.R805R NM_001160132.1|NM_001160133.1 NP_001153604.1|NP_001153605.1 Q9NR82 KCNQ5_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 5 805 protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) GTTCTATGAGGAAAAGCTTTG 0.483000 13 51 0 0 0.002450 0 0 KRTAP10-1 386677 broad.mit.edu 37 21 45959675 45959675 + Missense_Mutation SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr21:45959675G>A ENST00000400375.1 - 1 403 c.359C>T c.(358-360)tCa>tTa p.S120L TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron NM_198691.2 NP_941964.2 P60331 KR101_HUMAN keratin associated protein 10-1 120 24 X 5 AA repeats of C-C-X(3). keratin filament breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1) 11 CTGGCAGCATGAAGAGGAATC 0.622000 13 41 0 0 0.003163 0 0 HSPA5 3309 broad.mit.edu 37 9 128000451 128000451 + Missense_Mutation SNP A A T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr9:128000451A>T ENST00000324460.6 - 7 1574 c.1371T>A c.(1369-1371)aaT>aaA p.N457K NM_005347.4 NP_005338.1 P11021 GRP78_HUMAN heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) 457 anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1) 23 Antihemophilic Factor(DB00025) CAGTTGGTTGATTATCAGAAG 0.393000 Prostate(1;0.17) 13 45 0 0 0.002450 0 0 RAD51AP2 729475 broad.mit.edu 37 2 17698712 17698712 + Missense_Mutation SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr2:17698712G>A ENST00000399080.2 - 1 994 c.971C>T c.(970-972)tCc>tTc p.S324F NM_001099218.2 NP_001092688.1 Q09MP3 R51A2_HUMAN RAD51 associated protein 2 324 endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) ATAACATTTGGAAAAAATGTT 0.343000 12 31 0 0 0.002450 0 0 HTR3A 3359 broad.mit.edu 37 11 113860273 113860273 + Missense_Mutation SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr11:113860273C>T ENST00000504030.2 + 9 1670 c.1225C>T c.(1225-1227)Cgg>Tgg p.R409W HTR3A_ENST00000355556.2_Missense_Mutation_p.R447W|HTR3A_ENST00000375498.2_Missense_Mutation_p.R415W|HTR3A_ENST00000299961.5_Missense_Mutation_p.R394W|HTR3A_ENST00000506841.2_Missense_Mutation_p.R441W|HTR3A_ENST00000535865.1_Missense_Mutation_p.R153W P46098 5HT3A_HUMAN 5-hydroxytryptamine (serotonin) receptor 3A, ionotropic 409 R -> Q. digestion|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 36 all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191) Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199) CCCACCACCTCGGGAGGCCTC 0.637000 24 56 0 0 0.003330 0 0 IQGAP3 128239 broad.mit.edu 37 1 156501015 156501015 + Silent SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr1:156501015G>A ENST00000361170.2 - 33 4138 c.4128C>T c.(4126-4128)atC>atT p.I1376I NM_178229.4 NP_839943.2 Q86VI3 IQGA3_HUMAN IQ motif containing GTPase activating protein 3 1376 small GTPase mediated signal transduction intracellular calmodulin binding|Ras GTPase activator activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3) 75 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GGAACTGTATGATATCGGCCA 0.587000 13 62 0 0 0.002450 0 0 PLEKHA7 144100 broad.mit.edu 37 11 16838742 16838742 + Silent SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr11:16838742G>A ENST00000355661.3 - 11 1481 c.1471C>T c.(1471-1473)Ctg>Ttg p.L491L PLEKHA7_ENST00000448080.2_Silent_p.L491L|PLEKHA7_ENST00000531066.1_Silent_p.L491L|PLEKHA7_ENST00000532079.1_Intron Q6IQ23 PKHA7_HUMAN pleckstrin homology domain containing, family A member 7 491 epithelial cell-cell adhesion|zonula adherens maintenance centrosome|zonula adherens delta-catenin binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 37 TCACTTGGCAGGTTTCGGGGA 0.632000 27 90 0 0 0.009535 0 0 SCN3A 6328 broad.mit.edu 37 2 165987886 165987886 + Silent SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr2:165987886G>A ENST00000360093.3 - 16 2924 c.2433C>T c.(2431-2433)atC>atT p.I811I SCN3A_ENST00000283254.7_Silent_p.I811I|SCN3A_ENST00000409101.3_Silent_p.I762I NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 811 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) CCATGGCAATGATCTTGAGAA 0.388000 21 57 0 0 0.002780 0 0 LARP4B 23185 broad.mit.edu 37 10 890981 890981 + Nonsense_Mutation SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr10:890981G>A ENST00000316157.3 - 5 485 c.445C>T c.(445-447)Caa>Taa p.Q149* NM_015155.1 NP_055970.1 Q92615 LAR4B_HUMAN La ribonucleoprotein domain family, member 4B 149 nucleotide binding|RNA binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2) 38 CTGTCTGGTTGAGACTCATTT 0.378000 11 29 0 0 0.010729 0 0 ABCA12 26154 broad.mit.edu 37 2 215854087 215854087 + Silent SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr2:215854087G>A ENST00000272895.7 - 26 4014 c.3795C>T c.(3793-3795)ttC>ttT p.F1265F ABCA12_ENST00000389661.4_Silent_p.F947F NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 1265 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) AAGCAATAAGGAAATAAATGA 0.403000 6 30 0 0 0.001168 0 0 CPN2 1370 broad.mit.edu 37 3 194062482 194062482 + Missense_Mutation SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr3:194062482G>A ENST00000323830.3 - 2 1039 c.950C>T c.(949-951)tCc>tTc p.S317F CPN2_ENST00000429275.1_Missense_Mutation_p.S317F NM_001080513.2 NP_001073982.2 P22792 CPN2_HUMAN carboxypeptidase N, polypeptide 2 317 protein stabilization extracellular region enzyme regulator activity breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1) 27 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.65e-05) GAGCATGAGGGAACGCAGGTT 0.572000 11 26 0 0 0.010729 0 0 PREX2 80243 broad.mit.edu 37 8 69009415 69009415 + Silent SNP T T A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr8:69009415T>A ENST00000288368.4 + 22 2809 c.2532T>A c.(2530-2532)ggT>ggA p.G844G 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 2 844 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 AGCCCAAAGGTTTCTTCAGCT 0.423000 5 58 0 0 0.001168 0 0 NIPAL4 348938 broad.mit.edu 37 5 156899544 156899544 + Missense_Mutation SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr5:156899544C>T ENST00000311946.7 + 6 1093 c.977C>T c.(976-978)cCc>cTc p.P326L ADAM19_ENST00000430702.2_Intron|NIPAL4_ENST00000435489.2_Missense_Mutation_p.P307L NM_001099287.1 NP_001092757.1 Q0D2K0 NIPA4_HUMAN NIPA-like domain containing 4 326 integral to membrane receptor activity breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1) 22 CACCCGCTCCCCTACATCCTG 0.577000 OREG0016979 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 37 92 0 0 0.004878 0 0 MOK 5891 broad.mit.edu 37 14 102718264 102718264 + Missense_Mutation SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr14:102718264G>A ENST00000361847.2 - 5 583 c.352C>T c.(352-354)Cat>Tat p.H118Y MOK_ENST00000193029.6_5'UTR|MOK_ENST00000522874.1_Missense_Mutation_p.H118Y|MOK_ENST00000524214.1_Missense_Mutation_p.H88Y NM_014226.1 NP_055041.1 Q9UQ07 MOK_HUMAN MOK protein kinase 118 Protein kinase. signal transduction Golgi apparatus ATP binding|cyclin-dependent protein kinase activity|protein binding CTGTGAATATGATCCAGGGAC 0.323000 10 25 0 0 0.010729 0 0 LRRIQ3 127255 broad.mit.edu 37 1 74507410 74507410 + Missense_Mutation SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr1:74507410C>T ENST00000354431.4 - 7 1396 c.1205G>A c.(1204-1206)cGg>cAg p.R402Q LRRIQ3_ENST00000395089.1_Missense_Mutation_p.R402Q NM_001105659.1 NP_001099129.1 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 402 p.R402Q(2) NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5) 73 TTTCATACTCCGCTCCAATCG 0.353000 11 26 0 0 0.010729 0 0 ACAN 176 broad.mit.edu 37 15 89402228 89402228 + Missense_Mutation SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr15:89402228G>A ENST00000439576.2 + 12 6786 c.6412G>A c.(6412-6414)Gaa>Aaa p.E2138K ACAN_ENST00000561243.1_Missense_Mutation_p.E2138K|ACAN_ENST00000352105.7_Missense_Mutation_p.E2138K|ACAN_ENST00000559004.1_Missense_Mutation_p.E2138K NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 2138 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) TGCATTCCACGAAGCTAACCT 0.577000 20 52 0 0 0.010504 0 0 PCDHA13 56136 broad.mit.edu 37 5 140262123 140262123 + Silent SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr5:140262123C>T ENST00000289272.2 + 1 270 c.270C>T c.(268-270)atC>atT p.I90I PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA13_ENST00000409494.1_Silent_p.I90I|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron NM_018904.2|NM_031865.1 NP_061727.1|NP_114071.1 NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATTCTCGGATCGACCGCGAGG 0.592000 35 154 0 0 0.006999 0 0 TTN 7273 broad.mit.edu 37 2 179588856 179588856 + Missense_Mutation SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr2:179588856G>A ENST00000589042.1 - 73 21354 c.21130C>T c.(21130-21132)Ccc>Tcc p.P7044S RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P6727S|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P5800S NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 6727 Ig-like 52. 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) GTGAAAGAGGGAGGAACTGCT 0.418000 7 11 0 0 0.003080 0 0 CD2AP 23607 broad.mit.edu 37 6 47576922 47576922 + Missense_Mutation SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr6:47576922C>T ENST00000359314.5 + 16 2152 c.1696C>T c.(1696-1698)Cca>Tca p.P566S CD2AP_ENST00000486693.1_3'UTR NM_012120.2 NP_036252.1 Q9Y5K6 CD2AP_HUMAN CD2-associated protein 566 cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle SH3 domain binding|structural constituent of cytoskeleton kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 20 Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138) TTTCCTGACTCCATTAGAAAT 0.343000 11 24 0 0 0.010729 0 0 OR4N2 390429 broad.mit.edu 37 14 20296402 20296402 + Silent SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr14:20296402C>T ENST00000315947.1 + 1 795 c.795C>T c.(793-795)ttC>ttT p.F265F OR4N2_ENST00000568211.1_3'UTR NM_001004723.1 NP_001004723.1 Q8NGD1 OR4N2_HUMAN olfactory receptor, family 4, subfamily N, member 2 265 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2) 52 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TCAGGGCTTTCCCAGCTGACA 0.453000 19 23 0 0 0.014323 0 0 BMPER 168667 broad.mit.edu 37 7 34091542 34091542 + Missense_Mutation SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr7:34091542C>T ENST00000297161.2 + 9 1120 c.746C>T c.(745-747)tCc>tTc p.S249F BMPER_ENST00000426693.1_Missense_Mutation_p.S249F|BMPER_ENST00000494786.1_3'UTR NM_133468.4 NP_597725.1 Q8N8U9 BMPER_HUMAN BMP binding endothelial regulator 249 VWFC 4. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation extracellular space breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 GACAATGGATCCTCATTTCTG 0.463000 51 128 0 0 0.014410 0 0 BDP1 55814 broad.mit.edu 37 5 70782429 70782429 + Silent SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr5:70782429C>T ENST00000358731.4 + 9 1451 c.1188C>T c.(1186-1188)tcC>tcT p.S396S BDP1_ENST00000380675.2_5'UTR NM_018429.2 NP_060899.2 A6H8Y1 BDP1_HUMAN B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB 396 Required for phosphorylation by CSNK2A1. regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) AGAAGAAATCCACCAAACCAC 0.318000 9 28 0 0 0.008291 0 0 ERBB4 2066 broad.mit.edu 37 2 212568876 212568876 + Silent SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr2:212568876G>A ENST00000342788.4 - 11 1552 c.1242C>T c.(1240-1242)ttC>ttT p.F414F ERBB4_ENST00000436443.1_Silent_p.F414F|ERBB4_ENST00000402597.1_Silent_p.F414F NM_005235.2 NP_005226.1 Q15303 ERBB4_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 414 cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) AAAAAACACTGAAGTCAGTCA 0.388000 TSP Lung(8;0.080) 21 55 0 0 0.003954 0 0 PCF11 51585 broad.mit.edu 37 11 82880555 82880555 + Missense_Mutation SNP G G T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr11:82880555G>T ENST00000298281.4 + 8 3630 c.3178G>T c.(3178-3180)Ggt>Tgt p.G1060C NM_015885.3 NP_056969.2 O94913 PCF11_HUMAN PCF11 cleavage and polyadenylation factor subunit 1060 Gly-rich. mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage factor complex cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1) 33 TGGTCAGCCAGGTCCTAGATT 0.507000 11 32 0.000978159 0.00256063 0.010729 1 0 CAMKV 79012 broad.mit.edu 37 3 49899749 49899749 + Missense_Mutation SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr3:49899749C>T ENST00000477224.1 - 2 551 c.73G>A c.(73-75)Gat>Aat p.D25N CAMKV_ENST00000463537.1_Missense_Mutation_p.D25N|CAMKV_ENST00000488336.1_Missense_Mutation_p.D25N|CAMKV_ENST00000296471.7_Missense_Mutation_p.D25N|CAMKV_ENST00000467248.1_Intron|CAMKV_ENST00000466940.1_Missense_Mutation_p.D25N|CAMKV_ENST00000498324.1_5'UTR Q8NCB2 CAMKV_HUMAN CaM kinase-like vesicle-associated 25 Protein kinase. cytoplasmic vesicle membrane|plasma membrane ATP binding|protein serine/threonine kinase activity central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2) 7 BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) TGTCCCAAATCATATCTGTCA 0.577000 8 30 0 0 0.003080 0 0 MACF1 23499 broad.mit.edu 37 1 39549971 39549971 + Silent SNP G G A rs78058438 TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr1:39549971G>A ENST00000567887.1 + 1 238 c.81G>A c.(79-81)agG>agA p.R27R MACF1_ENST00000539005.1_Silent_p.R27R|MACF1_ENST00000545844.1_Silent_p.R27R|MACF1_ENST00000317713.7_Silent_p.R27R|MACF1_ENST00000484793.1_Silent_p.R27R|MACF1_ENST00000602421.1_Silent_p.R27R|MACF1_ENST00000372915.3_Silent_p.R27R|MACF1_ENST00000361689.2_Silent_p.R27R Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 27 Actin-binding. cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) GATCTTACAGGAGCGAGCGGT 0.617000 6 23 0 0 0.003080 0 0 DOCK4 9732 broad.mit.edu 37 7 111398733 111398733 + Missense_Mutation SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr7:111398733G>A ENST00000428084.1 - 41 4548 c.4276C>T c.(4276-4278)Cgc>Tgc p.R1426C DOCK4_ENST00000437633.1_Missense_Mutation_p.R1417C|DOCK4_ENST00000494651.2_Missense_Mutation_p.R300C Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 1417 DHR-2. cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4) 72 Acute lymphoblastic leukemia(1;0.0441) CGGTCATAGCGGAATTTCCAG 0.438000 13 18 0 0 0.003163 0 0 ZBED4 9889 broad.mit.edu 37 22 50277928 50277928 + Missense_Mutation SNP C C G TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr22:50277928C>G ENST00000216268.4 + 2 1095 c.618C>G c.(616-618)atC>atG p.I206M NM_014838.2 NP_055653.2 O75132 ZBED4_HUMAN zinc finger, BED-type containing 4 206 cytoplasm|nucleus DNA binding|metal ion binding|protein dimerization activity breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 44 all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247) TCTCACCCATCAAACTTGTCC 0.547000 12 28 0 0 0.001855 0 0 OR10G2 26534 broad.mit.edu 37 14 22102844 22102844 + Missense_Mutation SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr14:22102844G>A ENST00000542433.1 - 1 252 c.155C>T c.(154-156)aCc>aTc p.T52I NM_001005466.1 NP_001005466.1 Q8NGC3 O10G2_HUMAN olfactory receptor, family 10, subfamily G, member 2 52 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2) 22 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0142) AGCCCACATGGTGAGCAGAAT 0.542000 15 25 0 0 0.002450 0 0 RABL2B 11158 broad.mit.edu 37 22 51208364 51208364 + Silent SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr22:51208364G>A ENST00000395595.3 - 7 845 c.378C>T c.(376-378)atC>atT p.I126I RABL2B_ENST00000465063.1_5'UTR|RABL2B_ENST00000435118.1_Silent_p.I126I|RABL2B_ENST00000395591.1_Intron|RABL2B_ENST00000354869.3_Silent_p.I126I|RABL2B_ENST00000395598.3_Silent_p.I126I|RABL2B_ENST00000395593.3_Silent_p.I126I NM_001130921.1 NP_001124393.1 Q9UNT1 RBL2B_HUMAN RAB, member of RAS oncogene family-like 2B 126 small GTPase mediated signal transduction GTP binding|GTPase activity lung(1) 1 all_cancers(38;8.8e-15)|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;0.0539)|LUAD - Lung adenocarcinoma(64;0.247) CGATGCATGGGATCTCTGGCC 0.522000 10 30 0 0 0.010729 0 0 OR2F2 135948 broad.mit.edu 37 7 143632411 143632411 + Missense_Mutation SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr7:143632411C>T ENST00000408955.2 + 1 153 c.86C>T c.(85-87)tCc>tTc p.S29F NM_001004685.1 NP_001004685.1 O95006 OR2F2_HUMAN olfactory receptor, family 2, subfamily F, member 2 29 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1) 32 Melanoma(164;0.0903) TCCCTGTTTTCCCTGTTCTTG 0.448000 70 86 0 0 0.014410 0 0 IL7R 3575 broad.mit.edu 37 5 35876087 35876087 + Missense_Mutation SNP T T A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr5:35876087T>A ENST00000303115.3 + 8 1008 c.879T>A c.(877-879)aaT>aaA p.N293K IL7R_ENST00000343305.4_Missense_Mutation_p.I262N NM_002185.3 NP_002176.2 P16871 IL7RA_HUMAN interleukin 7 receptor 293 immune response|regulation of DNA recombination extracellular region|integral to membrane antigen binding|interleukin-7 receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3) 126 all_lung(31;0.00015) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202) CTGTGCAGAATTTAAATGTGA 0.413000 """Mis, O""" """ALL, ETP ALL""" Severe combined immune deficiency 4 32 0 0 0.009096 0 0 RAMP3 10268 broad.mit.edu 37 7 45216990 45216990 + Missense_Mutation SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr7:45216990G>A ENST00000242249.4 + 2 179 c.141G>A c.(139-141)atG>atA p.M47I RAMP3_ENST00000481345.1_Missense_Mutation_p.M47I|RAMP3_ENST00000496212.1_Missense_Mutation_p.M47I NM_005856.2 NP_005847.1 O60896 RAMP3_HUMAN receptor (G protein-coupled) activity modifying protein 3 47 intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway integral to plasma membrane|lysosome protein transporter activity breast(1)|endometrium(1)|large_intestine(4)|lung(4)|stomach(1) 11 Pramlintide(DB01278) TCGCAGACATGATGGGCAAGG 0.617000 12 58 0 0 0.013537 0 0 MKL1 57591 broad.mit.edu 37 22 40819558 40819558 + Silent SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr22:40819558G>A ENST00000396617.3 - 9 1199 c.609C>T c.(607-609)tcC>tcT p.S203S MKL1_ENST00000407029.1_Silent_p.S203S|MKL1_ENST00000402042.1_Intron|MKL1_ENST00000355630.3_Silent_p.S203S Q969V6 MKL1_HUMAN megakaryoblastic leukemia (translocation) 1 203 Mediates interaction with SCAI and ACTB (By similarity). positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent cytoplasm|nucleus actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 30 GTGTGGGGGTGGACTTGGCAG 0.572000 T RBM15 acute megakaryocytic leukemia 14 35 0 0 0.001855 0 0 CACNA1E 777 broad.mit.edu 37 1 181762858 181762858 + Missense_Mutation SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr1:181762858C>T ENST00000357570.5 + 45 6121 c.5809C>T c.(5809-5811)Cct>Tct p.P1937S CACNA1E_ENST00000367573.2_Missense_Mutation_p.P1986S|CACNA1E_ENST00000367570.1_Intron|CACNA1E_ENST00000367567.4_Intron|CACNA1E_ENST00000360108.3_Missense_Mutation_p.P1967S|CACNA1E_ENST00000358338.5_Intron|CACNA1E_ENST00000526775.1_Intron Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 1986 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 CATCTACCTTCCTTCGGACAC 0.507000 6 9 0 0 0.001984 0 0 STXBP5L 9515 broad.mit.edu 37 3 121100318 121100318 + Silent SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr3:121100318C>T ENST00000273666.6 + 23 2869 c.2598C>T c.(2596-2598)tcC>tcT p.S866S STXBP5L_ENST00000471454.1_Silent_p.S842S|STXBP5L_ENST00000497029.1_Silent_p.S840S|STXBP5L_ENST00000492541.1_Silent_p.S866S|STXBP5L_ENST00000472879.1_Silent_p.S842S NM_014980.2 NP_055795.1 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 866 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) TAATCATCTCCTTAAACCTAC 0.413000 21 89 0 0 0.014323 0 0 PGK2 5232 broad.mit.edu 37 6 49754580 49754580 + Silent SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr6:49754580G>A ENST00000304801.3 - 1 473 c.321C>T c.(319-321)gcC>gcT p.A107A NM_138733.4 NP_620061.2 P07205 PGK2_HUMAN phosphoglycerate kinase 2 107 glycolysis cytosol ATP binding|phosphoglycerate kinase activity autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 47 Lung NSC(77;0.0402) GGTTGGCACAGGCTTTCTCCA 0.507000 21 48 0 0 0.002780 0 0 HAO1 54363 broad.mit.edu 37 20 7895041 7895041 + Missense_Mutation SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr20:7895041C>T ENST00000378789.3 - 3 366 c.315G>A c.(313-315)atG>atA p.M105I NM_017545.2 NP_060015.1 Q9UJM8 HAOX1_HUMAN hydroxyacid oxidase (glycolate oxidase) 1 105 FMN hydroxy acid dehydrogenase. cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process peroxisomal matrix FMN binding|glycolate oxidase activity|glyoxylate oxidase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 AACTCAACATCATGCCCGTTC 0.517000 10 28 0 0 0.010729 0 0 OR4D5 219875 broad.mit.edu 37 11 123811257 123811257 + Silent SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr11:123811257C>T ENST00000307033.2 + 1 1008 c.934C>T c.(934-936)Ctg>Ttg p.L312L NM_001001965.1 NP_001001965.1 Q8NGN0 OR4D5_HUMAN olfactory receptor, family 4, subfamily D, member 5 312 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) TATTGGTCCCCTGGAGCACAG 0.498000 10 40 0 0 0.008291 0 0 SERHL 94009 broad.mit.edu 37 22 42905114 42905114 + RNA SNP C C G TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr22:42905114C>G ENST00000359906.2 + 0 695 NR_027786.1 serine hydrolase-like endometrium(1)|large_intestine(1) 2 TCCTGTTGATCAAGTGAGTCT 0.577000 9 52 0 0 0.004482 0 0 ACE 1636 broad.mit.edu 37 17 61555443 61555443 + Missense_Mutation SNP T T C TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr17:61555443T>C ENST00000290866.4 + 2 425 c.401T>C c.(400-402)cTg>cCg p.L134P ACE_ENST00000584529.1_3'UTR|ACE_ENST00000428043.1_Missense_Mutation_p.L134P|ACE_ENST00000538928.1_Missense_Mutation_p.L134P NM_000789.3 NP_000780.1 P12821 ACE_HUMAN angiotensin I converting enzyme 134 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) AACCTGCCCCTGGCTAAGCGG 0.677000 4 8 0 0 0.000602 0 0 PPM1G 5496 broad.mit.edu 37 2 27610020 27610020 + Silent SNP A A G TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr2:27610020A>G ENST00000344034.4 - 2 390 c.126T>C c.(124-126)gcT>gcC p.A42A PPM1G_ENST00000350803.4_Silent_p.A42A NM_177983.2 NP_817092.1 O15355 PPM1G_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1G 42 cell cycle arrest|protein dephosphorylation cytoplasm|nucleus|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 19 Acute lymphoblastic leukemia(172;0.155) TACAGTTGTGAGCATCCTAGG 0.438000 3 20 0 0 0.009096 0 0 UNC5D 137970 broad.mit.edu 37 8 35425736 35425736 + Missense_Mutation SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr8:35425736G>A ENST00000287272.2 + 3 463 c.443G>A c.(442-444)aGg>aAg p.R148K UNC5D_ENST00000404895.2_Missense_Mutation_p.R148K|UNC5D_ENST00000453357.2_Missense_Mutation_p.R143K|UNC5D_ENST00000416672.1_Missense_Mutation_p.R148K|UNC5D_ENST00000420357.1_Missense_Mutation_p.R148K Q6UXZ4 UNC5D_HUMAN unc-5 homolog D (C. elegans) 148 Ig-like. apoptosis|axon guidance integral to membrane receptor activity p.R143M(1) NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2) 112 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) TCCAAGAGCAGGAAGGCCTCT 0.507000 20 53 0 0 0.010504 0 0 OR8B8 26493 broad.mit.edu 37 11 124310859 124310859 + Silent SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr11:124310859C>T ENST00000328064.2 - 1 195 c.123G>A c.(121-123)ggG>ggA p.G41G NM_012378.1 NP_036510.1 Q15620 OR8B8_HUMAN olfactory receptor, family 8, subfamily B, member 8 41 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) AGCCCAGGTTCCCCACCACAG 0.488000 25 44 0 0 0.004656 0 0 FAM71B 153745 broad.mit.edu 37 5 156590262 156590262 + Silent SNP T T A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr5:156590262T>A ENST00000302938.4 - 2 1109 c.1014A>T c.(1012-1014)tcA>tcT p.S338S NM_130899.2 NP_570969.2 Q8TC56 FA71B_HUMAN family with sequence similarity 71, member B 338 nucleus NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TAATACCCTCTGAGGATATGT 0.572000 106 333 0 0 0.014410 0 0 NAV3 89795 broad.mit.edu 37 12 78401099 78401099 + Missense_Mutation SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr12:78401099C>T ENST00000397909.2 + 8 1954 c.1781C>T c.(1780-1782)tCt>tTt p.S594F NAV3_ENST00000266692.7_Missense_Mutation_p.S594F|NAV3_ENST00000536525.2_Missense_Mutation_p.S594F|NAV3_ENST00000228327.6_Missense_Mutation_p.S594F Q8IVL0 NAV3_HUMAN neuron navigator 3 594 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 GCTTCTCCTTCTGGTTCCTGT 0.522000 HNSCC(70;0.22) 30 77 0 0 0.008361 0 0 C15orf39 56905 broad.mit.edu 37 15 75500361 75500361 + Missense_Mutation SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr15:75500361C>T ENST00000360639.2 + 2 2292 c.1972C>T c.(1972-1974)Cgt>Tgt p.R658C C15orf39_ENST00000394987.4_Missense_Mutation_p.R658C|C15orf39_ENST00000567617.1_Missense_Mutation_p.R658C Q6ZRI6 CO039_HUMAN chromosome 15 open reading frame 39 658 autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 16 CAAGATCCTCCGTCCGGCACC 0.622000 17 45 0 0 0.006122 0 0 TBCE 6905 broad.mit.edu 37 1 235543451 235543451 + Silent SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr1:235543451C>T ENST00000543662.1 + 2 193 c.87C>T c.(85-87)gtC>gtT p.V29V TBCE_ENST00000406207.1_Silent_p.V29V|TBCE_ENST00000472011.1_3'UTR|TBCE_ENST00000366601.3_Silent_p.V29V Q15813 TBCE_HUMAN tubulin folding cofactor E 29 CAP-Gly. 'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway cytoplasm|microtubule|nucleus|plasma membrane chaperone binding NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 14 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238) OV - Ovarian serous cystadenocarcinoma(106;2.56e-05) CTGGTGTTGTCCCTCCCGTGG 0.438000 8 15 0 0 0.006214 0 0 RBP3 5949 broad.mit.edu 37 10 48389649 48389649 + Missense_Mutation SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr10:48389649C>T ENST00000224600.4 - 1 1342 c.1229G>A c.(1228-1230)gGg>gAg p.G410E NM_002900.2 NP_002891.1 P10745 RET3_HUMAN retinol binding protein 3, interstitial 410 4 X approximate tandem repeats. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Vitamin A(DB00162) TGGGGCCACCCCTGGTGAGTC 0.657000 10 18 0 0 0.010729 0 0 OR51Q1 390061 broad.mit.edu 37 11 5443983 5443983 + Missense_Mutation SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr11:5443983G>A ENST00000300778.4 + 1 643 c.553G>A c.(553-555)Gat>Aat p.D185N HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron NM_001004757.2 NP_001004757.1 Q8NH59 O51Q1_HUMAN olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene) 185 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 37 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCTCCACCAGGATATGATCCG 0.512000 46 108 0 0 0.014410 0 0 DLG4 1742 broad.mit.edu 37 17 7096426 7096426 + Silent SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr17:7096426C>T ENST00000399510.2 - 19 2685 c.1833G>A c.(1831-1833)cgG>cgA p.R611R DLG4_ENST00000302955.6_Silent_p.R565R|DLG4_ENST00000399506.2_Silent_p.R568R NM_001365.3 NP_001356.1 P78352 DLG4_HUMAN discs, large homolog 4 (Drosophila) 568 Guanylate kinase-like. axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome protein binding|protein C-terminus binding breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2) 18 CCCGCTTGGGCCGTGTCGTAT 0.532000 25 93 0 0 0.004656 0 0 ITGA5 3678 broad.mit.edu 37 12 54799034 54799034 + Missense_Mutation SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr12:54799034G>A ENST00000293379.4 - 12 1402 c.1141C>T c.(1141-1143)Ctt>Ttt p.L381F RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA NM_002205.2 NP_002196.2 P08648 ITA5_HUMAN integrin, alpha 5 (fibronectin receptor, alpha polypeptide) 381 angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 34 GTGAGGGTAAGGGTGGGCGTG 0.637000 13 44 0 0 0.002450 0 0 MUC16 94025 broad.mit.edu 37 19 9061148 9061148 + Silent SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr19:9061148G>A ENST00000397910.4 - 3 26501 c.26298C>T c.(26296-26298)tcC>tcT p.S8766S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 8768 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 TGGTTTCCGTGGAGATTTCTG 0.507000 20 53 0 0 0.003330 0 0 KCNJ1 3758 broad.mit.edu 37 11 128709329 128709329 + Silent SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr11:128709329C>T ENST00000392665.2 - 2 954 c.810G>A c.(808-810)caG>caA p.Q270Q KCNJ1_ENST00000392666.1_Silent_p.Q270Q|KCNJ1_ENST00000324036.3_Silent_p.Q270Q|KCNJ1_ENST00000392664.2_Silent_p.Q289Q|KCNJ1_ENST00000440599.2_Silent_p.Q270Q NM_153764.2 NP_722448.1 P48048 IRK1_HUMAN potassium inwardly-rectifying channel, subfamily J, member 1 289 excretion voltage-gated potassium channel complex ATP binding|inward rectifier potassium channel activity breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1) 23 all_hematologic(175;0.0641) all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425) OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942) Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124) ATTCAAAGTCCTGCTGGAGAA 0.483000 7 25 0 0 0.004482 0 0 OR6C70 390327 broad.mit.edu 37 12 55863458 55863458 + Silent SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr12:55863458G>A ENST00000327335.4 - 1 464 c.465C>T c.(463-465)ttC>ttT p.F155F RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA NM_001005499.1 NP_001005499.1 A6NIJ9 O6C70_HUMAN olfactory receptor, family 6, subfamily C, member 70 155 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 18 TCAGTGGAGTGAAAATGATCA 0.368000 11 29 0 0 0.010729 0 0 MMP17 4326 broad.mit.edu 37 12 132329987 132329987 + Silent SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr12:132329987C>T ENST00000360564.1 + 8 1299 c.1197C>T c.(1195-1197)ttC>ttT p.F399F MMP17_ENST00000535004.1_5'UTR|MMP17_ENST00000535291.1_Silent_p.F315F NM_016155.4 NP_057239.4 Q9ULZ9 MMP17_HUMAN matrix metallopeptidase 17 (membrane-inserted) 399 Hemopexin-like 2. 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) AGATCGTCTTCTTTAAAGGTG 0.672000 5 18 0 0 0.000602 0 0 FKBP8 23770 broad.mit.edu 37 19 18648543 18648543 + Silent SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr19:18648543C>T ENST00000597960.2 - 6 933 c.813G>A c.(811-813)ttG>ttA p.L271L FKBP8_ENST00000596558.1_Silent_p.L270L|FKBP8_ENST00000453489.2_Silent_p.L299L|FKBP8_ENST00000222308.3_Silent_p.L271L|FKBP8_ENST00000544835.2_Silent_p.L111L Q14318 FKBP8_HUMAN FK506 binding protein 8, 38kDa 270 apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding integral to endoplasmic reticulum membrane|mitochondrial membrane FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1) 15 ACTTCACCTTCAACTGCAGGA 0.642000 10 33 0 0 0.010729 0 0 DNAH5 1767 broad.mit.edu 37 5 13792187 13792187 + Silent SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr5:13792187G>A ENST00000265104.4 - 50 8468 c.8364C>T c.(8362-8364)ttC>ttT p.F2788F NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2788 AAA 3 (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) ACACATAATGGAATTTTGCAG 0.443000 Kartagener syndrome 11 22 0 0 0.013537 0 0 HPR 3250 broad.mit.edu 37 16 72110817 72110817 + Missense_Mutation SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr16:72110817G>A ENST00000540303.2 + 5 916 c.884G>A c.(883-885)gGc>gAc p.G295D HPR_ENST00000228226.8_Missense_Mutation_p.G332D|HPR_ENST00000356967.5_Missense_Mutation_p.G295D|HPR_ENST00000561690.1_Intron NM_020995.3 NP_066275.3 P00739 HPTR_HUMAN haptoglobin-related protein 295 Peptidase S1. proteolysis spherical high-density lipoprotein particle hemoglobin binding|serine-type endopeptidase activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2) 20 Ovarian(137;0.125) ACCTGCTATGGCGATGCGGGC 0.557000 19 38 0 0 0.008871 0 0 SUN2 25777 broad.mit.edu 37 22 39135782 39135782 + Missense_Mutation SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr22:39135782G>A ENST00000405510.1 - 14 1881 c.1523C>T c.(1522-1524)gCg>gTg p.A508V SUN2_ENST00000405018.1_Missense_Mutation_p.A529V|RP3-508I15.14_ENST00000416406.1_RNA|SUN2_ENST00000411587.2_Missense_Mutation_p.A497V|SUN2_ENST00000406622.1_Missense_Mutation_p.A508V|SUN2_ENST00000216064.4_Missense_Mutation_p.A508V NM_001199580.1 NP_001186509.1 Q9UH99 SUN2_HUMAN Sad1 and UNC84 domain containing 2 508 centrosome localization|cytoskeletal anchoring at nuclear membrane|mitotic spindle organization|nuclear envelope organization|nuclear matrix anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration endosome membrane|integral to membrane|nuclear inner membrane|SUN-KASH complex lamin binding|microtubule binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1) 15 CAGGGAGGCCGCGGCTTCCCT 0.612000 19 53 0 0 0.010504 0 0 ENTPD1 953 broad.mit.edu 37 10 97604314 97604314 + Silent SNP T T C TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr10:97604314T>C ENST00000371203.5 + 4 668 c.81T>C c.(79-81)ggT>ggC p.G27G ENTPD1_ENST00000371207.3_Silent_p.G177G|ENTPD1_ENST00000490659.1_3'UTR|ENTPD1_ENST00000371205.4_Silent_p.G165G|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000539125.1_Silent_p.G27G|ENTPD1_ENST00000453258.2_Silent_p.G172G|RP11-429G19.3_ENST00000433113.1_RNA|ENTPD1_ENST00000543964.1_Silent_p.G57G NM_001164179.1|NM_001164182.1|NM_001776.5 NP_001157651.1|NP_001157654.1|NP_001767.3 P49961 ENTP1_HUMAN ectonucleoside triphosphate diphosphohydrolase 1 165 cell adhesion integral to plasma membrane ATP binding cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1) 16 Colorectal(252;0.0821) Epithelial(162;1.31e-07)|all cancers(201;5.33e-06) ACTTCCAGGGTGCCAGGATCA 0.498000 35 79 0 0 0.004878 0 0 KRTAP5-9 3846 broad.mit.edu 37 11 71260045 71260045 + Silent SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr11:71260045C>T ENST00000528743.2 + 1 580 c.342C>T c.(340-342)ccC>ccT p.P114P NM_005553.3 NP_005544.4 P26371 KRA59_HUMAN keratin associated protein 5-9 114 8 X 4 AA repeats of C-C-X-P. epidermis development keratin filament kidney(1)|large_intestine(1)|lung(6)|prostate(3) 11 GCTGTAAGCCCTGTTGCTCCT 0.617000 27 84 0 0 0.004656 0 0 PCDHA9 9752 broad.mit.edu 37 5 140228284 140228284 + Silent SNP C C T rs71588635 TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr5:140228284C>T ENST00000378122.3 + 1 928 c.204C>T c.(202-204)tcC>tcT p.S68S PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Silent_p.S68S|PCDHA5_ENST00000529859.1_Intron NM_014005.3 NP_054724.1 breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 59 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGTTGGATTCCAAAGGCCGCG 0.637000 26 89 0 0 0.004656 0 0 KRT8 3856 broad.mit.edu 37 12 53291219 53291219 + Missense_Mutation SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr12:53291219G>A ENST00000552551.1 - 9 1877 c.1445C>T c.(1444-1446)cCc>cTc p.P482L KRT8_ENST00000552150.1_Missense_Mutation_p.P510L|KRT8_ENST00000546897.1_Missense_Mutation_p.P482L|KRT8_ENST00000293308.6_Missense_Mutation_p.P482L P05787 K2C8_HUMAN keratin 8 482 Tail. cytoskeleton organization|interspecies interaction between organisms cytoplasm|keratin filament|nuclear matrix|nucleoplasm protein binding|structural molecule activity endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1) 13 BRCA - Breast invasive adenocarcinoma(357;0.108) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TGTTCACTTGGGCAGGACGTC 0.637000 15 49 0 0 0.004990 0 0 OR1D2 4991 broad.mit.edu 37 17 2996197 2996197 + Silent SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr17:2996197G>A ENST00000331459.1 - 1 93 c.94C>T c.(94-96)Ctg>Ttg p.L32L NM_002548.2 NP_002539.2 P34982 OR1D2_HUMAN olfactory receptor, family 1, subfamily D, member 2 32 cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity kidney(2)|large_intestine(2)|lung(10)|ovary(1) 15 TACATGGACAGGAACATCCAA 0.552000 29 54 0 0 0.007291 0 0 OR4C3 256144 broad.mit.edu 37 11 48346753 48346753 + Silent SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr11:48346753C>T ENST00000319856.4 + 1 282 c.261C>T c.(259-261)ttC>ttT p.F87F NM_001004702.1 NP_001004702.1 Q8NH37 OR4C3_HUMAN olfactory receptor, family 4, subfamily C, member 3 60 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 32 TGTATTTTTTCCTGGCCAACC 0.453000 6 69 0 0 0.001168 0 0 RBFOX1 54715 broad.mit.edu 37 16 7714947 7714947 + Missense_Mutation SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr16:7714947G>A ENST00000340209.4 + 10 1219 c.922G>A c.(922-924)Gga>Aga p.G308R RBFOX1_ENST00000547372.1_Missense_Mutation_p.G346R|RBFOX1_ENST00000355637.4_Intron|RBFOX1_ENST00000547338.1_Missense_Mutation_p.G303R|RBFOX1_ENST00000550418.1_Missense_Mutation_p.G303R|RBFOX1_ENST00000311745.5_Intron|RBFOX1_ENST00000422070.4_Missense_Mutation_p.G346R|RBFOX1_ENST00000436368.2_Intron|RBFOX1_ENST00000553186.1_Missense_Mutation_p.G276R|RBFOX1_ENST00000552089.1_Missense_Mutation_p.G320R|RBFOX1_ENST00000535565.2_Missense_Mutation_p.G260R Q9NWB1 RFOX1_HUMAN RNA binding protein, fox-1 homolog (C. elegans) 1 303 mRNA processing|RNA splicing|RNA transport nucleus|trans-Golgi network nucleotide binding|protein C-terminus binding|RNA binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2) 55 TTACCAGGATGGATTTTATGG 0.438000 27 94 0 0 0.009535 0 0 SLC22A25 387601 broad.mit.edu 37 11 62997014 62997014 + Silent SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr11:62997014C>T ENST00000306494.6 - 1 110 c.111G>A c.(109-111)ctG>ctA p.L37L SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000535888.1_Intron NM_199352.3 NP_955384.3 Q6T423 S22AP_HUMAN solute carrier family 22, member 25 37 transmembrane transport integral to membrane NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7) 34 CGAAGTTCTCCAGCTGAGTTT 0.473000 14 63 0 0 0.001855 0 0 HIST1H3C 8352 broad.mit.edu 37 6 26045867 26045867 + Missense_Mutation SNP C C A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr6:26045867C>A ENST00000540144.1 + 1 229 c.229C>A c.(229-231)Cag>Aag p.Q77K NM_003531.2 NP_003522.1 P68431 H31_HUMAN histone cluster 1, H3c 77 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1) 8 AGAAATCGCCCAGGACTTCAA 0.617000 9 38 0.000673444 0.00176757 0.008291 1 0 MAGEB18 286514 broad.mit.edu 37 X 26157834 26157834 + Missense_Mutation SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chrX:26157834G>A ENST00000325250.1 + 2 919 c.732G>A c.(730-732)atG>atA p.M244I NM_173699.3 NP_775970.1 Q96M61 MAGBI_HUMAN melanoma antigen family B, 18 244 MAGE. protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2) 33 GGAAGGTCATGACCAAAGATT 0.512000 4 12 0 0 0.000602 0 0 FCAR 2204 broad.mit.edu 37 19 55401052 55401052 + Missense_Mutation SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr19:55401052C>T ENST00000391723.3 + 4 577 c.577C>T c.(577-579)Ccg>Tcg p.P193S FCAR_ENST00000391724.3_Silent_p.I195I|FCAR_ENST00000355524.3_Silent_p.I229I|FCAR_ENST00000345937.4_Silent_p.I133I|FCAR_ENST00000391726.3_Silent_p.I121I|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000359272.4_Silent_p.I217I|FCAR_ENST00000353758.4_Silent_p.I120I|FCAR_ENST00000391725.3_Silent_p.I207I NM_133274.2 NP_579808.1 P24071 FCAR_HUMAN Fc fragment of IgA, receptor for 0 Ig-like C2-type 2. immune response extracellular region|integral to plasma membrane IgA binding|receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2) 24 GBM - Glioblastoma multiforme(193;0.0443) AGAACTTGATCCGCATGGCCG 0.532000 63 307 0 0 0.014410 0 0 CIT 11113 broad.mit.edu 37 12 120135790 120135790 + Missense_Mutation SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr12:120135790G>A ENST00000392521.2 - 45 5748 c.5693C>T c.(5692-5694)tCc>tTc p.S1898F CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Missense_Mutation_p.S1856F NM_001206999.1 NP_001193928.1 O14578 CTRO_HUMAN citron (rho-interacting, serine/threonine kinase 21) 1856 intracellular signal transduction ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 86 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) CCCTGCTGAGGAGCGTGCCTG 0.527000 41 109 0 0 0.013114 0 0 MIR518A1 574488 broad.mit.edu 37 19 54234338 54234338 + RNA SNP T T G TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr19:54234338T>G ENST00000385068.1 + 0 79 NR_030210.1 TGGATTACGGTTTGAGAAAAA 0.478000 13 54 0 0 0.013537 0 0 OR52E6 390078 broad.mit.edu 37 11 5862975 5862975 + Silent SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr11:5862975G>A ENST00000329322.5 - 1 152 c.153C>T c.(151-153)atC>atT p.I51I TRIM5_ENST00000380027.1_Intron|OR52E6_ENST00000379946.2_Silent_p.I55I NM_001005167.1 NP_001005167.1 Q96RD3 O52E6_HUMAN olfactory receptor, family 52, subfamily E, member 6 51 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GCTCAGTTTGGATCACAAAGA 0.478000 16 47 0 0 0.006122 0 0 ASL 435 broad.mit.edu 37 7 65547372 65547372 + Silent SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr7:65547372C>T ENST00000304874.9 + 4 327 c.225C>T c.(223-225)gcC>gcT p.A75A ASL_ENST00000380839.4_Silent_p.A75A|ASL_ENST00000395332.3_Silent_p.A75A|ASL_ENST00000395331.3_Silent_p.A75A NM_000048.3 NP_000039.2 P04424 ARLY_HUMAN argininosuccinate lyase 75 arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle cytosol argininosuccinate lyase activity breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1) 18 L-Arginine(DB00125) AGGAGTGGGCCCAGGGCACCT 0.617000 10 31 0 0 0.010729 0 0 ISL1 3670 broad.mit.edu 37 5 50685521 50685521 + Missense_Mutation SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr5:50685521G>A ENST00000230658.7 + 4 1105 c.520G>A c.(520-522)Gtc>Atc p.V174I ISL1_ENST00000511384.1_Missense_Mutation_p.V174I|ISL1_ENST00000505475.2_3'UTR NM_002202.2 NP_002193.2 P61371 ISL1_HUMAN ISL LIM homeobox 1 174 generation of precursor metabolites and energy|multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 31 Lung NSC(810;0.000845)|Breast(144;0.0411) GCGGCCCCACGTCCACAAGCA 0.721000 9 19 0 0 0.008291 0 0 THSD7B 80731 broad.mit.edu 37 2 138413086 138413086 + Missense_Mutation SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr2:138413086G>A ENST00000409968.1 + 22 4139 c.3961G>A c.(3961-3963)Gaa>Aaa p.E1321K THSD7B_ENST00000413152.2_Missense_Mutation_p.E1293K|THSD7B_ENST00000272643.3_Missense_Mutation_p.E1324K|THSD7B_ENST00000543459.1_Intron thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) AGACTGTGGGGAAGGAGTTCA 0.478000 5 11 0 0 0.001984 0 0 RPS6KA6 27330 broad.mit.edu 37 X 83419362 83419362 + Missense_Mutation SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chrX:83419362C>T ENST00000262752.2 - 2 122 c.115G>A c.(115-117)Gaa>Aaa p.E39K RPS6KA6_ENST00000543399.1_Missense_Mutation_p.E39K NM_014496.4 NP_055311.1 Q9UK32 KS6A6_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 6 39 axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 46 TCTCCCTCTTCCATTGGCTCA 0.299000 14 30 0 0 0.004007 0 0 DOPEY1 23033 broad.mit.edu 37 6 83838630 83838630 + Missense_Mutation SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr6:83838630C>T ENST00000349129.2 + 16 2004 c.1744C>T c.(1744-1746)Cct>Tct p.P582S DOPEY1_ENST00000369739.3_Missense_Mutation_p.P573S|DOPEY1_ENST00000237163.5_Missense_Mutation_p.P563S NM_015018.3 NP_055833.2 Q5JWR5 DOP1_HUMAN dopey family member 1 582 protein transport breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 67 all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203) BRCA - Breast invasive adenocarcinoma(397;0.053) TCATGAAAATCCTACTGAAGT 0.358000 13 29 0 0 0.001855 0 0 OR10H3 26532 broad.mit.edu 37 19 15852388 15852388 + Silent SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr19:15852388C>T ENST00000305892.1 + 1 186 c.186C>T c.(184-186)ctC>ctT p.L62L NM_013938.1 NP_039226.1 O60404 O10H3_HUMAN olfactory receptor, family 10, subfamily H, member 3 62 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 17 CCATGTACCTCTTCTTGTGTG 0.507000 45 184 0 0 0.014410 0 0 NDST4 64579 broad.mit.edu 37 4 115858653 115858653 + Missense_Mutation SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr4:115858653C>T ENST00000264363.2 - 5 1906 c.1228G>A c.(1228-1230)Gga>Aga p.G410R NM_022569.1 NP_072091.1 Q9H3R1 NDST4_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 410 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) ATTGGTATTCCATGTTCCTAA 0.433000 6 18 0 0 0.001168 0 0 BCL9 607 broad.mit.edu 37 1 147091450 147091450 + Missense_Mutation SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr1:147091450C>T ENST00000234739.3 + 8 2229 c.1489C>T c.(1489-1491)Ctc>Ttc p.L497F NM_004326.2 NP_004317.2 O00512 BCL9_HUMAN B-cell CLL/lymphoma 9 497 Pro-rich. Wnt receptor signaling pathway nucleus protein binding breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 7 all_hematologic(923;0.115) GCAGTGTTCCCTCCAGGACAT 0.587000 T """IGH@, IGL@""" B-ALL 23 85 0 0 0.003954 0 0 ASTN2 23245 broad.mit.edu 37 9 119903635 119903635 + Missense_Mutation SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr9:119903635C>T ENST00000313400.4 - 4 1238 c.1138G>A c.(1138-1140)Ggg>Agg p.G380R ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000373996.3_Missense_Mutation_p.G380R O75129 ASTN2_HUMAN astrotactin 2 380 integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 TTCCTCTTCCCTGCCGATGTG 0.577000 9 29 0 0 0.004482 0 0 FAT3 120114 broad.mit.edu 37 11 92087984 92087984 + Silent SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr11:92087984G>A ENST00000298047.6 + 1 2723 c.2706G>A c.(2704-2706)ttG>ttA p.L902L FAT3_ENST00000525166.1_Silent_p.L752L|FAT3_ENST00000409404.2_Silent_p.L902L|FAT3_ENST00000541502.1_Silent_p.L902L Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 902 Cadherin 8. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) ATTATTCTTTGAAAATAGAAG 0.438000 TCGA Ovarian(4;0.039) 114 326 0 0 0.014410 0 0 ZBTB7A 51341 broad.mit.edu 37 19 4048123 4048123 + Missense_Mutation SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr19:4048123G>A ENST00000322357.4 - 3 1660 c.1382C>T c.(1381-1383)aCg>aTg p.T461M ZBTB7A_ENST00000601588.1_Missense_Mutation_p.T461M NM_015898.2 NP_056982.1 O95365 ZBT7A_HUMAN zinc finger and BTB domain containing 7A 461 cell differentiation|multicellular organismal development|transcription, DNA-dependent nucleus DNA binding|histone acetyltransferase binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 14 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18) GCGCAGGCCCGTGTGCACGCG 0.647000 23 45 0 0 0.012319 0 0 LRRC18 474354 broad.mit.edu 37 10 50121815 50121815 + Missense_Mutation SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr10:50121815C>T ENST00000374160.3 - 1 462 c.386G>A c.(385-387)gGc>gAc p.G129D RP11-523O18.7_ENST00000430438.1_RNA|LRRC18_ENST00000298124.3_Missense_Mutation_p.G129D|WDFY4_ENST00000413659.2_Intron|WDFY4_ENST00000325239.5_Intron NM_001006939.3 NP_001006940.3 Q8N456 LRC18_HUMAN leucine rich repeat containing 18 129 cytoplasm NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 18 GTGGTTCAAGCCTAGGTTCAC 0.602000 7 10 0 0 0.001984 0 0 B3GNTL1 146712 broad.mit.edu 37 17 80915071 80915071 + Missense_Mutation SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr17:80915071G>A ENST00000576599.1 - 10 1333 c.583C>T c.(583-585)Cac>Tac p.H195Y B3GNTL1_ENST00000320865.3_Missense_Mutation_p.H306Y Q67FW5 B3GNL_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1 306 transferase activity, transferring glycosyl groups endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 8 Breast(20;0.000443)|all_neural(118;0.0779) all_cancers(8;0.0396)|all_epithelial(8;0.0556) BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868) GAGTCCTCGTGGCAATAGAAG 0.632000 51 68 0 0 0.014410 0 0 NOTCH4 4855 broad.mit.edu 37 6 32163695 32163695 + Missense_Mutation SNP C C G TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr6:32163695C>G ENST00000375023.3 - 30 5669 c.5531G>C c.(5530-5532)cGg>cCg p.R1844P NOTCH4_ENST00000443903.2_3'UTR NM_004557.3 NP_004548.3 Q99466 NOTC4_HUMAN notch 4 1844 cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 TGACACCGTCCGTGCGCGCGG 0.731000 25 77 0 0 0.003330 0 0 DNAH5 1767 broad.mit.edu 37 5 13766132 13766132 + Missense_Mutation SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr5:13766132C>T ENST00000265104.4 - 59 10158 c.10054G>A c.(10054-10056)Gaa>Aaa p.E3352K DNAH5_ENST00000504001.3_Intron NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3352 Stalk (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) TTTAAGGATTCCTGCCAGGAG 0.448000 Kartagener syndrome 27 70 0 0 0.005443 0 0 ZNF529 57711 broad.mit.edu 37 19 37037968 37037968 + Silent SNP T T G TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr19:37037968T>G ENST00000334116.7 - 6 1787 c.1177A>C c.(1177-1179)Aga>Cga p.R393R ZNF529_ENST00000591340.1_Silent_p.R498R NM_001145650.1 NP_001139122.1 Q6P280 ZN529_HUMAN zinc finger protein 529 465 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 Esophageal squamous(110;0.198) GTATGAATTCTCTGATGTTCT 0.398000 8 22 0 0 0.003080 0 0 DPH7 92715 broad.mit.edu 37 9 140458908 140458908 + Silent SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr9:140458908G>A ENST00000277540.2 - 8 1084 c.927C>T c.(925-927)atC>atT p.I309I DPH7_ENST00000479650.1_5'UTR NM_138778.2 NP_620133.1 diphthamide biosynthesis 7 GGCAGTTGAGGATCTTAAAGC 0.627000 6 22 0 0 0.001168 0 0 HP 3240 broad.mit.edu 37 16 72094728 72094728 + Missense_Mutation SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr16:72094728G>A ENST00000355906.5 + 7 1218 c.1160G>A c.(1159-1161)gGt>gAt p.G387D HP_ENST00000398131.2_Missense_Mutation_p.G328D|HP_ENST00000562526.1_3'UTR|HP_ENST00000570083.1_Missense_Mutation_p.G328D|HPR_ENST00000356967.5_Intron|HP_ENST00000565574.1_Missense_Mutation_p.G328D NM_005143.3 NP_005134.1 P00738 HPT_HUMAN haptoglobin 387 Peptidase S1. cellular iron ion homeostasis|defense response|negative regulation of hydrogen peroxide catabolic process|negative regulation of oxidoreductase activity|positive regulation of cell death|proteolysis|response to hydrogen peroxide extracellular region|haptoglobin-hemoglobin complex hemoglobin binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1) 7 Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114) BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529) GCTGAGTATGGTGTGTATGTG 0.527000 30 73 0 0 0.007291 0 0 COL4A3 1285 broad.mit.edu 37 2 228118856 228118856 + Missense_Mutation SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr2:228118856G>A ENST00000396578.3 + 14 956 c.794G>A c.(793-795)gGa>gAa p.G265E AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000606119.1_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000437673.1_RNA NM_000091.4 NP_000082.2 Q01955 CO4A3_HUMAN collagen, type IV, alpha 3 (Goodpasture antigen) 265 Triple-helical region. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) GGAGACAAGGGAGCAATGGGC 0.423000 17 61 0 0 0.010504 0 0 ADM2 79924 broad.mit.edu 37 22 50921076 50921076 + Missense_Mutation SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr22:50921076G>A ENST00000395738.2 + 2 483 c.191G>A c.(190-192)cGg>cAg p.R64Q ADM2_ENST00000395737.1_Missense_Mutation_p.R64Q|ADM2_ENST00000362068.2_5'UTR NM_001253845.1|NM_024866.5 NP_001240774.1|NP_079142.2 Q7Z4H4 ADM2_HUMAN adrenomedullin 2 64 positive regulation of angiogenesis extracellular region hormone activity breast(1)|kidney(1) 2 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) AAGCTTCACCGGGCCCTCCAG 0.706000 3 5 0 0 0.004672 0 0 PCDHGA3 56112 broad.mit.edu 37 5 140725195 140725195 + Missense_Mutation SNP T T G TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr5:140725195T>G ENST00000253812.6 + 1 1595 c.1595T>G c.(1594-1596)gTg>gGg p.V532G PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018916.3|NM_032011.1 NP_061739.2|NP_114400.1 breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAGCTACTGGTGACAGCCAGC 0.572000 17 98 0 0 0.007413 0 0 MYH8 4626 broad.mit.edu 37 17 10299903 10299903 + Missense_Mutation SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr17:10299903C>T ENST00000403437.2 - 32 4589 c.4495G>A c.(4495-4497)Gaa>Aaa p.E1499K CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 1499 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 CTTAGCGTTTCGAGTTGATCC 0.473000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 8 23 0 0 0.003080 0 0 REG1B 5968 broad.mit.edu 37 2 79312666 79312666 + Missense_Mutation SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr2:79312666G>A ENST00000305089.3 - 5 465 c.385C>T c.(385-387)Ccg>Tcg p.P129S NM_006507.3 NP_006498.1 P48304 REG1B_HUMAN regenerating islet-derived 1 beta 129 C-type lectin. cell proliferation extracellular region sugar binding central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 51 GCACTGCTCGGGGATCCAGTG 0.562000 14 55 0 0 0.004990 0 0 IGSF21 84966 broad.mit.edu 37 1 18703297 18703297 + Missense_Mutation SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr1:18703297G>A ENST00000251296.1 + 8 1488 c.1105G>A c.(1105-1107)Gaa>Aaa p.E369K IGSF21_ENST00000473951.1_3'UTR NM_032880.4 NP_116269.3 Q96ID5 IGS21_HUMAN immunoglobin superfamily, member 21 369 Ig-like 2. E -> G (in Ref. 1; BAC11542). extracellular region endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 40 Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157) CCAACAGAACGAAGTCTTCCC 0.657000 11 13 0 0 0.010729 0 0 TTN 7273 broad.mit.edu 37 2 179584174 179584174 + Silent SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr2:179584174C>T ENST00000589042.1 - 83 24167 c.23943G>A c.(23941-23943)cgG>cgA p.R7981R TTN_ENST00000591111.1_Silent_p.R7664R|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.R6737R NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 7664 Ig-like 62. 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) GAGGCACAATCCGATCTATGT 0.473000 17 59 0 0 0.006122 0 0 BRINP1 1620 broad.mit.edu 37 9 121929537 121929537 + Missense_Mutation SNP T T A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr9:121929537T>A ENST00000265922.3 - 8 2572 c.2111A>T c.(2110-2112)aAt>aTt p.N704I DBC1_ENST00000482797.1_Intron NM_014618.2 NP_055433.2 O60477 DBC1_HUMAN 704 cell cycle arrest|cell death cytoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 GGCCAGGCGATTAATTCGGTC 0.557000 11 61 0 0 0.010729 0 0 CADM3 57863 broad.mit.edu 37 1 159163260 159163260 + Missense_Mutation SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr1:159163260G>A ENST00000368125.4 + 4 587 c.430G>A c.(430-432)Gaa>Aaa p.E144K CADM3_ENST00000368124.4_Missense_Mutation_p.E178K NM_001127173.1 NP_001120645.1 Q8N126 CADM3_HUMAN cell adhesion molecule 3 144 Ig-like C2-type 1. adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion cell-cell junction|integral to membrane protein homodimerization activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 all_hematologic(112;0.0429) TTCATTACGGGAAAAAGACAC 0.537000 19 48 0 0 0.010504 0 0 GEM 2669 broad.mit.edu 37 8 95265294 95265294 + Silent SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr8:95265294C>T ENST00000297596.2 - 3 642 c.378G>A c.(376-378)acG>acA p.T126T GEM_ENST00000396194.2_Silent_p.T126T NM_005261.3 NP_005252.1 P55040 GEM_HUMAN GTP binding protein overexpressed in skeletal muscle 126 cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction internal side of plasma membrane calmodulin binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 22 Breast(36;4.65e-06) Myeloproliferative disorder(644;0.204) BRCA - Breast invasive adenocarcinoma(8;0.00691) GGAGTATAATCGTTGCACTTT 0.418000 32 49 0 0 0.004878 0 0 COL17A1 1308 broad.mit.edu 37 10 105800156 105800156 + Missense_Mutation SNP G G T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr10:105800156G>T ENST00000353479.5 - 40 3004 c.2714C>A c.(2713-2715)tCc>tAc p.S905Y COL17A1_ENST00000369733.3_Missense_Mutation_p.S905Y NM_000494.3 NP_000485.3 Q9UMD9 COHA1_HUMAN collagen, type XVII, alpha 1 905 Triple-helical region. S -> F (in Ref. 1; AAA35605 and 2; AAB51499). cell-matrix adhesion|epidermis development|hemidesmosome assembly basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane protein binding p.S905F(1) NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 62 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) TGGGGGGCCGGAGAGGAAGGT 0.532000 23 44 6.21321e-17 1.67022e-16 0.002780 1 0 DISC1 27185 broad.mit.edu 37 1 231830097 231830097 + Missense_Mutation SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr1:231830097C>T ENST00000439617.2 + 2 646 c.593C>T c.(592-594)aCc>aTc p.T198I DISC1_ENST00000317586.4_Missense_Mutation_p.T198I|DISC1_ENST00000366636.4_Missense_Mutation_p.T198I|TRAX_ENST00000602962.1_3'UTR|DISC1_ENST00000602281.1_Missense_Mutation_p.T198I|DISC1_ENST00000366633.3_Missense_Mutation_p.T198I|DISC1_ENST00000539444.1_Missense_Mutation_p.T198I|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000537876.1_Missense_Mutation_p.T198I|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000535983.1_Missense_Mutation_p.T198I NM_001164537.1|NM_001164540.1|NM_018662.2 NP_001158009.1|NP_001158012.1|NP_061132.2 Q9NRI5 DISC1_HUMAN disrupted in schizophrenia 1 198 Interaction with MAP1A. microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway centrosome|microtubule protein binding breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 15 all_cancers(173;0.0208)|Prostate(94;0.0975) GTCCCCCCAACCCCTCCTGGC 0.612000 13 38 0 0 0.003163 0 0 CPAMD8 27151 broad.mit.edu 37 19 17088240 17088240 + Missense_Mutation SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr19:17088240C>T ENST00000443236.1 - 15 1868 c.1837G>A c.(1837-1839)Gag>Aag p.E613K CPAMD8_ENST00000388925.4_Intron NM_015692.2 NP_056507.2 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain containing 8 566 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 TCTCCATTCTCCCTGACGTAG 0.592000 14 50 0 0 0.004990 0 0 PCDHA1 56147 broad.mit.edu 37 5 140166099 140166099 + Missense_Mutation SNP T T G TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr5:140166099T>G ENST00000504120.2 + 1 224 c.224T>G c.(223-225)cTg>cGg p.L75R PCDHA1_ENST00000378133.3_Missense_Mutation_p.L75R|PCDHA1_ENST00000394633.3_Missense_Mutation_p.L75R NM_018900.2 NP_061723.1 breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3) 70 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGGGACCTTCTGGAGGTAAAT 0.597000 20 61 0 0 0.012319 0 0 PPP6R2 9701 broad.mit.edu 37 22 50869685 50869685 + Silent SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr22:50869685C>T ENST00000359139.3 + 11 1603 c.1209C>T c.(1207-1209)gcC>gcT p.A403A PPP6R2_ENST00000395741.3_Silent_p.A404A|PPP6R2_ENST00000395744.3_Silent_p.A403A|PPP6R2_ENST00000216061.5_Silent_p.A403A NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4 NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2 O75170 PP6R2_HUMAN protein phosphatase 6, regulatory subunit 2 403 cytoplasm|intracellular membrane-bounded organelle protein binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1) 22 CCCACGCTGCCCGTGAGGAGA 0.577000 27 50 0 0 0.003954 0 0 NTN4 59277 broad.mit.edu 37 12 96131685 96131685 + Missense_Mutation SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr12:96131685G>A ENST00000343702.4 - 3 1271 c.823C>T c.(823-825)Cat>Tat p.H275Y NTN4_ENST00000552603.1_5'UTR|NTN4_ENST00000553059.1_Missense_Mutation_p.H275Y|NTN4_ENST00000344911.4_Missense_Mutation_p.H238Y|NTN4_ENST00000538383.1_Missense_Mutation_p.H238Y NM_021229.3 NP_067052.2 Q9HB63 NET4_HUMAN netrin 4 275 Laminin EGF-like 1. axon guidance basement membrane|plasma membrane NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 25 CTGAAGCCATGAACAGGTATG 0.453000 22 40 0 0 0.002780 0 0 NYNRIN 57523 broad.mit.edu 37 14 24884614 24884614 + Missense_Mutation SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr14:24884614C>T ENST00000382554.3 + 9 3977 c.3659C>T c.(3658-3660)tCc>tTc p.S1220F NM_025081.2 NP_079357.2 Q9P2P1 NYNRI_HUMAN NYN domain and retroviral integrase containing 1220 DNA integration integral to membrane DNA binding breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 56 AAGCATTTTTCCCGCTGCATT 0.637000 21 32 0 0 0.008871 0 0 BAGE2 85319 broad.mit.edu 37 21 11058353 11058353 + RNA SNP T T C rs79433933 by1000genomes TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr21:11058353T>C ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GAAATCTCTTTATAAAACCTT 0.343000 5 59 0 0 0.000602 0 0 PTEN 5728 broad.mit.edu 37 10 89711876 89711876 + Splice_Site SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr10:89711876G>A ENST00000371953.3 + 6 1851 c.492_splice c.e6-1 p.G165_splice NM_000314.4 NP_000305.3 P60484 PTEN_HUMAN phosphatase and tensin homolog 165 Phosphatase tensin-type. G -> E (in CD).|G -> R (in glioblastoma; severely reduced protein phosphatase activity; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|G -> V (in CD). activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.G165E(6)|p.R55fs*1(5)|p.?(4)|p.G165fs*9(3)|p.Y27fs*1(2)|p.G165_*404del(1)|p.K163_V166>NKGE(1)|p.G165V(1)|p.G165del(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) GTCCACCAGGGAGTAACTATT 0.368000 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 17 34 0 0 0.006122 0 0 PRX 57716 broad.mit.edu 37 19 40901099 40901099 + Missense_Mutation SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr19:40901099C>T ENST00000324001.7 - 7 3430 c.3160G>A c.(3160-3162)Ggg>Agg p.G1054R PRX_ENST00000291825.7_3'UTR NM_181882.2 NP_870998.2 Q9BXM0 PRAX_HUMAN periaxin 1054 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) TTCACCCTCCCATCCCAGCCC 0.612000 8 23 0 0 0.004482 0 0 ADAM29 11086 broad.mit.edu 37 4 175897457 175897457 + Missense_Mutation SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr4:175897457G>A ENST00000359240.3 + 5 1451 c.781G>A c.(781-783)Gat>Aat p.D261N ADAM29_ENST00000404450.4_Missense_Mutation_p.D261N|ADAM29_ENST00000514159.1_Missense_Mutation_p.D261N|ADAM29_ENST00000445694.1_Missense_Mutation_p.D261N NM_001278125.1|NM_014269.4 NP_001265054.1|NP_055084.3 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 261 Peptidase M12B. proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2) 93 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) TGTAGTAGATGATGTAAGGAA 0.388000 25 45 0 0 0.003954 0 0 MYH4 4622 broad.mit.edu 37 17 10362600 10362600 + Missense_Mutation SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr17:10362600C>T ENST00000255381.2 - 15 1665 c.1555G>A c.(1555-1557)Gac>Aac p.D519N CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 519 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(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 GCAGCCAGGTCCATCCCGAAG 0.468000 14 56 0 0 0.006122 0 0 LPO 4025 broad.mit.edu 37 17 56326423 56326423 + Missense_Mutation SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr17:56326423C>T ENST00000262290.4 + 5 644 c.328C>T c.(328-330)Ccc>Tcc p.P110S LPO_ENST00000543544.1_Missense_Mutation_p.P51S|LPO_ENST00000421678.2_Missense_Mutation_p.P27S|LPO_ENST00000582328.1_Missense_Mutation_p.P27S NM_006151.2 NP_006142.1 P22079 PERL_HUMAN lactoperoxidase 110 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 30 TGTTTCAGATCCCAGCCTGGA 0.577000 33 142 0 0 0.004289 0 0 DSCAM 1826 broad.mit.edu 37 21 42080489 42080489 + Silent SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr21:42080489G>A ENST00000400454.1 - 2 729 c.252C>T c.(250-252)ttC>ttT p.F84F NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 84 Ig-like C2-type 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) GAGGGAAGGGGAAAATTTGGA 0.498000 18 46 0 0 0.007413 0 0 AMHR2 269 broad.mit.edu 37 12 53818965 53818965 + Missense_Mutation SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr12:53818965G>A ENST00000257863.4 + 4 521 c.441G>A c.(439-441)atG>atA p.M147I AMHR2_ENST00000379791.3_Missense_Mutation_p.M147I|AMHR2_ENST00000550311.1_Missense_Mutation_p.M147I NM_001164690.1|NM_020547.2 NP_001158162.1|NP_065434.1 Q16671 AMHR2_HUMAN anti-Mullerian hormone receptor, type II 147 Mullerian duct regression ATP binding|hormone binding|metal ion binding breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2) 34 Adenosine triphosphate(DB00171) CCATCTGGATGGCACTGGTGC 0.587000 25 67 0 0 0.009535 0 0 MYO18B 84700 broad.mit.edu 37 22 26168458 26168458 + Missense_Mutation SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr22:26168458C>T ENST00000335473.7 + 7 2100 c.1850C>T c.(1849-1851)tCg>tTg p.S617L MYO18B_ENST00000407587.2_Missense_Mutation_p.S617L|MYO18B_ENST00000536101.1_Missense_Mutation_p.S617L NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 617 Myosin head-like. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 CGGGGGCCCTCGGTGCCTTCT 0.642000 5 26 0 0 0.000602 0 0 TMEM74 157753 broad.mit.edu 37 8 109797318 109797318 + Missense_Mutation SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr8:109797318G>A ENST00000297459.3 - 2 188 c.10C>T c.(10-12)Cac>Tac p.H4Y TMEM74_ENST00000518838.1_Intron NM_153015.1 NP_694560.1 Q96NL1 TMM74_HUMAN transmembrane protein 74 4 autophagy autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(57;3.08e-10) GCAAGGTAGTGGAGCTCCATG 0.527000 6 54 0 0 0.001984 0 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95515008 95515008 + RNA SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr2:95515008C>T ENST00000432432.2 - 0 649 NR_040113.1 CCACCATTTTCTCTTTCTTGC 0.303000 29 140 0 0 0.006230 0 0 HBE1 3046 broad.mit.edu 37 11 5291094 5291094 + Silent SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr11:5291094C>T ENST00000380237.1 - 3 371 c.27G>A c.(25-27)aaG>aaA p.K9K HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000292896.2_Silent_p.K9K P02100 HBE_HUMAN hemoglobin, epsilon 1 9 blood coagulation hemoglobin complex heme binding|oxygen binding|oxygen transporter activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1) 20 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGACGGCAGCCTTCTCCTCAG 0.532000 14 43 0 0 0.004007 0 0 IGKV1-17 28937 broad.mit.edu 37 2 89417258 89417258 + RNA SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr2:89417258G>A ENST00000490686.1 - 0 77 CCTTACCTGGGAACCAGAGCA 0.507000 7 169 0 0 0.004482 0 0 CLIC5 53405 broad.mit.edu 37 6 45870870 45870870 + Silent SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr6:45870870G>A ENST00000185206.6 - 6 1340 c.1188C>T c.(1186-1188)atC>atT p.I396I CLIC5_ENST00000339561.6_Silent_p.I237I NM_001114086.1 NP_001107558.1 Q9NZA1 CLIC5_HUMAN chloride intracellular channel 5 396 GST C-terminal. female pregnancy actin cytoskeleton|cell cortex|chloride channel complex|Golgi apparatus|insoluble fraction|microtubule organizing center protein binding|voltage-gated chloride channel activity endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 13 AGGCCAACTCGATCTCACTGT 0.567000 14 34 0 0 0.002450 0 0 PAX9 5083 broad.mit.edu 37 14 37145435 37145435 + Nonsense_Mutation SNP T T A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr14:37145435T>A ENST00000554201.1 + 3 1113 c.233T>A c.(232-234)tTg>tAg p.L78* PAX9_ENST00000557107.1_3'UTR|PAX9_ENST00000402703.2_Missense_Mutation_p.F268L|PAX9_ENST00000361487.6_Missense_Mutation_p.F268L P55771 PAX9_HUMAN paired box 9 0 Paired. multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(3) 12 Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218) Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189) GBM - Glioblastoma multiforme(112;0.0181) TGGGCAGTTTTGTGTCAGCAT 0.478000 23 34 0 0 0.004656 0 0 ZNF208 7757 broad.mit.edu 37 19 22156029 22156029 + Missense_Mutation SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr19:22156029G>A ENST00000397126.4 - 4 1955 c.1807C>T c.(1807-1809)Cat>Tat p.H603Y ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) TCACCAGTATGAATTCTCTTA 0.358000 9 23 0 0 0.006214 0 0 DISP1 84976 broad.mit.edu 37 1 223116276 223116276 + Silent SNP C C A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr1:223116276C>A ENST00000284476.6 + 2 275 c.111C>A c.(109-111)gcC>gcA p.A37A DISP1_ENST00000495684.1_Intron|DISP1_ENST00000360254.2_Silent_p.A37A NM_032890.3 NP_116279.2 Q96F81 DISP1_HUMAN dispatched homolog 1 (Drosophila) 37 diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5) 69 GBM - Glioblastoma multiforme(131;0.102) ACCATGCAGCCCAGCAGCTCA 0.498000 20 437 8.34094e-07 2.21245e-06 0.008871 1 0 LMTK2 22853 broad.mit.edu 37 7 97822385 97822385 + Missense_Mutation SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr7:97822385C>T ENST00000297293.5 + 11 2901 c.2608C>T c.(2608-2610)Ctc>Ttc p.L870F NM_014916.3 NP_055731.2 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 870 early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3) 59 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) GGTTGAAATTCTCTCAACTGA 0.547000 14 29 0 0 0.001855 0 0 POP1 10940 broad.mit.edu 37 8 99168559 99168559 + Missense_Mutation SNP C C T rs149744031 byFrequency TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr8:99168559C>T ENST00000401707.2 + 15 2420 c.2339C>T c.(2338-2340)tCg>tTg p.S780L POP1_ENST00000349693.3_Missense_Mutation_p.S780L NM_001145860.1|NM_001145861.1 NP_001139332.1|NP_001139333.1 Q99575 POP1_HUMAN processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae) 780 tRNA 5'-leader removal|tRNA catabolic process nucleolar ribonuclease P complex|ribonuclease MRP complex identical protein binding|ribonuclease MRP activity|ribonuclease P activity autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 Breast(36;1.78e-06) OV - Ovarian serous cystadenocarcinoma(57;0.145) TGTCAAGAATCGGCAGGGCCT 0.542000 41 88 0 0 0.013114 0 0 OR6F1 343169 broad.mit.edu 37 1 247875287 247875287 + Silent SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr1:247875287G>A ENST00000302084.2 - 1 818 c.771C>T c.(769-771)ttC>ttT p.F257F RP11-634B7.4_ENST00000449298.1_RNA NM_001005286.1 NP_001005286.1 Q8NGZ6 OR6F1_HUMAN olfactory receptor, family 6, subfamily F, member 1 257 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2) 47 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.0168) GGACGTGAAGGAAAACTGTGG 0.527000 17 42 0 0 0.004007 0 0 AMER1 139285 broad.mit.edu 37 X 63410334 63410334 + Missense_Mutation SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chrX:63410334G>A ENST00000330258.3 - 2 3105 c.2833C>T c.(2833-2835)Ccc>Tcc p.P945S AMER1_ENST00000374869.3_Intron|AMER1_ENST00000403336.1_Intron NM_152424.3 NP_689637.3 APC membrane recruitment protein 1 p.0?(67) AGGGAAAGGGGACTGTCTCGG 0.592000 11 31 0 0 0.013537 0 0 TUBB3 10381 broad.mit.edu 37 16 90001825 90001825 + Silent SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr16:90001825C>T ENST00000304984.5 + 3 3045 c.750C>T c.(748-750)tcC>tcT p.S250S TUBB3_ENST00000556922.1_Silent_p.S669S|TUBB3_ENST00000315491.7_Silent_p.S322S|TUBB3_ENST00000555576.1_Intron|TUBB3_ENST00000554444.1_Silent_p.S250S Q13509 TBB3_HUMAN tubulin, beta 3 class III 322 'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 17 all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0273) GCCGCATGTCCATGAAGGAGG 0.617000 21 49 0 0 0.010504 0 0 SVEP1 79987 broad.mit.edu 37 9 113169591 113169591 + Nonsense_Mutation SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr9:113169591C>T ENST00000401783.2 - 38 8625 c.8289G>A c.(8287-8289)tgG>tgA p.W2763* SVEP1_ENST00000297826.5_Nonsense_Mutation_p.W689*|SVEP1_ENST00000374469.1_Nonsense_Mutation_p.W2740* NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 2763 Sushi 22. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 AGGCACCACTCCACTTTCTAT 0.463000 21 66 0 0 0.008871 0 0 SCN1A 6323 broad.mit.edu 37 2 166848050 166848050 + Missense_Mutation SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr2:166848050C>T ENST00000423058.2 - 26 5752 c.5735G>A c.(5734-5736)cGa>cAa p.R1912Q SCN1A_ENST00000409050.1_Missense_Mutation_p.R1884Q|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.R1901Q|SCN1A_ENST00000303395.4_Missense_Mutation_p.R1912Q|AC010127.3_ENST00000597623.1_RNA NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 1912 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) CTCTTGTTTTCGTTTTAAAGT 0.413000 12 47 0 0 0.013537 0 0 OR2A2 442361 broad.mit.edu 37 7 143807498 143807498 + Silent SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr7:143807498C>T ENST00000408979.2 + 1 892 c.823C>T c.(823-825)Ctg>Ttg p.L275L NM_001005480.2 NP_001005480.2 Q6IF42 OR2A2_HUMAN olfactory receptor, family 2, subfamily A, member 2 275 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4) 22 Melanoma(164;0.0783) AATGCTGTCCCTGTTTCACAG 0.512000 34 65 0 0 0.011902 0 0 RAD51C 5889 broad.mit.edu 37 17 56787259 56787259 + Missense_Mutation SNP C C T rs28363311 TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr17:56787259C>T ENST00000337432.4 + 5 816 c.745C>T c.(745-747)Cgt>Tgt p.R249C RAD51C_ENST00000583539.1_Missense_Mutation_p.R249C NM_058216.1 NP_478123.1 O43502 RA51C_HUMAN RAD51 paralog C 249 R -> C (in dbSNP:rs28363311). blood coagulation|DNA repair mitochondrion|nucleoplasm|perinuclear region of cytoplasm ATP binding|DNA binding|DNA-dependent ATPase activity p.R249C(1) upper_aerodigestive_tract(1) 1 Medulloblastoma(34;0.127)|all_neural(34;0.237) TTTTCCATTTCGTCATGACCT 0.333000 Homologous recombination Hereditary Breast-Ovarian Cancer, non-BRCA1/2 48 74 0 0 0.014410 0 0 GABRE 2564 broad.mit.edu 37 X 151124224 151124224 + Missense_Mutation SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chrX:151124224G>A ENST00000370325.1 - 7 946 c.893C>T c.(892-894)tCc>tTc p.S298F GABRE_ENST00000370328.3_Missense_Mutation_p.S298F|GABRE_ENST00000483564.1_5'UTR P78334 GBRE_HUMAN gamma-aminobutyric acid (GABA) A receptor, epsilon 298 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) GATCCAAAAGGAAACCCAGGA 0.512000 24 45 0 0 0.002780 0 0 DISC1 27185 broad.mit.edu 37 1 231830098 231830098 + Silent SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr1:231830098C>T ENST00000439617.2 + 2 647 c.594C>T c.(592-594)acC>acT p.T198T DISC1_ENST00000317586.4_Silent_p.T198T|DISC1_ENST00000366636.4_Silent_p.T198T|TRAX_ENST00000602962.1_3'UTR|DISC1_ENST00000602281.1_Silent_p.T198T|DISC1_ENST00000366633.3_Silent_p.T198T|DISC1_ENST00000539444.1_Silent_p.T198T|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000537876.1_Silent_p.T198T|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000535983.1_Silent_p.T198T NM_001164537.1|NM_001164540.1|NM_018662.2 NP_001158009.1|NP_001158012.1|NP_061132.2 Q9NRI5 DISC1_HUMAN disrupted in schizophrenia 1 198 Interaction with MAP1A. microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway centrosome|microtubule protein binding breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 15 all_cancers(173;0.0208)|Prostate(94;0.0975) TCCCCCCAACCCCTCCTGGCT 0.612000 12 37 0 0 0.002450 0 0 IGHV3-43 28426 broad.mit.edu 37 14 106926642 106926642 + RNA SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr14:106926642C>T ENST00000434710.1 - 0 82 GTCCAAACTCCATGGTGCGTT 0.498000 22 48 0 0 0.003330 0 0 CYP3A43 64816 broad.mit.edu 37 7 99436782 99436782 + Missense_Mutation SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr7:99436782G>A ENST00000354829.2 + 3 308 c.205G>A c.(205-207)Gga>Aga p.G69R CYP3A43_ENST00000342499.4_5'UTR|CYP3A43_ENST00000417625.1_Silent_p.T109T|CYP3A43_ENST00000477658.1_Intron|CYP3A43_ENST00000415413.1_Intron|CYP3A43_ENST00000421837.2_Missense_Mutation_p.G69R|CYP3A43_ENST00000222382.5_Missense_Mutation_p.G69R|CYP3A43_ENST00000312017.5_Missense_Mutation_p.G69R|CYP3A43_ENST00000444905.1_Intron NM_022820.3|NM_057095.1 NP_073731.1|NP_476436.1 Q9HB55 CP343_HUMAN cytochrome P450, family 3, subfamily A, polypeptide 43 69 YGTHSHKLFKKLGIPGPTPLPFLGTILFYLRGLWNFDRECN EKYGEMWGLYEGQQPMLVIMDPD -> LGPIHINFLRSWEF LGQPLCLFWELFCSTLGVFGILTENVMKNTEKCGGCMRGNS PCWSSWIPT (in allele CYP3A43*2). xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1) 19 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) Cetirizine(DB00341)|Doxycycline(DB00254) TGAAAAATACGGAGAAATGTG 0.368000 14 54 0 0 0.002450 0 0 KRT1 3848 broad.mit.edu 37 12 53072496 53072496 + Nonsense_Mutation SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr12:53072496C>T ENST00000252244.3 - 2 694 c.636G>A c.(634-636)tgG>tgA p.W212* NM_006121.3 NP_006112.3 P04264 K2C1_HUMAN keratin 1 212 Coil 1A.|Rod. complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress plasma membrane protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3) 39 GCAGCAGCTCCCATTTTGTTT 0.468000 10 43 0 0 0.008291 0 0 SYMPK 8189 broad.mit.edu 37 19 46355638 46355638 + Silent SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr19:46355638G>A ENST00000245934.7 - 5 475 c.231C>T c.(229-231)atC>atT p.I77I NM_004819.2 NP_004810.2 Q92797 SYMPK_HUMAN symplekin 77 Interaction with HSF1. cell adhesion|mRNA processing cytoplasm|cytoskeleton|nucleoplasm|tight junction protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1) 45 all_neural(266;0.0299)|Ovarian(192;0.0308) OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593) GGAATGCGATGATCTCCTGCC 0.527000 28 60 0 0 0.005443 0 0 DNAH8 1769 broad.mit.edu 37 6 38825334 38825334 + Missense_Mutation SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr6:38825334C>T ENST00000359357.3 + 40 5377 c.5123C>T c.(5122-5124)tCa>tTa p.S1708L DNAH8_ENST00000449981.2_Missense_Mutation_p.S1925L|DNAH8_ENST00000441566.1_Missense_Mutation_p.S1708L dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 ACACACGATTCAGAAGAGGCT 0.348000 8 36 0 0 0.006214 0 0 ZKSCAN3 80317 broad.mit.edu 37 6 28333993 28333993 + Silent SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr6:28333993C>T ENST00000377255.3 + 7 1845 c.1548C>T c.(1546-1548)ggC>ggT p.G516G ZKSCAN3_ENST00000341464.5_Silent_p.G368G|ZKSCAN3_ENST00000252211.2_Silent_p.G516G NM_001242894.1 NP_001229823.1 Q9BRR0 ZKSC3_HUMAN zinc finger with KRAB and SCAN domains 3 516 positive regulation of transcription, DNA-dependent|viral reproduction nucleus chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1) 21 GTGGAAAAGGCTTCACCCGAA 0.433000 16 39 0 0 0.003163 0 0 ARSH 347527 broad.mit.edu 37 X 2933366 2933366 + Silent SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chrX:2933366C>T ENST00000381130.2 + 4 696 c.696C>T c.(694-696)atC>atT p.I232I NM_001011719.1 NP_001011719.1 Q5FYA8 ARSH_HUMAN arylsulfatase family, member H 232 integral to membrane arylsulfatase activity|metal ion binding breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1) 34 all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186) ATGAAATTATCCAGCAGCCAA 0.428000 6 18 0 0 0.001984 0 0 SSFA2 6744 broad.mit.edu 37 2 182780777 182780777 + Missense_Mutation SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr2:182780777C>T ENST00000431877.2 + 11 2589 c.2410C>T c.(2410-2412)Cca>Tca p.P804S SSFA2_ENST00000409136.1_Missense_Mutation_p.P313S|SSFA2_ENST00000409001.1_Missense_Mutation_p.P804S|SSFA2_ENST00000320370.7_Missense_Mutation_p.P804S|SSFA2_ENST00000428267.2_Missense_Mutation_p.P651S NM_001130445.1 NP_001123917.1 P28290 SSFA2_HUMAN sperm specific antigen 2 804 cytoplasm|plasma membrane actin binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 38 OV - Ovarian serous cystadenocarcinoma(117;0.0856) TTTCATCTCTCCATCATCTGT 0.502000 7 20 0 0 0.004482 0 0 ROCK1 6093 broad.mit.edu 37 18 18586524 18586524 + Nonsense_Mutation SNP G G T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr18:18586524G>T ENST00000399799.1 - 16 2613 c.1673C>A c.(1672-1674)tCg>tAg p.S558* NM_005406.2 NP_005397.1 Q13464 ROCK1_HUMAN Rho-associated, coiled-coil containing protein kinase 1 558 Interaction with FHOD1. actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction centriole|cytosol|Golgi membrane ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity p.S558L(1) NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2) 16 Melanoma(1;0.165) AGCTGTGTCCGATTCTGTCCT 0.358000 19 55 3.32936e-07 8.85468e-07 0.006122 1 0 TAOK3 51347 broad.mit.edu 37 12 118588822 118588822 + Missense_Mutation SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr12:118588822G>A ENST00000392533.3 - 21 3167 c.2677C>T c.(2677-2679)Cct>Tct p.P893S TAOK3_ENST00000419821.2_Missense_Mutation_p.P893S|TAOK3_ENST00000543709.1_Intron|TAOK3_ENST00000536979.1_Missense_Mutation_p.P88S|TAOK3_ENST00000537952.1_Missense_Mutation_p.P433S NM_016281.3 NP_057365.3 Q9H2K8 TAOK3_HUMAN TAO kinase 3 893 MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation mitochondrion|plasma membrane ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity central_nervous_system(1)|lung(5)|skin(1) 7 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TCCTCCTTAGGAAAATCTAAT 0.338000 18 57 0 0 0.010504 0 0 NLRP13 126204 broad.mit.edu 37 19 56443602 56443602 + Nonsense_Mutation SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr19:56443602G>A ENST00000588751.1 - 1 100 c.76C>T c.(76-78)Cag>Tag p.Q26* NLRP13_ENST00000342929.3_Nonsense_Mutation_p.Q26* Q86W25 NAL13_HUMAN NLR family, pyrin domain containing 13 26 DAPIN. ATP binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) AGCTGATACTGATCCAGGGCC 0.552000 16 52 0 0 0.007413 0 0 CLLU1OS 574016 broad.mit.edu 37 12 92814813 92814813 + Silent SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr12:92814813C>T ENST00000378487.2 - 3 280 c.279G>A c.(277-279)ggG>ggA p.G93G CLLU1OS_ENST00000538965.1_Silent_p.G93G NM_001025232.1 NP_001020403.1 Q5K130 CLU1O_HUMAN chronic lymphocytic leukemia up-regulated 1 opposite strand 93 large_intestine(1)|lung(7) 8 CTTCCTTCTTCCCATCATCAT 0.428000 48 171 0 0 0.014410 0 0 RALGDS 5900 broad.mit.edu 37 9 135985749 135985749 + Missense_Mutation SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr9:135985749G>A ENST00000393160.3 - 3 610 c.257C>T c.(256-258)aCc>aTc p.T86I RALGDS_ENST00000393157.3_Missense_Mutation_p.T140I|RALGDS_ENST00000372047.3_Missense_Mutation_p.T141I|RALGDS_ENST00000372050.3_Missense_Mutation_p.T141I|RALGDS_ENST00000542690.1_Missense_Mutation_p.T212I|RALGDS_ENST00000372062.3_Missense_Mutation_p.T124I NM_001042368.1 NP_001035827.1 Q12967 GNDS_HUMAN ral guanine nucleotide dissociation stimulator 141 nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol Ral guanyl-nucleotide exchange factor activity endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2) 10 OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05) CAGGAAGATGGTGACGTAGGA 0.587000 T CIITA """PMBL, Hodgkin Lymphona, """ 13 28 0 0 0.003163 0 0 KCNC4 3749 broad.mit.edu 37 1 110765869 110765869 + Missense_Mutation SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr1:110765869C>T ENST00000369787.3 + 2 989 c.962C>T c.(961-963)gCc>gTc p.A321V KCNC4_ENST00000438661.2_Missense_Mutation_p.A321V|KCNC4_ENST00000413138.3_Missense_Mutation_p.A321V|KCNC4_ENST00000412512.2_Intron NM_004978.4 NP_004969.2 Q03721 KCNC4_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 4 321 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) GACTTTGTGGCCATCCTGCCC 0.627000 12 33 0 0 0.010729 0 0 LRP1B 53353 broad.mit.edu 37 2 141739753 141739753 + Missense_Mutation SNP G G T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr2:141739753G>T ENST00000389484.3 - 18 3834 c.2863C>A c.(2863-2865)Cag>Aag p.Q955K NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 955 LDL-receptor class A 5. 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) TCATCTGTCTGGTCACCACAG 0.468000 TSP Lung(27;0.18) 8 42 0.000157383 0.000414167 0.003080 1 0 VWA3B 200403 broad.mit.edu 37 2 98810890 98810890 + Missense_Mutation SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr2:98810890G>A ENST00000477737.1 + 12 1876 c.1672G>A c.(1672-1674)Gaa>Aaa p.E558K VWA3B_ENST00000435344.1_Missense_Mutation_p.E558K|VWA3B_ENST00000451075.2_Missense_Mutation_p.E408K NM_144992.4 NP_659429.4 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 558 VWFA. NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 TGCTTGGCGGGAACAACTTGC 0.383000 46 129 0 0 0.014410 0 0 IGKV1D-17 28900 broad.mit.edu 37 2 90121708 90121708 + RNA SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr2:90121708C>T ENST00000483379.1 + 0 232 TGCTCTGGTTCCCAGGTAAGG 0.498000 18 75 0 0 0.014323 0 0 LOC101927060 101927060 broad.mit.edu 37 17 45127842 45127842 + RNA SNP T T C TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr17:45127842T>C ENST00000575173.1 - 0 418 TCCCCAACAATGTGAGAAGGC 0.527000 39 207 0 0 0.006230 0 0 PAPPA2 60676 broad.mit.edu 37 1 176640113 176640113 + Missense_Mutation SNP A A G TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr1:176640113A>G ENST00000367662.3 + 4 3163 c.1999A>G c.(1999-2001)Atg>Gtg p.M667V PAPPA2_ENST00000367661.3_Missense_Mutation_p.M667V NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 667 Metalloprotease. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 TAGGGCATACATGAGTGTGAA 0.483000 44 140 0 0 0.014410 0 0 COL13A1 1305 broad.mit.edu 37 10 71665557 71665557 + Silent SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr10:71665557C>T ENST00000356340.3 + 16 1466 c.930C>T c.(928-930)atC>atT p.I310I COL13A1_ENST00000520133.1_Silent_p.I259I|COL13A1_ENST00000398978.3_Silent_p.I310I|COL13A1_ENST00000398968.3_Silent_p.I291I|COL13A1_ENST00000517713.1_Silent_p.I288I|COL13A1_ENST00000398969.3_Silent_p.I253I|COL13A1_ENST00000398973.3_Silent_p.I310I|COL13A1_ENST00000522165.1_Silent_p.I291I|COL13A1_ENST00000398964.3_Silent_p.I281I|COL13A1_ENST00000520267.1_Silent_p.I253I|COL13A1_ENST00000357811.3_Silent_p.I288I|COL13A1_ENST00000398974.3_Silent_p.I298I|COL13A1_ENST00000398966.3_Silent_p.I288I|COL13A1_ENST00000398971.3_Silent_p.I310I|COL13A1_ENST00000354547.3_Silent_p.I288I|COL13A1_ENST00000398972.3_Silent_p.I310I Q5TAT6 CODA1_HUMAN collagen, type XIII, alpha 1 310 Triple-helical region 2 (COL2). cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure collagen type XIII|integral to membrane extracellular matrix structural constituent|heparin binding|protein binding endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 28 Atorvastatin(DB01076)|Simvastatin(DB00641) ACCCAGGGATCCAGGGCTACC 0.552000 4 9 0 0 0.000602 0 0 FRG1B 284802 broad.mit.edu 37 20 29628251 29628251 + Missense_Mutation SNP A A G TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr20:29628251A>G ENST00000278882.3 + 6 633 c.253A>G c.(253-255)Aat>Gat p.N85D FRG1B_ENST00000358464.4_Missense_Mutation_p.N85D|FRG1B_ENST00000439954.2_Missense_Mutation_p.N90D p.N85D(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTTGGCCTCAAATAGCTGCTT 0.358000 6 57 0 0 0.004482 0 0 CCDC144A 9720 broad.mit.edu 37 17 16664987 16664987 + Silent SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr17:16664987G>A ENST00000443444.2 + 13 3761 c.3621G>A c.(3619-3621)agG>agA p.R1207R CCDC144A_ENST00000399273.1_Silent_p.R1207R|CCDC144A_ENST00000360524.8_Silent_p.R1207R|CCDC144A_ENST00000456009.1_Silent_p.R973R|RP11-219A15.1_ENST00000448331.3_Silent_p.R1207R A2RUR9 C144A_HUMAN coiled-coil domain containing 144A 1207 AAAGAGCAAGGAAGGAGATAG 0.328000 7 47 0 0 0.004482 0 0 RAB11FIP5 26056 broad.mit.edu 37 2 73316099 73316099 + Missense_Mutation SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr2:73316099G>A ENST00000258098.6 - 2 1016 c.776C>T c.(775-777)tCc>tTc p.S259F RAB11FIP5_ENST00000493523.2_5'UTR NM_015470.2 NP_056285.1 Q9BXF6 RFIP5_HUMAN RAB11 family interacting protein 5 (class I) 259 protein transport mitochondrial outer membrane|recycling endosome membrane gamma-tubulin binding biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 23 GCTGGCTGAGGACAGGGTGCT 0.637000 11 32 0 0 0.013537 0 0 WDR59 79726 broad.mit.edu 37 16 74927577 74927577 + Splice_Site SNP A A C TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr16:74927577A>C ENST00000262144.6 - 19 2130 c.2000_splice c.e19+1 p.I667_splice NM_030581.3 NP_085058.3 Q6PJI9 WDR59_HUMAN WD repeat domain 59 667 breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1) 27 TTGTACTTACATGTACAGCTC 0.423000 9 20 0 0 0.008291 0 0 TBL2 26608 broad.mit.edu 37 7 72985206 72985206 + Silent SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr7:72985206G>A ENST00000305632.5 - 7 1216 c.975C>T c.(973-975)cgC>cgT p.R325R TBL2_ENST00000459913.1_5'UTR|TBL2_ENST00000432538.1_Silent_p.R289R NM_012453.2 NP_036585.1 Q9Y4P3 TBL2_HUMAN transducin (beta)-like 2 325 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 19 Lung NSC(55;0.0659)|all_lung(88;0.152) CCTCTTCAAAGCGGCCTGTCT 0.577000 38 87 0 0 0.007835 0 0 MAP3K3 4215 broad.mit.edu 37 17 61730009 61730009 + Missense_Mutation SNP A A G TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr17:61730009A>G ENST00000361357.3 + 5 671 c.353A>G c.(352-354)aAc>aGc p.N118S MAP3K3_ENST00000361733.3_Missense_Mutation_p.N87S|MAP3K3_ENST00000577395.1_Missense_Mutation_p.N87S|MAP3K3_ENST00000584573.1_Missense_Mutation_p.N118S|MAP3K3_ENST00000579585.1_Missense_Mutation_p.N118S NM_203351.1 NP_976226.1 Q99759 M3K3_HUMAN mitogen-activated protein kinase kinase kinase 3 87 OPR. MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation cytosol ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 28 CATTACATGAACAATGAGGTG 0.443000 4 16 0 0 0.009096 0 0 ANKS1A 23294 broad.mit.edu 37 6 34952961 34952961 + Missense_Mutation SNP C C T rs144301550 by1000genomes TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr6:34952961C>T ENST00000360359.3 + 8 1253 c.1115C>T c.(1114-1116)tCg>tTg p.S372L ANKS1A_ENST00000535627.1_Intron NM_015245.2 NP_056060.2 Q92625 ANS1A_HUMAN ankyrin repeat and sterile alpha motif domain containing 1A 372 cytoplasm protein binding cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 TCCTGCCATTCGTTGGACAGC 0.512000 12 34 0 0 0.001855 0 0 MYH2 4620 broad.mit.edu 37 17 10440988 10440988 + Silent SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr17:10440988G>A ENST00000245503.5 - 15 1965 c.1581C>T c.(1579-1581)atC>atT p.I527I CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Silent_p.I527I|MYH2_ENST00000532183.1_Silent_p.I527I|CTC-297N7.7_ENST00000587182.1_RNA NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 527 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 CAACCTTCTCGATGAGCTCGA 0.428000 21 74 0 0 0.005443 0 0 TAF2 6873 broad.mit.edu 37 8 120774830 120774830 + Missense_Mutation SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr8:120774830G>A ENST00000378164.2 - 19 2681 c.2383C>T c.(2383-2385)Cgt>Tgt p.R795C TAF2_ENST00000519355.1_5'UTR NM_003184.3 NP_003175.1 Q6P1X5 TAF2_HUMAN TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa 795 G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor TFIID complex|transcription factor TFTC complex metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 49 Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) ATTTCTGCACGATAATAGTTA 0.318000 17 19 0 0 0.007413 0 0 CCDC63 160762 broad.mit.edu 37 12 111319097 111319097 + Missense_Mutation SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr12:111319097G>A ENST00000308208.5 + 7 1092 c.850G>A c.(850-852)Gaa>Aaa p.E284K CCDC63_ENST00000552694.1_Missense_Mutation_p.E205K|CCDC63_ENST00000545036.1_Missense_Mutation_p.E244K NM_152591.1 NP_689804.1 Q8NA47 CCD63_HUMAN coiled-coil domain containing 63 284 p.E284K(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1) 39 CAAAAGGGAGGAAGGTACACC 0.502000 3 15 0 0 0.004672 0 0 MTUS1 57509 broad.mit.edu 37 8 17581343 17581343 + Splice_Site SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr8:17581343C>T ENST00000262102.6 - 4 2512 c.e4-1 MTUS1_ENST00000381869.3_Intron|MTUS1_ENST00000519263.1_Intron NM_001001924.2 NP_001001924.1 Q9ULD2 MTUS1_HUMAN microtubule associated tumor suppressor 1 Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1) 36 Colorectal(111;0.0778) GTAGGCTTTCCTTGGGGTTTA 0.423000 20 54 0 0 0.008871 0 0 ACE 1636 broad.mit.edu 37 17 61571304 61571304 + Missense_Mutation SNP T T C TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr17:61571304T>C ENST00000577647.1 + 10 1481 c.1436T>C c.(1435-1437)aTg>aCg p.M479T ACE_ENST00000490216.2_Missense_Mutation_p.M479T|ACE_ENST00000428043.1_Missense_Mutation_p.M1053T|ACE_ENST00000421982.2_Missense_Mutation_p.M299T|ACE_ENST00000290863.6_Missense_Mutation_p.M479T|ACE_ENST00000413513.3_Missense_Mutation_p.M479T|ACE_ENST00000290866.4_Missense_Mutation_p.M1053T P12821 ACE_HUMAN angiotensin I converting enzyme 1053 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) AACTTTCTGATGAAGATGGCC 0.552000 16 46 0 0 0.010504 0 0 DNAH9 1770 broad.mit.edu 37 17 11556228 11556228 + Missense_Mutation SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr17:11556228C>T ENST00000262442.3 + 14 2572 c.2504C>T c.(2503-2505)tCc>tTc p.S835F DNAH9_ENST00000454412.2_Missense_Mutation_p.S835F NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 835 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) AAAAGGGAATCCCTTCTTTCT 0.378000 8 33 0 0 0.006214 0 0 AUTS2 26053 broad.mit.edu 37 7 70229864 70229864 + Silent SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr7:70229864C>T ENST00000342771.4 + 8 1662 c.1341C>T c.(1339-1341)acC>acT p.T447T AUTS2_ENST00000406775.2_Silent_p.T447T NM_015570.2 NP_056385.1 Q8WXX7 AUTS2_HUMAN autism susceptibility candidate 2 447 breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 50 all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093) LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186) tcacacccaccctccagcccc 0.652000 9 11 0 0 0.004482 0 0 PLA2G4A 5321 broad.mit.edu 37 1 186901934 186901934 + Nonsense_Mutation SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr1:186901934C>T ENST00000367466.3 + 8 750 c.598C>T c.(598-600)Cga>Tga p.R200* PLA2G4A_ENST00000466600.1_Intron|PLA2G4A_ENST00000442353.2_Nonsense_Mutation_p.R140* NM_024420.2 NP_077734.1 P47712 PA24A_HUMAN phospholipase A2, group IVA (cytosolic, calcium-dependent) 200 PLA2c. phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation cytosol|endoplasmic reticulum membrane calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1) 53 Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103) TGGGGGTTTCCGAGCCATGGT 0.458000 31 100 0 0 0.012213 0 0 STXBP5L 9515 broad.mit.edu 37 3 120957823 120957823 + Missense_Mutation SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr3:120957823C>T ENST00000273666.6 + 13 1461 c.1190C>T c.(1189-1191)cCa>cTa p.P397L STXBP5L_ENST00000471454.1_Missense_Mutation_p.P397L|STXBP5L_ENST00000497029.1_Missense_Mutation_p.P397L|STXBP5L_ENST00000492541.1_Missense_Mutation_p.P397L|STXBP5L_ENST00000472879.1_Missense_Mutation_p.P397L NM_014980.2 NP_055795.1 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 397 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) ATTAGTTTTCCAATCTTTGAA 0.308000 7 26 0 0 0.003080 0 0 TRIOBP 11078 broad.mit.edu 37 22 38119627 38119627 + Missense_Mutation SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr22:38119627G>A ENST00000406386.3 + 7 1319 c.1064G>A c.(1063-1065)aGa>aAa p.R355K RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 355 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) GATAACCCCAGAACCTCTTCT 0.582000 24 82 0 0 0.003330 0 0 PDK3 5165 broad.mit.edu 37 X 24546235 24546235 + Missense_Mutation SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chrX:24546235C>T ENST00000441463.2 + 9 895 c.895C>T c.(895-897)Cgt>Tgt p.R299C PDK3_ENST00000379162.4_Missense_Mutation_p.R299C NM_001142386.2 NP_001135858.1 Q15120 PDK3_HUMAN pyruvate dehydrogenase kinase, isozyme 3 299 Histidine kinase. glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity p.R299C(1) NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 AAAAATAGATCGTCTTTTTAA 0.423000 7 30 0 0 0.003080 0 0 MIR1283-2 100302205 broad.mit.edu 37 19 54261547 54261547 + RNA SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr19:54261547C>T ENST00000408621.1 + 0 62 NR_031696.1 GAAATCGCTTCCCTTTGGAGT 0.448000 12 58 0 0 0.013537 0 0 TRA2B 6434 broad.mit.edu 37 3 185638958 185638958 + Missense_Mutation SNP C C A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr3:185638958C>A ENST00000453386.2 - 6 931 c.656G>T c.(655-657)cGg>cTg p.R219L TRA2B_ENST00000382191.4_Missense_Mutation_p.R119L NM_004593.2 NP_004584.1 P62995 TRA2B_HUMAN transformer 2 beta homolog (Drosophila) 219 Linker. nuclear mRNA splicing, via spliceosome nucleus nucleotide binding|protein binding|RNA binding p.R219L(1) breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1) 18 ATAGTAATCCCGACGGCGAGA 0.418000 8 376 0.00307968 0.00802 0.003080 1 0 AKAP6 9472 broad.mit.edu 37 14 33291332 33291332 + Missense_Mutation SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr14:33291332G>A ENST00000280979.4 + 13 4483 c.4313G>A c.(4312-4314)gGa>gAa p.G1438E AKAP6_ENST00000557272.1_Intron NM_004274.4 NP_004265.3 Q13023 AKAP6_HUMAN A kinase (PRKA) anchor protein 6 1438 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2) 122 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) TGTGTAAATGGAAAAGTTGGA 0.368000 7 17 0 0 0.004482 0 0 NKAIN2 154215 broad.mit.edu 37 6 124604234 124604234 + Silent SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr6:124604234C>T ENST00000368417.1 + 2 198 c.138C>T c.(136-138)atC>atT p.I46I NKAIN2_ENST00000368416.1_Silent_p.I46I|NKAIN2_ENST00000546092.1_Silent_p.I46I|NKAIN2_ENST00000476571.1_3'UTR|NKAIN2_ENST00000545433.1_Silent_p.I31I NM_001040214.1 NP_001035304.1 Q5VXU1 NKAI2_HUMAN Na+/K+ transporting ATPase interacting 2 46 integral to membrane|plasma membrane cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2) 19 GBM - Glioblastoma multiforme(226;0.104) ATATTATTATCGTCATTCTTG 0.348000 15 37 0 0 0.003163 0 0 OR13C4 138804 broad.mit.edu 37 9 107289106 107289106 + Missense_Mutation SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr9:107289106G>A ENST00000277216.3 - 1 384 c.385C>T c.(385-387)Cct>Tct p.P129S NM_001001919.1 NP_001001919.1 Q8NGS5 O13C4_HUMAN olfactory receptor, family 13, subfamily C, member 4 129 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(2)|lung(14)|skin(1) 18 TATCTCAGAGGGTTACAGATG 0.448000 18 53 0 0 0.006122 0 0 SAGE1 55511 broad.mit.edu 37 X 134989122 134989122 + Missense_Mutation SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chrX:134989122G>A ENST00000535938.1 + 8 941 c.774G>A c.(772-774)atG>atA p.M258I SAGE1_ENST00000370709.3_Missense_Mutation_p.M258I|SAGE1_ENST00000324447.3_Missense_Mutation_p.M258I|SAGE1_ENST00000537770.1_Intron NM_018666.2 NP_061136.2 Q9NXZ1 SAGE1_HUMAN sarcoma antigen 1 258 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) AGGAGAAGATGGAAAAGGGCC 0.473000 19 59 0 0 0.007413 0 0 EPB41L4B 54566 broad.mit.edu 37 9 111979209 111979209 + Silent SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr9:111979209G>A ENST00000374566.3 - 16 2143 c.1626C>T c.(1624-1626)tcC>tcT p.S542S NM_019114.3 NP_061987.3 Q9H329 E41LB_HUMAN erythrocyte membrane protein band 4.1 like 4B 542 cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|structural constituent of cytoskeleton NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 CACTTGTAAGGGACTTGCTGC 0.567000 24 94 0 0 0.005443 0 0 KIAA2022 340533 broad.mit.edu 37 X 73962840 73962840 + Missense_Mutation SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chrX:73962840C>T ENST00000373468.1 - 3 2203 c.1552G>A c.(1552-1554)Gaa>Aaa p.E518K KIAA2022_ENST00000055682.5_Missense_Mutation_p.E518K Q5QGS0 K2022_HUMAN KIAA2022 518 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 TCATCATCTTCCTCTTTGGAA 0.378000 7 12 0 0 0.006214 0 0 C15orf27 123591 broad.mit.edu 37 15 76452494 76452494 + Silent SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr15:76452494C>T ENST00000388942.3 + 5 717 c.441C>T c.(439-441)tcC>tcT p.S147S NM_152335.2 NP_689548.2 Q2M3C6 CO027_HUMAN chromosome 15 open reading frame 27 147 integral to membrane endometrium(1)|large_intestine(1)|lung(10)|pancreas(1) 13 TCATTCTGTCCGTGTTCTTCT 0.507000 49 152 0 0 0.014410 0 0 MROH7 374977 broad.mit.edu 37 1 55161093 55161093 + Missense_Mutation SNP A A G TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr1:55161093A>G ENST00000414150.2 + 17 3172 c.2894A>G c.(2893-2895)tAc>tGc p.Y965C MROH7_ENST00000421030.2_Missense_Mutation_p.Y965C|MROH7_ENST00000545244.1_Intron|MROH7_ENST00000454855.2_Missense_Mutation_p.Y483C|MROH7_ENST00000409996.1_Missense_Mutation_p.Y533C|MROH7_ENST00000395690.2_Missense_Mutation_p.Y965C|MROH7_ENST00000339553.5_Missense_Mutation_p.Y965C maestro heat-like repeat family member 7 CGCATCCTCTACCTGCTCATC 0.662000 3 7 0 0 0.009096 0 0 ZNF418 147686 broad.mit.edu 37 19 58437835 58437835 + Missense_Mutation SNP C C G TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr19:58437835C>G ENST00000396147.1 - 4 2005 c.1714G>C c.(1714-1716)Ggg>Cgg p.G572R ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000595830.1_Missense_Mutation_p.G572R|ZNF418_ENST00000599852.1_Missense_Mutation_p.G487R|ZNF418_ENST00000425570.3_Missense_Mutation_p.G593R NM_133460.1 NP_597717.1 Q8TF45 ZN418_HUMAN zinc finger protein 418 572 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 31 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158) AAGAATTTCCCACATTCTCTG 0.443000 16 31 0 0 0.004007 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971028 21971028 + Nonsense_Mutation SNP C C T rs121913389 TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr9:21971028C>T ENST00000304494.5 - 2 600 c.330G>A c.(328-330)tgG>tgA p.W110* RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.G125R|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.G166R|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.G125R NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 110 cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(44)|p.W110*(33)|p.H83fs*2(2)|p.G166R(2)|p.D105fs*8(1)|p.0(1)|p.A68fs*3(1)|p.R107fs*33(1)|p.W110C(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) GCAGACGGCCCCAGGCATCGC 0.736000 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 36 73 0 0 0.004289 0 0 FAM71B 153745 broad.mit.edu 37 5 156590260 156590260 + Missense_Mutation SNP T T C TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr5:156590260T>C ENST00000302938.4 - 2 1111 c.1016A>G c.(1015-1017)gAg>gGg p.E339G NM_130899.2 NP_570969.2 Q8TC56 FA71B_HUMAN family with sequence similarity 71, member B 339 nucleus NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GCTAATACCCTCTGAGGATAT 0.567000 103 335 0 0 0.014410 0 0 SPATA31E1 286234 broad.mit.edu 37 9 90499837 90499837 + Silent SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr9:90499837G>A ENST00000325643.5 + 4 501 c.435G>A c.(433-435)agG>agA p.R145R NM_178828.4 NP_849150.3 SPATA31 subfamily E, member 1 GCCACCTGAGGAAGCTCGCTG 0.672000 9 10 0 0 0.006214 0 0 ZNF251 90987 broad.mit.edu 37 8 145947274 145947274 + Missense_Mutation SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr8:145947274C>T ENST00000292562.7 - 5 2046 c.1771G>A c.(1771-1773)Gaa>Aaa p.E591K ZNF251_ENST00000524394.1_Intron NM_138367.1 NP_612376.1 Q9BRH9 ZN251_HUMAN zinc finger protein 251 591 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1) 17 all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11) GBM - Glioblastoma multiforme(99;0.198) TAGGGCTTTTCCCCAGCATGC 0.433000 32 44 0 0 0.012213 0 0 PTPRH 5794 broad.mit.edu 37 19 55715188 55715188 + Missense_Mutation SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr19:55715188C>T ENST00000376350.3 - 5 870 c.848G>A c.(847-849)gGa>gAa p.G283E PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Intron NM_002842.3 NP_002833.3 Q9HD43 PTPRH_HUMAN protein tyrosine phosphatase, receptor type, H 283 Fibronectin type-III 3. apoptosis cytoplasm|integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 67 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0479) GCTATTTACTCCGTCTTTCTC 0.488000 21 70 0 0 0.014323 0 0 KIAA1377 57562 broad.mit.edu 37 11 101833840 101833840 + Missense_Mutation SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr11:101833840G>A ENST00000263468.8 + 6 2344 c.2074G>A c.(2074-2076)Gat>Aat p.D692N KIAA1377_ENST00000537689.1_Missense_Mutation_p.D493N NM_020802.2 NP_065853.2 Q9P2H0 K1377_HUMAN KIAA1377 692 protein binding breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 53 all_epithelial(12;0.0104) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931) BRCA - Breast invasive adenocarcinoma(274;0.038) GTCCAGGGAGGATTCTATCTC 0.388000 19 60 0 0 0.008871 0 0 PPFIA2 8499 broad.mit.edu 37 12 81747054 81747054 + Missense_Mutation SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr12:81747054G>A ENST00000550584.2 - 16 2133 c.1838C>T c.(1837-1839)cCt>cTt p.P613L PPFIA2_ENST00000407050.4_Missense_Mutation_p.P539L|PPFIA2_ENST00000541570.2_Missense_Mutation_p.P180L|PPFIA2_ENST00000541017.1_5'UTR|PPFIA2_ENST00000443686.3_Missense_Mutation_p.P514L|PPFIA2_ENST00000549325.1_Missense_Mutation_p.P595L|PPFIA2_ENST00000552948.1_Missense_Mutation_p.P613L|PPFIA2_ENST00000549396.1_Missense_Mutation_p.P613L|PPFIA2_ENST00000333447.7_Missense_Mutation_p.P595L|PPFIA2_ENST00000550359.2_Missense_Mutation_p.P460L|PPFIA2_ENST00000548586.1_Missense_Mutation_p.P613L|PPFIA2_ENST00000545296.2_Intron NM_001220473.1 NP_001207402.1 B7Z663 B7Z663_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 539 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 ACTTTCAAAAGGGTGGCTGCT 0.393000 13 38 0 0 0.004007 0 0 DENND4A 10260 broad.mit.edu 37 15 65968786 65968786 + Missense_Mutation SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr15:65968786C>T ENST00000443035.3 - 24 4578 c.4363G>A c.(4363-4365)Gaa>Aaa p.E1455K DENND4A_ENST00000431932.2_Missense_Mutation_p.E1412K NM_001144823.1 NP_001138295.1 Q7Z401 MYCPP_HUMAN DENN/MADD domain containing 4A 1412 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 GACAAACCTTCCAAGGATGCA 0.378000 9 21 0 0 0.006214 0 0 DRAM1 55332 broad.mit.edu 37 12 102295101 102295101 + Missense_Mutation SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr12:102295101G>A ENST00000258534.8 + 3 671 c.232G>A c.(232-234)Gta>Ata p.V78I DRAM1_ENST00000544152.1_Missense_Mutation_p.V78I NM_018370.2 NP_060840.2 Q8N682 DRAM1_HUMAN DNA-damage regulated autophagy modulator 1 78 apoptosis|autophagy integral to membrane|lysosomal membrane central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1) 12 ATACAAAATAGTACAGAAGCA 0.393000 13 20 0 0 0.001855 0 0 FRG1B 284802 broad.mit.edu 37 20 29628263 29628263 + Missense_Mutation SNP A A G TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr20:29628263A>G ENST00000278882.3 + 6 645 c.265A>G c.(265-267)Att>Gtt p.I89V FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V|FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V p.I89V(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TAGCTGCTTTATTAGATGCAA 0.363000 7 51 0 0 0.004482 0 0 ADAM10 102 broad.mit.edu 37 15 58889714 58889714 + Missense_Mutation SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr15:58889714G>A ENST00000402627.1 - 4 217 c.158C>T c.(157-159)cCt>cTt p.P53L ADAM10_ENST00000396140.2_3'UTR|ADAM10_ENST00000260408.3_3'UTR|ADAM10_ENST00000561288.1_Missense_Mutation_p.P20L O14672 ADA10_HUMAN ADAM metallopeptidase domain 10 0 cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3) 27 GBM - Glioblastoma multiforme(80;0.202) TCCCATTGTAGGCACTAGGAA 0.458000 6 35 0 0 0.001168 0 0 GPNMB 10457 broad.mit.edu 37 7 23293870 23293870 + Silent SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr7:23293870C>T ENST00000258733.4 + 3 601 c.306C>T c.(304-306)ttC>ttT p.F102F GPNMB_ENST00000539136.1_Intron|GPNMB_ENST00000381990.2_Silent_p.F102F|GPNMB_ENST00000409458.3_Silent_p.F102F|GPNMB_ENST00000453162.2_Silent_p.F102F Q14956 GPNMB_HUMAN glycoprotein (transmembrane) nmb 102 negative regulation of cell proliferation melanosome breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2) 41 GBM - Glioblastoma multiforme(13;0.154) ACCTGATATTCCCTAGATGCC 0.473000 44 95 0 0 0.011902 0 0 MRGPRD 116512 broad.mit.edu 37 11 68748441 68748441 + Silent SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr11:68748441C>T ENST00000309106.3 - 1 14 c.15G>A c.(13-15)ttG>ttA p.L5L NM_198923.2 NP_944605.2 Q8TDS7 MRGRD_HUMAN MAS-related GPR, member D 5 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2) 22 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) CACTGCTATTCAAAGTCTGGT 0.562000 12 42 0 0 0.002450 0 0 GCOM1 145781 broad.mit.edu 37 15 57925811 57925811 + Splice_Site SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr15:57925811G>A ENST00000574161.1 + 8 924 c.804_splice c.e8-1 p.E269_splice MYZAP_ENST00000267853.5_Splice_Site_p.E269_splice|GCOM1_ENST00000380568.3_Splice_Site_p.E269_splice|GCOM1_ENST00000380560.2_Splice_Site_p.E200_splice|GCOM1_ENST00000396180.1_Splice_Site_p.E238_splice|GCOM1_ENST00000380561.2_Splice_Site_p.E238_splice|POLR2M_ENST00000380563.2_5'UTR|GCOM1_ENST00000380569.2_Splice_Site_p.E269_splice|GCOM1_ENST00000587652.1_Splice_Site_p.E269_splice|GCOM1_ENST00000572390.1_Splice_Site_p.E269_splice|MYZAP_ENST00000380565.4_Splice_Site_p.E269_splice NM_001018100.3 NP_001018110.1 P0CAP1 GCOM1_HUMAN 269 intracellular signal transduction extrinsic to internal side of plasma membrane|I band endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1) 18 TCTTTTGCAGGAAGAAACCAA 0.463000 17 54 0 0 0.006122 0 0 ST6GAL2 84620 broad.mit.edu 37 2 107459793 107459793 + Missense_Mutation SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr2:107459793G>A ENST00000409382.3 - 2 1251 c.641C>T c.(640-642)tCc>tTc p.S214F ST6GAL2_ENST00000409087.3_Missense_Mutation_p.S214F|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.S214F NM_001142351.1 NP_001135823.1 Q96JF0 SIAT2_HUMAN ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 214 growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 65 CAGCATTTTGGAAGAGACGTT 0.637000 10 23 0 0 0.008291 0 0 TGM3 7053 broad.mit.edu 37 20 2297783 2297783 + Missense_Mutation SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr20:2297783C>T ENST00000381458.5 + 6 802 c.739C>T c.(739-741)Cca>Tca p.P247S TGM3_ENST00000463090.1_3'UTR NM_003245.3 NP_003236.3 Q08188 TGM3_HUMAN transglutaminase 3 247 cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization cytoplasm|extrinsic to internal side of plasma membrane acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 39 L-Glutamine(DB00130) TGGCCGGGACCCAAGGAGCTG 0.547000 11 66 0 0 0.008291 0 0 C5orf42 65250 broad.mit.edu 37 5 37183400 37183400 + Missense_Mutation SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr5:37183400G>A ENST00000274258.7 - 26 5113 c.1526C>T c.(1525-1527)tCa>tTa p.S509L C5orf42_ENST00000425232.2_Missense_Mutation_p.S1628L|C5orf42_ENST00000508244.1_Missense_Mutation_p.S1628L E9PH94 E9PH94_HUMAN chromosome 5 open reading frame 42 1628 breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 79 all_lung(31;0.000616) COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202) TGATTTTTCTGATTCATAGGA 0.348000 6 21 0 0 0.001168 0 0 MYOCD 93649 broad.mit.edu 37 17 12626201 12626201 + Missense_Mutation SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr17:12626201G>A ENST00000425538.1 + 5 491 c.291G>A c.(289-291)atG>atA p.M97I MYOCD_ENST00000395988.1_Start_Codon_SNP_p.M1I|MYOCD_ENST00000343344.4_Missense_Mutation_p.M97I NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 97 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) CTGCTCAGATGAAGCTGAAAA 0.443000 25 98 0 0 0.005443 0 0 ITGB8 3696 broad.mit.edu 37 7 20421418 20421418 + Silent SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr7:20421418C>T ENST00000222573.3 + 6 1554 c.870C>T c.(868-870)ctC>ctT p.L290L ITGB8_ENST00000537992.1_Silent_p.L155L NM_002214.2 NP_002205.1 P26012 ITB8_HUMAN integrin, beta 8 290 VWFA. cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development integrin complex protein binding|receptor activity p.L290L(2) NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1) 37 CGTCTCATCTCGCTCTTGATA 0.418000 27 38 0 0 0.005443 0 0 CCDC38 120935 broad.mit.edu 37 12 96311023 96311023 + Missense_Mutation SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr12:96311023G>A ENST00000344280.3 - 4 745 c.188C>T c.(187-189)tCa>tTa p.S63L NM_182496.2 NP_872302.2 Q502W7 CCD38_HUMAN coiled-coil domain containing 38 63 breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 CATTCTGGATGAAAAAGTAGT 0.373000 7 31 0 0 0.003080 0 0 MARCH6 10299 broad.mit.edu 37 5 10415637 10415637 + Silent SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr5:10415637G>A ENST00000274140.5 + 21 2136 c.2004G>A c.(2002-2004)ggG>ggA p.G668G MARCH6_ENST00000449913.2_Silent_p.G620G|MARCH6_ENST00000510792.1_Silent_p.G366G|MARCH6_ENST00000503788.1_Silent_p.G563G NM_005885.2 NP_005876.2 O60337 MARH6_HUMAN membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase 668 protein K48-linked ubiquitination integral to endoplasmic reticulum membrane ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3) 54 TTTGGACGGGGACTGCCAAAA 0.463000 29 81 0 0 0.008361 0 0 PCBP2 5094 broad.mit.edu 37 12 53861171 53861171 + Missense_Mutation SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr12:53861171C>T ENST00000541275.1 + 13 1430 c.881C>T c.(880-882)tCg>tTg p.S294L PCBP2_ENST00000359462.5_Intron|PCBP2_ENST00000359282.5_Intron|PCBP2_ENST00000603815.1_Intron|PCBP2_ENST00000548933.1_Intron|PCBP2_ENST00000455667.3_Intron|PCBP2_ENST00000552296.2_Intron|PCBP2_ENST00000439930.3_Intron|PCBP2_ENST00000447282.1_Intron|PCBP2_ENST00000552819.1_Intron|PCBP2_ENST00000549863.1_Intron|PCBP2_ENST00000437231.1_Intron|RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000546463.1_Intron Q15366 PCBP2_HUMAN poly(rC) binding protein 2 0 KH 3. innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus cytosol|nucleoplasm|ribonucleoprotein complex DNA binding|RNA binding|ubiquitin protein ligase binding central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 15 AAACAAACTTCGTTATCCAGC 0.428000 4 15 0 0 0.009096 0 0 TTN 7273 broad.mit.edu 37 2 179528362 179528362 + Missense_Mutation SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr2:179528362G>A ENST00000589042.1 - 171 36748 c.36524C>T c.(36523-36525)cCt>cTt p.P12175L TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 10323 Ig-like 81. 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) ACCTTTAACAGGTGGGACTTC 0.383000 62 170 0 0 0.014410 0 0 VIL1 7429 broad.mit.edu 37 2 219305465 219305465 + Silent SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr2:219305465G>A ENST00000248444.5 + 19 2338 c.2250G>A c.(2248-2250)gtG>gtA p.V750V VIL1_ENST00000392114.2_Silent_p.V439V NM_007127.2 NP_009058.2 P09327 VILI_HUMAN villin 1 750 Headpiece. actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Renal(207;0.0474) Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GCCCCAAAGTGGACGTGTTCA 0.542000 25 52 0 0 0.006320 0 0 SAMD9 54809 broad.mit.edu 37 7 92733974 92733974 + Silent SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr7:92733974C>T ENST00000379958.2 - 3 1706 c.1437G>A c.(1435-1437)acG>acA p.T479T NM_001193307.1|NM_017654.3 NP_001180236.1|NP_060124.2 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 479 cytoplasm NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) GAGTAGAAATCGTCTCATTTG 0.393000 30 46 0 0 0.012213 0 0 ASS1 445 broad.mit.edu 37 9 133342128 133342128 + Missense_Mutation SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr9:133342128G>A ENST00000372394.1 + 7 918 c.437G>A c.(436-438)aGg>aAg p.R146K ASS1_ENST00000352480.5_Missense_Mutation_p.R146K|ASS1_ENST00000372393.3_Missense_Mutation_p.R146K|ASS1_ENST00000493984.2_3'UTR P00966 ASSY_HUMAN argininosuccinate synthase 1 146 arginine biosynthetic process|urea cycle cytosol argininosuccinate synthase activity|ATP binding|protein binding breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 17 OV - Ovarian serous cystadenocarcinoma(145;0.000514) Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155) GCTCCCTGGAGGATGCCTGAA 0.597000 8 20 0 0 0.006214 0 0 TSHZ1 10194 broad.mit.edu 37 18 72998241 72998241 + Silent SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr18:72998241C>T ENST00000322038.5 + 2 1328 c.744C>T c.(742-744)tcC>tcT p.S248S TSHZ1_ENST00000580243.1_Silent_p.S293S NM_005786.5 NP_005777.3 Q6ZSZ6 TSH1_HUMAN teashirt zinc finger homeobox 1 293 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2) 42 Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211) Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246) GGAAGCGCTCCCTGATGGAGA 0.567000 19 28 0 0 0.007413 0 0 RBM25 58517 broad.mit.edu 37 14 73566427 73566427 + Missense_Mutation SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr14:73566427G>A ENST00000261973.7 + 9 1121 c.836G>A c.(835-837)cGa>cAa p.R279Q RBM25_ENST00000525321.1_Missense_Mutation_p.R279Q|RBM25_ENST00000540173.1_Missense_Mutation_p.R279Q|RBM25_ENST00000526754.1_Missense_Mutation_p.R279Q|RBM25_ENST00000527432.1_Missense_Mutation_p.R279Q NM_021239.2 NP_067062.1 P49756 RBM25_HUMAN RNA binding motif protein 25 279 apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing cytoplasm|nuclear speck mRNA binding|nucleotide binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1) 31 BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688) CTGATATCTCGAGAGATCAGC 0.363000 23 41 0 0 0.003330 0 0 OR6C74 254783 broad.mit.edu 37 12 55641155 55641155 + Silent SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr12:55641155C>T ENST00000343870.4 + 1 174 c.84C>T c.(82-84)ctC>ctT p.L28L NM_001005490.1 NP_001005490.1 A6NCV1 O6C74_HUMAN olfactory receptor, family 6, subfamily C, member 74 28 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1) 12 TTTTTCTTCTCCTTTTTTTCA 0.373000 15 58 0 0 0.004007 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c 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 25 26 0 0 0.004656 0 0 DSG1 1828 broad.mit.edu 37 18 28906969 28906969 + Splice_Site SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr18:28906969G>A ENST00000257192.4 + 3 428 c.e3+1 NM_001942.2 NP_001933.2 Q02413 DSG1_HUMAN desmoglein 1 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) AATCGCCAAAGTAGGTATCAA 0.413000 10 49 0 0 0.010729 0 0 SYNGAP1 8831 broad.mit.edu 37 6 33406690 33406690 + Missense_Mutation SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr6:33406690C>T ENST00000418600.2 + 10 1771 c.1670C>T c.(1669-1671)tCc>tTc p.S557F SYNGAP1_ENST00000428982.2_Missense_Mutation_p.S498F|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.S557F|SYNGAP1_ENST00000496374.1_3'UTR NM_006772.2 NP_006763.2 Q96PV0 SYGP1_HUMAN synaptic Ras GTPase activating protein 1 557 Ras-GAP. negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity|SH3 domain binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1) 43 GTGGTCAACTCCCACTGGTGA 0.562000 23 82 0 0 0.004656 0 0 DNAJC13 23317 broad.mit.edu 37 3 132165331 132165331 + Silent SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr3:132165331C>T ENST00000260818.6 + 3 329 c.81C>T c.(79-81)gtC>gtT p.V27V DNAJC13_ENST00000486798.1_3'UTR NM_015268.3 NP_056083.3 O75165 DJC13_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 13 27 heat shock protein binding breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1) 34 ATAAGCGTGTCTTTTCAGTTG 0.294000 11 28 0 0 0.002450 0 0 LOC101927060 101927060 broad.mit.edu 37 17 45127858 45127858 + RNA SNP T T G TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr17:45127858T>G ENST00000575173.1 - 0 418 AAGGCTCATTTCTCATGTTAT 0.512000 38 201 0 0 0.006999 0 0 MUC16 94025 broad.mit.edu 37 19 9069754 9069754 + Missense_Mutation SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr19:9069754G>A ENST00000397910.4 - 3 17895 c.17692C>T c.(17692-17694)Cca>Tca p.P5898S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 5900 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 TCTGAGTGTGGAAATCTCTGA 0.517000 26 75 0 0 0.008361 0 0 SLC22A16 85413 broad.mit.edu 37 6 110777798 110777798 + Missense_Mutation SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr6:110777798G>A ENST00000368919.3 - 2 542 c.476C>T c.(475-477)cCc>cTc p.P159L SLC22A16_ENST00000439654.1_Missense_Mutation_p.P159L|SLC22A16_ENST00000330550.4_Missense_Mutation_p.P125L|SLC22A16_ENST00000461487.1_5'UTR|SLC22A16_ENST00000456137.2_Missense_Mutation_p.P159L NM_033125.3 NP_149116.2 Q86VW1 S22AG_HUMAN solute carrier family 22 (organic cation/carnitine transporter), member 16 159 acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis integral to membrane carnitine transporter activity breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 34 all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101) OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115) CATAAATAGGGGCTGGATCAG 0.443000 18 46 0 0 0.006122 0 0 MUC3A 4584 broad.mit.edu 37 7 100549633 100549633 + Missense_Mutation SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr7:100549633G>A ENST00000379458.4 + 2 214 c.214G>A c.(214-216)Gaa>Aaa p.72_72insK MUC3A_ENST00000483366.1_3'UTR mucin 3A, cell surface associated breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3) 44 TGGCCACAGGGAAAATGCACC 0.577000 8 120 0 0 0.013537 0 0 NUP188 23511 broad.mit.edu 37 9 131735486 131735486 + Silent SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr9:131735486C>T ENST00000372577.2 + 12 1182 c.1161C>T c.(1159-1161)ttC>ttT p.F387F NM_015354.1 NP_056169.1 Q5SRE5 NU188_HUMAN nucleoporin 188kDa 387 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 60 TGCTCTCTTTCGTTCTGACCT 0.502000 9 36 0 0 0.006214 0 0 GAD1 2571 broad.mit.edu 37 2 171715347 171715347 + Missense_Mutation SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr2:171715347C>T ENST00000358196.3 + 16 2105 c.1555C>T c.(1555-1557)Cca>Tca p.P519S NM_000817.2 NP_000808.2 Q99259 DCE1_HUMAN glutamate decarboxylase 1 (brain, 67kDa) 519 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2) 35 L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) TTGGTATATTCCACAAAGCCT 0.428000 9 39 0 0 0.010729 0 0 APLP1 333 broad.mit.edu 37 19 36365501 36365501 + Silent SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr19:36365501C>T ENST00000221891.4 + 9 1344 c.1152C>T c.(1150-1152)atC>atT p.I384I APLP1_ENST00000589298.2_3'UTR|APLP1_ENST00000586861.1_Silent_p.I378I|APLP1_ENST00000537454.2_Silent_p.I345I NM_001024807.1|NM_005166.3 NP_001019978.1|NP_005157.1 P51693 APLP1_HUMAN amyloid beta (A4) precursor-like protein 1 384 apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1) 33 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) TCGCCCTTATCAACGACCAGC 0.662000 21 74 0 0 0.004656 0 0 TENM4 26011 broad.mit.edu 37 11 78399181 78399181 + Silent SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr11:78399181G>A ENST00000278550.7 - 29 5640 c.5178C>T c.(5176-5178)gtC>gtT p.V1726V NM_001098816.2 NP_001092286.2 teneurin transmembrane protein 4 TCTCTACCTGGACATGCACTG 0.547000 39 108 0 0 0.005524 0 0 GRXCR2 643226 broad.mit.edu 37 5 145246117 145246117 + Missense_Mutation SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr5:145246117C>T ENST00000377976.1 - 2 510 c.511G>A c.(511-513)Gat>Aat p.D171N NM_001080516.1 NP_001073985.1 A6NFK2 GRCR2_HUMAN glutaredoxin, cysteine rich 2 171 breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2) 7 AAAGGTCTATCGTGCTGGTCC 0.512000 18 82 0 0 0.007413 0 0 SPATA31C1 441452 broad.mit.edu 37 9 90535284 90535284 + RNA SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr9:90535284G>A ENST00000602681.1 + 0 1188 ATGAGCCTATGGAAGATGCTG 0.577000 41 116 0 0 0.014410 0 0 TAOK3 51347 broad.mit.edu 37 12 118588821 118588821 + Missense_Mutation SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr12:118588821G>A ENST00000392533.3 - 21 3168 c.2678C>T c.(2677-2679)cCt>cTt p.P893L TAOK3_ENST00000419821.2_Missense_Mutation_p.P893L|TAOK3_ENST00000543709.1_Intron|TAOK3_ENST00000536979.1_Missense_Mutation_p.P88L|TAOK3_ENST00000537952.1_Missense_Mutation_p.P433L NM_016281.3 NP_057365.3 Q9H2K8 TAOK3_HUMAN TAO kinase 3 893 MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation mitochondrion|plasma membrane ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity central_nervous_system(1)|lung(5)|skin(1) 7 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GTCCTCCTTAGGAAAATCTAA 0.338000 18 57 0 0 0.010504 0 0 ZNF676 163223 broad.mit.edu 37 19 22362910 22362910 + Missense_Mutation SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr19:22362910C>T ENST00000397121.2 - 3 1926 c.1609G>A c.(1609-1611)Gaa>Aaa p.E537K NM_001001411.2 NP_001001411.2 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 537 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 67 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) TTGCCACATTCTTCACATTTG 0.418000 7 43 0 0 0.004482 0 0 C2orf16 84226 broad.mit.edu 37 2 27801614 27801614 + Silent SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr2:27801614G>A ENST00000408964.2 + 1 2226 c.2175G>A c.(2173-2175)ggG>ggA p.G725G NM_032266.3 NP_115642.3 Q68DN1 CB016_HUMAN chromosome 2 open reading frame 16 725 breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1) 47 Acute lymphoblastic leukemia(172;0.155) TACAAGTAGGGACTGACTTCT 0.433000 17 51 0 0 0.004990 0 0 PREX2 80243 broad.mit.edu 37 8 69104649 69104649 + Missense_Mutation SNP G G C TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr8:69104649G>C ENST00000288368.4 + 37 4770 c.4493G>C c.(4492-4494)tGt>tCt p.C1498S 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 1498 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 ACAGCTGCCTGTGCAAACACA 0.527000 3 31 0 0 0.004672 0 0 PPP6R2 9701 broad.mit.edu 37 22 50869686 50869686 + Missense_Mutation SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr22:50869686C>T ENST00000359139.3 + 11 1604 c.1210C>T c.(1210-1212)Cgt>Tgt p.R404C PPP6R2_ENST00000395741.3_Missense_Mutation_p.R405C|PPP6R2_ENST00000395744.3_Missense_Mutation_p.R404C|PPP6R2_ENST00000216061.5_Missense_Mutation_p.R404C NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4 NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2 O75170 PP6R2_HUMAN protein phosphatase 6, regulatory subunit 2 404 cytoplasm|intracellular membrane-bounded organelle protein binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1) 22 CCACGCTGCCCGTGAGGAGAG 0.572000 27 45 0 0 0.003954 0 0 TMEM92 162461 broad.mit.edu 37 17 48356327 48356327 + Silent SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr17:48356327C>T ENST00000300433.3 + 5 446 c.336C>T c.(334-336)tcC>tcT p.S112S TMEM92_ENST00000507382.1_Silent_p.S112S|TMEM92_ENST00000511882.1_3'UTR NM_001168215.1 NP_001161687.1 Q6UXU6 TMM92_HUMAN transmembrane protein 92 112 Pro-rich. integral to membrane NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1) 7 TCAGAGTATCCCTTTCTGCGC 0.652000 5 29 0 0 0.000602 0 0 EFCAB3 146779 broad.mit.edu 37 17 60484004 60484004 + Missense_Mutation SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr17:60484004G>A ENST00000450662.2 + 9 879 c.808G>A c.(808-810)Gat>Aat p.D270N EFCAB3_ENST00000305286.3_Missense_Mutation_p.D218N NM_001144933.1 NP_001138405.1 Q8N7B9 EFCB3_HUMAN EF-hand calcium binding domain 3 218 calcium ion binding cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3) 17 BRCA - Breast invasive adenocarcinoma(2;2.27e-11) GAAAGAAAAGGATTTATTTAA 0.383000 6 29 0 0 0.001984 0 0 LOC440040 440040 broad.mit.edu 37 11 49597787 49597787 + RNA SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr11:49597787C>T ENST00000527477.1 + 0 391 AGCTGGAACTCCTGTCCTAAA 0.473000 6 7 0 0 0.001984 0 0 OR4C13 283092 broad.mit.edu 37 11 49974628 49974628 + Silent SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr11:49974628C>T ENST00000555099.1 + 1 686 c.654C>T c.(652-654)gtC>gtT p.V218V NM_001001955.2 NP_001001955.2 Q8NGP0 OR4CD_HUMAN olfactory receptor, family 4, subfamily C, member 13 218 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 43 CCTGCGTGGTCATACTGTACT 0.488000 14 61 0 0 0.003163 0 0 PYDC2 152138 broad.mit.edu 37 3 191178959 191178959 + Missense_Mutation SNP C C A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr3:191178959C>A ENST00000518817.1 + 1 8 c.8C>A c.(7-9)tCt>tAt p.S3Y NM_001083308.1 NP_001076777.1 Q56P42 PYDC2_HUMAN pyrin domain containing 2 3 DAPIN. cytoplasm|nucleus breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 10 AAGATGGCATCTTCTGCAGAG 0.453000 17 58 8.10497e-08 2.16133e-07 0.010504 1 0 CXCR4 7852 broad.mit.edu 37 2 136873378 136873378 + Silent SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr2:136873378G>A ENST00000409817.1 - 1 435 c.132C>T c.(130-132)ttC>ttT p.F44F CXCR4_ENST00000241393.3_Silent_p.F40F|CXCR4_ENST00000466288.1_5'UTR NM_001008540.1 NP_001008540.1 P61073 CXCR4_HUMAN chemokine (C-X-C motif) receptor 4 40 activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane actin binding|C-X-C chemokine receptor activity|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 BRCA - Breast invasive adenocarcinoma(221;0.155) Framycetin(DB00452) TGGTGGGCAGGAAGATTTTAT 0.453000 29 56 0 0 0.006320 0 0 TAS1R2 80834 broad.mit.edu 37 1 19180943 19180943 + Missense_Mutation SNP A A C TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr1:19180943A>C ENST00000375371.3 - 3 1042 c.1021T>G c.(1021-1023)Tgg>Ggg p.W341G RP13-279N23.2_ENST00000494072.3_3'UTR NM_152232.2 NP_689418.2 Q8TE23 TS1R2_HUMAN taste receptor, type 1, member 2 341 detection of chemical stimulus involved in sensory perception of sweet taste plasma membrane protein heterodimerization activity|taste receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1) 45 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) Aspartame(DB00168) TGTGGGCCCCACTCGCGGAAC 0.647000 11 28 0 0 0.008291 0 0 SCAND3 114821 broad.mit.edu 37 6 28543318 28543318 + Silent SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr6:28543318C>T ENST00000452236.2 - 3 1781 c.1164G>A c.(1162-1164)ggG>ggA p.G388G NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 388 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 ATCTGTACTCCCCATCAGGAT 0.343000 14 47 0 0 0.001855 0 0 FBXO40 51725 broad.mit.edu 37 3 121342139 121342139 + Nonsense_Mutation SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr3:121342139G>A ENST00000338040.4 + 3 2277 c.1863G>A c.(1861-1863)tgG>tgA p.W621* NM_016298.3 NP_057382.2 Q9UH90 FBX40_HUMAN F-box protein 40 621 F-box. muscle cell differentiation centrosome|nucleus ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 GBM - Glioblastoma multiforme(114;0.189) TTTTGCAATGGAAGAAAAAGA 0.458000 12 43 0 0 0.013537 0 0 TTYH2 94015 broad.mit.edu 37 17 72256272 72256272 + Missense_Mutation SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr17:72256272C>T ENST00000441391.2 + 8 1778 c.566C>T c.(565-567)tCt>tTt p.S189F TTYH2_ENST00000529107.1_Missense_Mutation_p.S489F|TTYH2_ENST00000269346.4_Missense_Mutation_p.S510F|CTD-2514K5.4_ENST00000583018.1_RNA NM_052869.1 NP_443101.1 Q9BSA4 TTYH2_HUMAN tweety family member 2 510 chloride channel complex|plasma membrane chloride channel activity|protein binding breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1) 36 TGGCAGTACTCTCCCAGCATG 0.582000 41 133 0 0 0.011902 0 0 PAX9 5083 broad.mit.edu 37 14 37145436 37145436 + Missense_Mutation SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr14:37145436G>A ENST00000361487.6 + 4 1030 c.805G>A c.(805-807)Gtg>Atg p.V269M PAX9_ENST00000554201.1_Silent_p.L78L|PAX9_ENST00000557107.1_3'UTR|PAX9_ENST00000402703.2_Missense_Mutation_p.V269M P55771 PAX9_HUMAN paired box 9 269 multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(3) 12 Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218) Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189) GBM - Glioblastoma multiforme(112;0.0181) GGGCAGTTTTGTGTCAGCATC 0.483000 24 35 0 0 0.005443 0 0 GRAMD1C 54762 broad.mit.edu 37 3 113658823 113658823 + Silent SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr3:113658823C>T ENST00000358160.4 + 16 2274 c.1782C>T c.(1780-1782)ctC>ctT p.L594L GRAMD1C_ENST00000472026.1_Silent_p.L427L|GRAMD1C_ENST00000452134.2_Silent_p.L323L|GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000440446.2_Silent_p.L389L NM_017577.4 NP_060047.3 Q8IYS0 GRM1C_HUMAN GRAM domain containing 1C 594 integral to membrane NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3) 26 GTCTCCGCCTCCAAGAAGAGA 0.378000 20 32 0 0 0.012319 0 0 IGF2 3481 broad.mit.edu 37 11 2156627 2156627 + Missense_Mutation SNP A A G TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr11:2156627A>G ENST00000416167.2 - 2 1293 c.127T>C c.(127-129)Ttc>Ctc p.F43L IGF2_ENST00000434045.2_Missense_Mutation_p.F99L|IGF2_ENST00000381392.1_Missense_Mutation_p.F43L|IGF2_ENST00000381389.1_Missense_Mutation_p.F43L|IGF2_ENST00000418738.2_Missense_Mutation_p.F43L|IGF2_ENST00000337883.6_Missense_Mutation_p.F43L|IGF2_ENST00000381406.4_Missense_Mutation_p.F43L|IGF2_ENST00000381395.1_Missense_Mutation_p.F43L|IGF2_ENST00000300632.5_Missense_Mutation_p.F43L P01344 IGF2_HUMAN insulin-like growth factor 2 (somatomedin A) 43 B. glucose metabolic process|ossification|phosphatidylinositol 3-kinase cascade involved in insulin receptor signaling|positive regulation of activated T cell proliferation|positive regulation of cell division|positive regulation of glycogen (starch) synthase activity|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|skeletal system development extracellular space growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|protein serine/threonine kinase activator activity|receptor activator activity central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1) 6 all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24) Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029) BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153) CCACAGACGAACTGGAGGGTG 0.632000 6 14 0 0 0.001168 0 0 LARP1B 55132 broad.mit.edu 37 4 129043225 129043225 + Missense_Mutation SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr4:129043225C>T ENST00000326639.6 + 11 1617 c.1406C>T c.(1405-1407)aCc>aTc p.T469I LARP1B_ENST00000427266.1_Missense_Mutation_p.T469I|LARP1B_ENST00000354456.3_5'UTR|LARP1B_ENST00000264584.5_Missense_Mutation_p.T422I|LARP1B_ENST00000441387.1_Missense_Mutation_p.T469I|LARP1B_ENST00000512292.1_Missense_Mutation_p.T469I NM_018078.2 NP_060548.2 Q659C4 LAR1B_HUMAN La ribonucleoprotein domain family, member 1B 469 RNA binding endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3) 34 CGAACAGGCACCCACATGTCT 0.373000 11 28 0 0 0.010729 0 0 PCSK4 54760 broad.mit.edu 37 19 1487004 1487004 + Missense_Mutation SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr19:1487004C>T ENST00000300954.5 - 8 977 c.916G>A c.(916-918)Gac>Aac p.D306N NM_017573.3 NP_060043.2 Q6UW60 PCSK4_HUMAN proprotein convertase subtilisin/kexin type 4 306 Catalytic (By similarity). proteolysis integral to membrane serine-type endopeptidase activity cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 15 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TTGCAGTTGTCGTAGTGCAGG 0.706000 15 40 0 0 0.003163 0 0 NRP2 8828 broad.mit.edu 37 2 206608069 206608069 + Silent SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr2:206608069C>T ENST00000360409.3 + 9 2225 c.1434C>T c.(1432-1434)atC>atT p.I478I NRP2_ENST00000272849.3_Silent_p.I478I|NRP2_ENST00000357118.4_Silent_p.I478I|NRP2_ENST00000357785.5_Silent_p.I478I|NRP2_ENST00000355117.4_Silent_p.I478I|NRP2_ENST00000417189.1_Silent_p.I478I|NRP2_ENST00000540841.1_Silent_p.I478I|NRP2_ENST00000540178.1_Silent_p.I478I|NRP2_ENST00000412873.2_Silent_p.I478I NM_003872.2|NM_201266.1|NM_201279.1 NP_003863.2|NP_957718.1|NP_958436.1 O60462 NRP2_HUMAN neuropilin 2 478 F5/8 type C 2. angiogenesis|axon guidance|cell adhesion integral to membrane|membrane fraction|plasma membrane heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 52 TCCCTCGAATCCCTCAGGCCC 0.617000 19 55 0 0 0.006122 0 0 PRRT3 285368 broad.mit.edu 37 3 9991656 9991656 + Silent SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr3:9991656C>T ENST00000412055.1 - 2 273 c.144G>A c.(142-144)aaG>aaA p.K48K PRRT3_ENST00000411976.2_Silent_p.K48K|PRRT3-AS1_ENST00000431558.1_RNA NM_207351.3 NP_997234.3 Q5FWE3 PRRT3_HUMAN proline-rich transmembrane protein 3 48 integral to membrane NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2) 13 CCACAGAGCCCTTGGGGTGGG 0.632000 11 36 0 0 0.010729 0 0 BIRC3 330 broad.mit.edu 37 11 102207729 102207729 + Missense_Mutation SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr11:102207729C>T ENST00000263464.3 + 9 4461 c.1711C>T c.(1711-1713)Cct>Tct p.P571S BIRC3_ENST00000532808.1_Missense_Mutation_p.P571S NM_001165.4 NP_001156.1 Q13489 BIRC3_HUMAN baculoviral IAP repeat containing 3 571 anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway cytoplasm|nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1) 21 all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093) Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0146) AGTGTTTATTCCTTGTGGTCA 0.383000 T MALT1 MALT 8 25 0 0 0.003080 0 0 RP1L1 94137 broad.mit.edu 37 8 10467849 10467849 + Silent SNP T T C TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr8:10467849T>C ENST00000382483.3 - 4 3982 c.3759A>G c.(3757-3759)caA>caG p.Q1253Q NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 1253 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) AACACTGCTGTTGGTTTTCCA 0.557000 15 43 0 0 0.003163 0 0 VWC2 375567 broad.mit.edu 37 7 49842344 49842344 + Missense_Mutation SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr7:49842344G>A ENST00000340652.3 + 3 1290 c.734G>A c.(733-735)gGt>gAt p.G245D NM_198570.3 NP_940972.2 Q2TAL6 VWC2_HUMAN von Willebrand factor C domain containing 2 245 VWFC 2. negative regulation of BMP signaling pathway|positive regulation of neuron differentiation basement membrane|extracellular space cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1) 8 GAAGCCAACGGTGAGGTGCTA 0.522000 32 82 0 0 0.010818 0 0 SGIP1 84251 broad.mit.edu 37 1 67194951 67194951 + Missense_Mutation SNP A A T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr1:67194951A>T ENST00000371037.4 + 20 1824 c.1747A>T c.(1747-1749)Atc>Ttc p.I583F SGIP1_ENST00000371035.3_Missense_Mutation_p.I373F|SGIP1_ENST00000371036.3_Missense_Mutation_p.I385F|SGIP1_ENST00000371039.1_Missense_Mutation_p.I386F|SGIP1_ENST00000237247.6_Missense_Mutation_p.I614F|SGIP1_ENST00000435165.2_Missense_Mutation_p.I88F NM_032291.2 NP_115667.2 Q9BQI5 SGIP1_HUMAN SH3-domain GRB2-like (endophilin) interacting protein 1 583 positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess AP-2 adaptor complex microtubule binding|phospholipid binding|SH3 domain binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 71 TGCCAGATGTATCGTTAAGAT 0.423000 9 22 0 0 0.008291 0 0 RAPGEF3 10411 broad.mit.edu 37 12 48132517 48132517 + Missense_Mutation SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr12:48132517C>T ENST00000405493.2 - 25 2565 c.2356G>A c.(2356-2358)Gga>Aga p.G786R RAPGEF3_ENST00000549151.1_Missense_Mutation_p.G786R|RP1-197B17.3_ENST00000547799.1_lincRNA|RAPGEF3_ENST00000548919.1_Missense_Mutation_p.G719R|RAPGEF3_ENST00000171000.4_Missense_Mutation_p.G786R|RAPGEF3_ENST00000449771.2_Missense_Mutation_p.G828R|RAPGEF3_ENST00000389212.3_Missense_Mutation_p.G828R NM_001098532.2|NM_006105.5 NP_001092002.1|NP_006096.2 A8K2G5 A8K2G5_HUMAN Rap guanine nucleotide exchange factor (GEF) 3 786 regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cAMP-dependent protein kinase complex cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity p.G786R(1) endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7) 25 Lung SC(27;0.192) GBM - Glioblastoma multiforme(48;0.0375) GTGTGGTTTCCCTCATGAATG 0.478000 20 74 0 0 0.003330 0 0 FGG 2266 broad.mit.edu 37 4 155530802 155530802 + Missense_Mutation SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr4:155530802C>T ENST00000404648.3 - 6 885 c.646G>A c.(646-648)Gga>Aga p.G216R FGG_ENST00000407946.1_Missense_Mutation_p.G224R|FGG_ENST00000405164.1_Missense_Mutation_p.G224R|FGG_ENST00000336098.3_Missense_Mutation_p.G216R NM_000509.4 NP_000500.2 P02679 FIBG_HUMAN fibrinogen gamma chain 216 Fibrinogen C-terminal. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_hematologic(180;0.215) Renal(120;0.0458) Sucralfate(DB00364) ACAGTCCATCCATTTCCAGAC 0.388000 20 23 0 0 0.003330 0 0 DSC1 1823 broad.mit.edu 37 18 28725676 28725676 + Silent SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr18:28725676C>T ENST00000257197.3 - 7 1098 c.837G>A c.(835-837)ctG>ctA p.L279L DSC1_ENST00000257198.5_Silent_p.L279L|RP11-408H20.2_ENST00000581836.1_RNA NM_004948.3 NP_004939.1 Q08554 DSC1_HUMAN desmocollin 1 279 Cadherin 2. 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) TTTTATATTTCAGACGAGTAT 0.408000 16 49 0 0 0.004990 0 0 KLK2 3817 broad.mit.edu 37 19 51379954 51379954 + Missense_Mutation SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr19:51379954G>A ENST00000325321.3 + 3 658 c.433G>A c.(433-435)Gag>Aag p.E145K KLK2_ENST00000358049.4_Missense_Mutation_p.E145K|KLK2_ENST00000391810.2_Missense_Mutation_p.E43K P20151 KLK2_HUMAN kallikrein-related peptidase 2 145 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) GCCCACCCAGGAGCCAGCACT 0.617000 T ETV4 prostate 11 16 0 0 0.010729 0 0 IGFN1 91156 broad.mit.edu 37 1 201195139 201195139 + Silent SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr1:201195139C>T ENST00000335211.4 + 22 10804 c.10674C>T c.(10672-10674)ctC>ctT p.L3558L IGFN1_ENST00000295591.8_3'UTR NM_001164586.1 NP_001158058.1 immunoglobulin-like and fibronectin type III domain containing 1 autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 GCTTCACCCTCCTGGGCATCC 0.662000 10 34 0 0 0.008291 0 0 ZC4H2 55906 broad.mit.edu 37 X 64141834 64141834 + Missense_Mutation SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chrX:64141834G>A ENST00000545618.1 - 3 636 c.73C>T c.(73-75)Cgt>Tgt p.R25C ZC4H2_ENST00000374839.3_Missense_Mutation_p.R30C|ZC4H2_ENST00000488608.1_5'UTR|ZC4H2_ENST00000447788.2_Missense_Mutation_p.R30C|ZC4H2_ENST00000337990.2_Missense_Mutation_p.R7C Q9NQZ6 ZC4H2_HUMAN zinc finger, C4H2 domain containing 30 metal ion binding|protein binding endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 GCCTTCAAACGAGCCTTGATC 0.483000 13 34 0 0 0.002450 0 0 MMP7 4316 broad.mit.edu 37 11 102401358 102401358 + Missense_Mutation SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr11:102401358C>T ENST00000260227.4 - 1 126 c.74G>A c.(73-75)gGa>gAa p.G25E NM_002423.3 NP_002414.1 P09237 MMP7_HUMAN matrix metallopeptidase 7 (matrilysin, uterine) 25 collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 12 all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033) Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0147) ACTCATGCCTCCCGCCTCCTG 0.547000 14 33 0 0 0.004990 0 0 MYOCD 93649 broad.mit.edu 37 17 12639507 12639507 + Missense_Mutation SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr17:12639507G>A ENST00000425538.1 + 6 645 c.445G>A c.(445-447)Gat>Aat p.D149N MYOCD_ENST00000395988.1_Missense_Mutation_p.D53N|MYOCD_ENST00000343344.4_Missense_Mutation_p.D149N NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 149 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) CAAATCCACGGATGCTTTTGC 0.532000 52 140 0 0 0.014410 0 0 SH3GL3 6457 broad.mit.edu 37 15 84257443 84257443 + Missense_Mutation SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr15:84257443G>A ENST00000324537.5 + 11 1274 c.782G>A c.(781-783)cGa>cAa p.R261Q SH3GL3_ENST00000434347.1_Missense_Mutation_p.R261Q|SH3GL3_ENST00000535412.1_Missense_Mutation_p.R253Q|SH3GL3_ENST00000427482.2_Missense_Mutation_p.R253Q Q99963 SH3G3_HUMAN SH3-domain GRB2-like 3 253 central nervous system development|endocytosis|signal transduction early endosome membrane identical protein binding|lipid binding central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1) 30 GTCCCCAGACGAGAATACAAG 0.458000 11 37 0 0 0.008291 0 0 NR2F1 7025 broad.mit.edu 37 5 92923685 92923685 + Missense_Mutation SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr5:92923685G>A ENST00000327111.3 + 2 2213 c.526G>A c.(526-528)Ggg>Agg p.G176R NM_005654.4 NP_005645.1 P10589 COT1_HUMAN nuclear receptor subfamily 2, group F, member 1 176 negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2) 21 all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19) UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18) ACTCACCAACGGGGACCCCCT 0.607000 15 37 0 0 0.002450 0 0 KIR3DL1 3811 broad.mit.edu 37 19 55331168 55331168 + Splice_Site SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr19:55331168G>A ENST00000391728.4 + 4 389 c.355_splice c.e4-1 p.G119_splice KIR3DL1_ENST00000326542.7_Splice_Site_p.G119_splice|KIR3DL1_ENST00000358178.4_Splice_Site_p.G24_splice|KIR3DL1_ENST00000402254.2_Splice_Site_p.G119_splice|KIR3DL1_ENST00000541392.1_Splice_Site_p.G119_splice|KIR3DL1_ENST00000538269.1_Splice_Site_p.G119_splice NM_013289.2 NP_037421.2 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 11 GBM - Glioblastoma multiforme(193;0.0192) CTCTTTCTAGGAAACCACAGA 0.502000 16 42 0 0 0.009535 0 0 RGS5 8490 broad.mit.edu 37 1 163117255 163117255 + Silent SNP C C T rs148613695 TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr1:163117255C>T ENST00000313961.5 - 5 700 c.423G>A c.(421-423)aaG>aaA p.K141K RGS5_ENST00000530507.1_Silent_p.K145K|RGS5_ENST00000367903.3_Silent_p.K161K|RGS5_ENST00000527988.1_Silent_p.K33K NM_001254749.1|NM_003617.3 NP_001241678.1|NP_003608.1 O15539 RGS5_HUMAN regulator of G-protein signaling 5 141 RGS. negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|plasma membrane GTPase activator activity|signal transducer activity autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 20 LUSC - Lung squamous cell carcinoma(543;0.187) CCACCAGGTTCTTCATTGTGA 0.473000 10 41 0 0 0.008291 0 0 CPED1 79974 broad.mit.edu 37 7 120906863 120906863 + Splice_Site SNP G G T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr7:120906863G>T ENST00000310396.5 + 20 3100 c.e20+1 NM_024913.4 NP_079189.4 cadherin-like and PC-esterase domain containing 1 TTTTGAAGAGGTAAATGTCTG 0.348000 19 25 6.49762e-13 1.74199e-12 0.006122 1 0 MIR522 574495 broad.mit.edu 37 19 54254479 54254479 + RNA SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr19:54254479C>T ENST00000385071.1 + 0 15 NR_030217.1 AGGCTGTGTCCCTCTAGAGGG 0.408000 37 53 0 0 0.008740 0 0 LIPN 643418 broad.mit.edu 37 10 90526048 90526048 + Missense_Mutation SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr10:90526048G>A ENST00000404459.1 + 4 448 c.448G>A c.(448-450)Gat>Aat p.D150N NM_001102469.1 NP_001095939.1 Q5VXI9 LIPN_HUMAN lipase, family member N 150 lipid catabolic process extracellular region hydrolase activity endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1) 9 Colorectal(252;0.0161) Colorectal(12;4.83e-05)|COAD - Colon adenocarcinoma(12;6.5e-05) GGCCAAATATGATCTCCCAGG 0.333000 18 58 0 0 0.010504 0 0 ROR2 4920 broad.mit.edu 37 9 94486933 94486933 + Missense_Mutation SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr9:94486933C>T ENST00000375708.3 - 9 2041 c.1843G>A c.(1843-1845)Gac>Aac p.D615N ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Missense_Mutation_p.D475N NM_004560.3 NP_004551.2 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 615 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 GTGGCCAGGTCCTTGTGAACC 0.592000 17 68 0 0 0.008871 0 0 FGF9 2254 broad.mit.edu 37 13 22275499 22275499 + Silent SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr13:22275499C>T ENST00000382353.5 + 3 1082 c.552C>T c.(550-552)ttC>ttT p.F184F FGF9_ENST00000478546.1_3'UTR NM_002010.2 NP_002001.1 P31371 FGF9_HUMAN fibroblast growth factor 9 184 cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|male gonad development|positive regulation of cell division extracellular space growth factor activity|heparin binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(2) 9 all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106) all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163) ACCAGAAATTCACACATTTTT 0.433000 13 23 0 0 0.013537 0 0 FBXW5 54461 broad.mit.edu 37 9 139835775 139835775 + Missense_Mutation SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr9:139835775G>A ENST00000325285.3 - 8 1464 c.1385C>T c.(1384-1386)gCg>gTg p.A462V FBXW5_ENST00000483559.1_5'UTR NM_018998.3 NP_061871.1 Q969U6 FBXW5_HUMAN F-box and WD repeat domain containing 5 462 catalytic activity|protein binding breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 12 all_cancers(76;0.11) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.19) OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106) GGCGCGGTGCGCACGCAGAGC 0.672000 7 22 0 0 0.003080 0 0 GJA8 2703 broad.mit.edu 37 1 147380868 147380868 + Missense_Mutation SNP A A C TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr1:147380868A>C ENST00000240986.4 + 2 839 c.786A>C c.(784-786)aaA>aaC p.K262N GJA8_ENST00000369235.1_Missense_Mutation_p.K262N NM_005267.4 NP_005258.2 P48165 CXA8_HUMAN gap junction protein, alpha 8, 50kDa 262 cell communication|visual perception connexon complex|integral to plasma membrane channel activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1) 37 all_hematologic(923;0.0276) CCATCCAGAAAGCCAAGGGCT 0.557000 7 42 0 0 0.001984 0 0 CPSF6 11052 broad.mit.edu 37 12 69652823 69652823 + Missense_Mutation SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr12:69652823C>T ENST00000435070.2 + 6 1258 c.1148C>T c.(1147-1149)cCa>cTa p.P383L CPSF6_ENST00000456847.3_Missense_Mutation_p.P310L|CPSF6_ENST00000266679.8_Missense_Mutation_p.P420L|CPSF6_ENST00000551516.1_Intron NM_007007.2 NP_008938.2 Q16630 CPSF6_HUMAN cleavage and polyadenylation specific factor 6, 68kDa 383 Pro-rich. mRNA polyadenylation|protein tetramerization mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex mRNA binding|nucleotide binding|protein binding endometrium(1)|large_intestine(7)|lung(8) 16 all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187) Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241) CCAACAGATCCATATGGGCGA 0.512000 19 46 0 0 0.008871 0 0 AOAH 313 broad.mit.edu 37 7 36677509 36677509 + Nonsense_Mutation SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr7:36677509C>T ENST00000431169.1 - 5 698 c.398G>A c.(397-399)tGg>tAg p.W133* AOAH_ENST00000258749.5_Nonsense_Mutation_p.W133*|AOAH_ENST00000535891.1_Nonsense_Mutation_p.W101* NM_001177506.1 NP_001170977.1 P28039 AOAH_HUMAN acyloxyacyl hydrolase (neutrophil) 133 inflammatory response|lipid metabolic process extracellular region acyloxyacyl hydrolase activity|lipoprotein lipase activity NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 41 TGTAAATTTCCATGTCTCCTA 0.363000 5 38 0 0 0.001168 0 0 HTR2C 3358 broad.mit.edu 37 X 114141517 114141517 + Missense_Mutation SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chrX:114141517G>A ENST00000276198.1 + 6 1644 c.916G>A c.(916-918)Gaa>Aaa p.E306K HTR2C_ENST00000371951.1_Missense_Mutation_p.E306K|HTR2C_ENST00000371950.3_3'UTR NM_000868.2 NP_000859.1 P28335 5HT2C_HUMAN 5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled 306 cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission cytoplasm|integral to membrane|nucleus|plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246) TATCAACAATGAAAGAAAAGC 0.443000 31 57 0 0 0.007291 0 0 TGM6 343641 broad.mit.edu 37 20 2380983 2380983 + Silent SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr20:2380983C>T ENST00000202625.2 + 7 943 c.882C>T c.(880-882)gtC>gtT p.V294V TGM6_ENST00000477505.1_3'UTR|TGM6_ENST00000381423.1_Silent_p.V294V NM_198994.2 NP_945345.2 O95932 TGM3L_HUMAN transglutaminase 6 294 cell death|peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity p.V294V(1) breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4) 52 L-Glutamine(DB00130) CCACACGGGTCGTGTCCAACT 0.617000 21 36 0 0 0.012319 0 0 FBXO24 26261 broad.mit.edu 37 7 100189321 100189321 + Silent SNP A A T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr7:100189321A>T ENST00000241071.6 + 4 676 c.354A>T c.(352-354)ggA>ggT p.G118G FBXO24_ENST00000468962.1_Silent_p.G106G|FBXO24_ENST00000427939.2_Silent_p.G156G|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000465843.1_Silent_p.G104G|FBXO24_ENST00000498195.1_3'UTR|FBXO24_ENST00000360609.2_Silent_p.G104G NM_033506.2 NP_277041.1 O75426 FBX24_HUMAN F-box protein 24 118 ubiquitin ligase complex ubiquitin-protein ligase activity NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2) 28 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) AGGCATTTGGAGGCCGCCGCC 0.577000 26 67 0 0 0.006320 0 0 RECK 8434 broad.mit.edu 37 9 36083538 36083538 + Missense_Mutation SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr9:36083538C>T ENST00000377966.3 + 8 1182 c.616C>T c.(616-618)Cca>Tca p.P206S RECK_ENST00000479053.1_3'UTR NM_021111.2 NP_066934.1 O95980 RECK_HUMAN reversion-inducing-cysteine-rich protein with kazal motifs 206 5 X Knot repeats. 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) TCAATCTTATCCAATGAGGAA 0.348000 6 14 0 0 0.001984 0 0 TSHZ1 10194 broad.mit.edu 37 18 72998240 72998240 + Missense_Mutation SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr18:72998240C>T ENST00000322038.5 + 2 1327 c.743C>T c.(742-744)tCc>tTc p.S248F TSHZ1_ENST00000580243.1_Missense_Mutation_p.S293F NM_005786.5 NP_005777.3 Q6ZSZ6 TSH1_HUMAN teashirt zinc finger homeobox 1 293 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2) 42 Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211) Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246) AGGAAGCGCTCCCTGATGGAG 0.572000 19 26 0 0 0.007413 0 0 CMYA5 202333 broad.mit.edu 37 5 79030721 79030721 + Missense_Mutation SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr5:79030721G>A ENST00000446378.2 + 2 6164 c.6133G>A c.(6133-6135)Gaa>Aaa p.E2045K NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 2045 perinuclear region of cytoplasm NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) ACTACCTCCTGAAAGATTCTT 0.438000 19 39 0 0 0.014323 0 0 ROCK2 9475 broad.mit.edu 37 2 11426678 11426678 + Missense_Mutation SNP C C A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr2:11426678C>A ENST00000315872.6 - 3 759 c.311G>T c.(310-312)gGt>gTt p.G104V ROCK2_ENST00000462366.1_5'UTR NM_004850.3 NP_004841.2 O75116 ROCK2_HUMAN Rho-associated, coiled-coil containing protein kinase 2 104 Protein kinase. axon guidance|cytokinesis|intracellular signal transduction cytosol|plasma membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2) 43 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162) CTGCACTTCACCAAAAGCACC 0.343000 20 59 5.49717e-05 0.000145428 0.003330 1 0 TTN 7273 broad.mit.edu 37 2 179457686 179457686 + Silent SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr2:179457686C>T ENST00000589042.1 - 300 59384 c.59160G>A c.(59158-59160)caG>caA p.Q19720Q TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.Q18079Q|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342175.6_Silent_p.Q10847Q|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.Q10655Q|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Silent_p.Q10780Q|TTN_ENST00000342992.6_Silent_p.Q17152Q|TTN-AS1_ENST00000589907.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 18079 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) CTCCAACTTTCTGGTACTCAA 0.448000 52 149 0 0 0.014410 0 0 FRG1B 284802 broad.mit.edu 37 20 29628261 29628261 + Missense_Mutation SNP T T C rs111331725 by1000genomes TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr20:29628261T>C ENST00000278882.3 + 6 643 c.263T>C c.(262-264)tTt>tCt p.F88S FRG1B_ENST00000358464.4_Missense_Mutation_p.F88S|FRG1B_ENST00000439954.2_Missense_Mutation_p.F93S endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 AATAGCTGCTTTATTAGATGC 0.363000 4 56 0 0 0.009096 0 0 ABCB4 5244 broad.mit.edu 37 7 87047888 87047888 + Missense_Mutation SNP T T A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr7:87047888T>A ENST00000265723.4 - 20 2554 c.2443A>T c.(2443-2445)Aca>Tca p.T815S ABCB4_ENST00000358400.3_Missense_Mutation_p.T815S|ABCB4_ENST00000545634.1_Missense_Mutation_p.T815S|ABCB4_ENST00000453593.1_Missense_Mutation_p.T815S|ABCB4_ENST00000359206.3_Missense_Mutation_p.T815S NM_000443.3|NM_018849.2 NP_000434.1|NP_061337.1 P21439 MDR3_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 4 815 ABC transmembrane type-1 2. cellular lipid metabolic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|xenobiotic-transporting ATPase activity breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) GCAAGTCTTGTAGAAAGTGCA 0.373000 18 44 0 0 0.008871 0 0 SEC14L5 9717 broad.mit.edu 37 16 5061172 5061172 + Missense_Mutation SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr16:5061172G>A ENST00000251170.7 + 15 2057 c.1877G>A c.(1876-1878)tGc>tAc p.C626Y RP11-165E7.1_ENST00000588778.1_RNA NM_014692.1 NP_055507.1 O43304 S14L5_HUMAN SEC14-like 5 (S. cerevisiae) 626 GOLD. integral to membrane|intracellular transporter activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1) 29 AGCGTGGCCTGCAGCCTCCCG 0.647000 5 5 0 0 0.001168 0 0 MBL2 4153 broad.mit.edu 37 10 54531368 54531368 + Missense_Mutation SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr10:54531368G>A ENST00000373968.3 - 1 92 c.28C>T c.(28-30)Ctt>Ttt p.L10F NM_000242.2 NP_000233.1 P11226 MBL2_HUMAN mannose-binding lectin (protein C) 2, soluble 10 acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress collagen|extracellular space bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 21 CTCAGGAGAAGGAGAGGGAGT 0.498000 3 8 0 0 0.004672 0 0 ANO4 121601 broad.mit.edu 37 12 101520699 101520699 + Missense_Mutation SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr12:101520699C>T ENST00000392979.3 + 26 2975 c.2614C>T c.(2614-2616)Cca>Tca p.P872S ANO4_ENST00000550015.1_Missense_Mutation_p.P427S|ANO4_ENST00000392977.3_Missense_Mutation_p.P907S|ANO4_ENST00000299222.9_Missense_Mutation_p.P427S NM_178826.3 NP_849148.2 Q32M45 ANO4_HUMAN anoctamin 4 907 chloride channel complex chloride channel activity NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1) 78 ATATCTGATCCCAGACCTCCC 0.443000 HNSCC(74;0.22) 5 26 0 0 0.000602 0 0 FAM19A2 338811 broad.mit.edu 37 12 62147424 62147424 + Silent SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr12:62147424C>T ENST00000416284.3 - 4 1947 c.363G>A c.(361-363)ggG>ggA p.G121G FAM19A2_ENST00000550003.1_Silent_p.G24G|FAM19A2_ENST00000551449.1_Intron|FAM19A2_ENST00000551619.1_Silent_p.G121G NM_178539.4 NP_848634.1 Q8N3H0 F19A2_HUMAN family with sequence similarity 19 (chemokine (C-C motif)-like), member A2 121 cytoplasm endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1) 15 GBM - Glioblastoma multiforme(1;0.00484) GBM - Glioblastoma multiforme(3;0.02) TGACTTTATTCCCAGAGGAAC 0.433000 14 36 0 0 0.004007 0 0 KCNK2 3776 broad.mit.edu 37 1 215298016 215298016 + Missense_Mutation SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr1:215298016G>A ENST00000444842.2 + 3 548 c.398G>A c.(397-399)gGa>gAa p.G133E KCNK2_ENST00000391894.2_Missense_Mutation_p.G118E|KCNK2_ENST00000391895.2_Missense_Mutation_p.G129E NM_001017425.2|NM_014217.3 NP_001017425.2|NP_055032.1 O95069 KCNK2_HUMAN potassium channel, subfamily K, member 2 133 outward rectifier potassium channel activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068) Dofetilide(DB00204) ATACCGTTAGGAAACACCTCC 0.383000 28 70 0 0 0.005443 0 0 ZNF280A 129025 broad.mit.edu 37 22 22869886 22869886 + Silent SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr22:22869886C>T ENST00000302097.3 - 2 321 c.69G>A c.(67-69)agG>agA p.R23R NM_080740.3 NP_542778.1 P59817 Z280A_HUMAN zinc finger protein 280A 23 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 18 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22) READ - Rectum adenocarcinoma(21;0.145) CATCCTCCTCCCTTTGTTTGG 0.383000 15 63 0 0 0.004007 0 0 EPPK1 83481 broad.mit.edu 37 8 144943375 144943375 + Silent SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr8:144943375C>T ENST00000525985.1 - 2 4118 c.4047G>A c.(4045-4047)caG>caA p.Q1349Q P58107 EPIPL_HUMAN epiplakin 1 1349 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) AGCCCTCGTTCTGTGGCACGA 0.701000 7 38 0 0 0.001984 0 0 GPM6A 2823 broad.mit.edu 37 4 176594872 176594872 + Missense_Mutation SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr4:176594872C>T ENST00000280187.7 - 4 391 c.346G>A c.(346-348)Gat>Aat p.D116N GPM6A_ENST00000393658.2_Missense_Mutation_p.D116N|GPM6A_ENST00000515090.1_Missense_Mutation_p.D109N|GPM6A_ENST00000506894.1_Missense_Mutation_p.D105N NM_005277.4 NP_005268.1 P51674 GPM6A_HUMAN glycoprotein M6A 116 cell surface|integral to membrane NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 33 Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388) ATTTTGAAATCCCCATAGAGA 0.438000 6 20 0 0 0.001984 0 0 ZNF232 7775 broad.mit.edu 37 17 5009481 5009481 + Missense_Mutation SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr17:5009481G>A ENST00000250076.3 - 5 1627 c.973C>T c.(973-975)Cat>Tat p.H325Y ZNF232_ENST00000416429.2_3'UTR|ZNF232_ENST00000575898.1_Missense_Mutation_p.H316Y NM_014519.2 NP_055334.2 Q9UNY5 ZN232_HUMAN zinc finger protein 232 298 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2) 11 TCTCCAGAATGAACTCTCTGG 0.413000 28 70 0 0 0.006320 0 0 WWC1 23286 broad.mit.edu 37 5 167882460 167882460 + Nonsense_Mutation SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr5:167882460C>T ENST00000265293.4 + 19 3260 c.2758C>T c.(2758-2760)Cga>Tga p.R920* WWC1_ENST00000522140.1_3'UTR|WWC1_ENST00000521089.1_Nonsense_Mutation_p.R920* NM_001161661.1|NM_001161662.1|NM_015238.2 NP_001155133.1|NP_001155134.1|NP_056053.1 Q8IX03 KIBRA_HUMAN WW and C2 domain containing 1 920 Interaction with histone H3. cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perinuclear region of cytoplasm|ruffle membrane protein binding|transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4) 43 Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0399)|all_neural(177;0.0577) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918) GCCATTTCTTCGAGGGAGCAC 0.642000 33 91 0 0 0.003271 0 0 HAVCR1 26762 broad.mit.edu 37 5 156469681 156469681 + Missense_Mutation SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr5:156469681G>A ENST00000339252.3 - 5 1326 c.794C>T c.(793-795)aCc>aTc p.T265I HAVCR1_ENST00000544197.1_Missense_Mutation_p.T265I|HAVCR1_ENST00000425854.1_Missense_Mutation_p.T265I|HAVCR1_ENST00000523175.1_Missense_Mutation_p.T265I|HAVCR1_ENST00000517644.1_5'UTR|HAVCR1_ENST00000522693.1_Missense_Mutation_p.T265I NM_012206.2 NP_036338.2 Q96D42 HAVR1_HUMAN hepatitis A virus cellular receptor 1 260 interspecies interaction between organisms integral to membrane receptor activity endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.0999) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CTCTGTCACGGTGTCATTCCC 0.353000 67 239 0 0 0.014410 0 0 TTN 7273 broad.mit.edu 37 2 179396030 179396030 + Missense_Mutation SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr2:179396030C>T ENST00000589042.1 - 358 105536 c.105312G>A c.(105310-105312)atG>atA p.M35104I TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.M33463I|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.M26231I|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.M26039I|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.M26164I|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.M32536I NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 33463 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) CAGCACTTTTCATTTCTGCAG 0.438000 31 89 0 0 0.007291 0 0 FSD1 79187 broad.mit.edu 37 19 4318373 4318373 + Missense_Mutation SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr19:4318373C>T ENST00000221856.6 + 9 977 c.830C>T c.(829-831)tCc>tTc p.S277F FSD1_ENST00000598010.1_Intron|FSD1_ENST00000597590.1_Missense_Mutation_p.S277F NM_024333.2 NP_077309.1 Q9BTV5 FSD1_HUMAN fibronectin type III and SPRY domain containing 1 277 B30.2/SPRY. cell division|mitosis cleavage furrow|microtubule|microtubule organizing center|nucleus breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 21 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18) GCGTCCACATCCCACCAGAAC 0.612000 9 30 0 0 0.006214 0 0 HECW1 23072 broad.mit.edu 37 7 43594324 43594324 + Silent SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr7:43594324C>T ENST00000395891.1 + 29 5249 c.4644C>T c.(4642-4644)ctC>ctT p.L1548L HECW1_ENST00000453890.1_Silent_p.L1514L NM_015052.3 NP_055867.3 Q76N89 HECW1_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 1548 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3) 125 TCGCAGCCCTCCGTGGGAGCA 0.572000 10 27 0 0 0.013537 0 0 MECOM 2122 broad.mit.edu 37 3 169099072 169099072 + Missense_Mutation SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr3:169099072C>T ENST00000494292.1 - 2 375 c.278G>A c.(277-279)gGa>gAa p.G93E MECOM_ENST00000485957.1_5'UTR NM_004991.3 NP_004982.2 Q13465 MDS1_HUMAN MDS1 and EVI1 complex locus 93 sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 GGTCCATATTCCTAGTCCTGC 0.483000 24 72 0 0 0.002780 0 0 PLXNB2 23654 broad.mit.edu 37 22 50722087 50722087 + Silent SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr22:50722087G>A ENST00000449103.1 - 15 2654 c.2514C>T c.(2512-2514)atC>atT p.I838I PLXNB2_ENST00000359337.4_Silent_p.I838I|PLXNB2_ENST00000496720.1_5'UTR O15031 PLXB2_HUMAN plexin B2 838 IPT/TIG 1. regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) CGGCCACAGAGATCCTCTGGA 0.642000 5 17 0 0 0.000602 0 0 TSIX 9383 broad.mit.edu 37 X 73044503 73044503 + RNA SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chrX:73044503C>T ENST00000604411.1 + 0 32464 XIST_ENST00000429829.1_lincRNA NR_003255.2 TCAAATTTTTCATTTACAAGT 0.333000 8 14 0 0 0.003080 0 0 APOB 338 broad.mit.edu 37 2 21235442 21235442 + Missense_Mutation SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr2:21235442G>A ENST00000233242.1 - 26 4425 c.4298C>T c.(4297-4299)tCg>tTg p.S1433L NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 1433 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity p.S1433L(1) NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TTTGATATTCGAATCTAGAAA 0.368000 112 379 0 0 0.014410 0 0 OGDH 4967 broad.mit.edu 37 7 44746846 44746846 + Silent SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr7:44746846C>T ENST00000222673.5 + 21 2697 c.2655C>T c.(2653-2655)atC>atT p.I885I OGDH_ENST00000439616.2_Silent_p.I735I|OGDH_ENST00000447398.1_Silent_p.I896I|OGDH_ENST00000444676.1_Silent_p.I900I|OGDH_ENST00000449767.1_Silent_p.I881I|OGDH_ENST00000543843.1_Silent_p.I836I NM_002541.3 NP_002532.2 Q02218 ODO1_HUMAN oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) 885 glycolysis|lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|mitochondrial membrane oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 36 NADH(DB00157) AGCGGGTGATCCCAGAAGATG 0.562000 16 39 0 0 0.007413 0 0 SCNN1B 6338 broad.mit.edu 37 16 23364127 23364127 + Missense_Mutation SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr16:23364127C>T ENST00000343070.2 + 3 493 c.317C>T c.(316-318)tCc>tTc p.S106F SCNN1B_ENST00000568085.1_Missense_Mutation_p.S106F|SCNN1B_ENST00000307331.5_Missense_Mutation_p.S151F|SCNN1B_ENST00000568923.1_Missense_Mutation_p.S106F|SCNN1B_ENST00000569789.1_3'UTR NM_000336.2 NP_000327.2 P51168 SCNNB_HUMAN sodium channel, non-voltage-gated 1, beta subunit 106 excretion|sensory perception of taste apical plasma membrane ligand-gated sodium channel activity|WW domain binding breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 32 GBM - Glioblastoma multiforme(48;0.0465) Amiloride(DB00594)|Triamterene(DB00384) TCCAGGTATTCCAAAATCAAG 0.498000 20 36 0 0 0.014323 0 0 ATG9B 285973 broad.mit.edu 37 7 150715841 150715841 + Silent SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr7:150715841G>A ENST00000605938.1 - 6 1659 c.1584C>T c.(1582-1584)gcC>gcT p.A528A ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000377974.2_Silent_p.A528A|ATG9B_ENST00000444312.1_Intron NM_173681.5 NP_775952.4 Q674R7 ATG9B_HUMAN autophagy related 9B 528 autophagic vacuole assembly autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1) 14 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CGAGCTGGCGGGCCAGCAGCG 0.746000 4 8 0 0 0.000602 0 0 FAM83A 84985 broad.mit.edu 37 8 124206317 124206317 + Silent SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr8:124206317G>A ENST00000518448.1 + 4 2716 c.702G>A c.(700-702)agG>agA p.R234R FAM83A_ENST00000318462.6_Silent_p.R234R|FAM83A_ENST00000536633.1_Silent_p.R234R|FAM83A_ENST00000546351.1_Silent_p.R178R|FAM83A_ENST00000276699.6_Silent_p.R234R|FAM83A_ENST00000522648.1_Silent_p.R178R Q86UY5 FA83A_HUMAN family with sequence similarity 83, member A 234 breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1) 17 Lung NSC(37;1.55e-09)|Ovarian(258;0.0205) STAD - Stomach adenocarcinoma(47;0.00527) AGTCAGGCAGGAAATTCGCTG 0.473000 14 59 0 0 0.002450 0 0 BSPRY 54836 broad.mit.edu 37 9 116131915 116131915 + Silent SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr9:116131915C>T ENST00000374183.4 + 6 741 c.702C>T c.(700-702)atC>atT p.I234I BSPRY_ENST00000462085.1_3'UTR NM_017688.2 NP_060158.2 Q5W0U4 BSPRY_HUMAN B-box and SPRY domain containing 234 B30.2/SPRY. calcium ion transport cytoplasm|membrane zinc ion binding breast(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1) 8 ACATACGGATCGATGAGAGGA 0.562000 17 44 0 0 0.012319 0 0 S100A10 6281 broad.mit.edu 37 1 151958578 151958578 + Silent SNP C C T rs151104998 TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr1:151958578C>T ENST00000368811.3 - 2 788 c.129G>A c.(127-129)ttG>ttA p.L43L S100A10_ENST00000478574.1_5'UTR|S100A10_ENST00000368809.1_Silent_p.L43L NM_002966.2 NP_002957.1 P60903 S10AA_HUMAN S100 calcium binding protein A10 43 signal transduction calcium ion binding|receptor binding breast(1)|kidney(1)|lung(2)|ovary(2) 6 Melanoma(130;0.0648)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) CACTTACTTCCAAAAATCCAG 0.413000 12 88 0 0 0.002450 0 0 RAPGEF1 2889 broad.mit.edu 37 9 134473699 134473699 + Splice_Site SNP T T A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr9:134473699T>A ENST00000372195.1 - 13 2238 c.e13-2 RAPGEF1_ENST00000372190.3_Splice_Site|RAPGEF1_ENST00000372189.3_Splice_Site Q13905 RPGF1_HUMAN Rap guanine nucleotide exchange factor (GEF) 1 activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|endosome guanyl-nucleotide exchange factor activity|SH3 domain binding NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1) 39 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364) TTTGGGGCCCTGCGGGGAGAA 0.602000 3 14 0 0 0.004672 0 0 GPR20 2843 broad.mit.edu 37 8 142367222 142367222 + Missense_Mutation SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr8:142367222G>A ENST00000377741.3 - 2 892 c.802C>T c.(802-804)Ccc>Tcc p.P268S NM_005293.2 NP_005284.2 Q99678 GPR20_HUMAN G protein-coupled receptor 20 268 integral to plasma membrane G-protein coupled receptor activity NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 15 all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0415) GGCATGTCGGGCCACAGCGCC 0.652000 33 20 0 0 0.012213 0 0 CYP4F12 66002 broad.mit.edu 37 19 15794562 15794562 + Silent SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr19:15794562C>T ENST00000550308.1 + 7 1287 c.907C>T c.(907-909)Ctg>Ttg p.L303L CYP4F12_ENST00000324632.9_Silent_p.L303L NM_023944.3 NP_076433.3 cytochrome P450, family 4, subfamily F, polypeptide 12 NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 Acute lymphoblastic leukemia(2;0.0367) TGATGTGCTTCTGCTGAGCAA 0.438000 25 86 0 0 0.006320 0 0 CA4 762 broad.mit.edu 37 17 58235079 58235079 + Missense_Mutation SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr17:58235079G>A ENST00000300900.4 + 5 542 c.443G>A c.(442-444)gGg>gAg p.G148E NM_000717.3 NP_000708.1 P22748 CAH4_HUMAN carbonic anhydrase IV 148 bicarbonate transport|one-carbon metabolic process anchored to external side of plasma membrane|apical plasma membrane|brush border membrane|ER-Golgi intermediate compartment|membrane fraction|perinuclear region of cytoplasm|rough endoplasmic reticulum|secretory granule membrane|trans-Golgi network|transport vesicle membrane carbonate dehydratase activity|protein binding|zinc ion binding kidney(1)|large_intestine(2)|lung(5)|ovary(1) 9 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;3.83e-12)|all cancers(12;6.83e-11) Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021) AAAGAGAAGGGGACATCGAGG 0.587000 12 58 0 0 0.013537 0 0 SPATA31D1 389763 broad.mit.edu 37 9 84606832 84606832 + Missense_Mutation SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr9:84606832C>T ENST00000344803.2 + 4 1494 c.1447C>T c.(1447-1449)Cat>Tat p.H483Y NM_001001670.2 NP_001001670.1 SPATA31 subfamily D, member 1 GCAGCACATCCATCAGCAGCC 0.453000 4 40 0 0 0.000602 0 0 MYOM2 9172 broad.mit.edu 37 8 2048769 2048769 + Silent SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr8:2048769C>T ENST00000262113.4 + 20 2685 c.2544C>T c.(2542-2544)ttC>ttT p.F848F MYOM2_ENST00000523438.1_Silent_p.F273F NM_003970.2 NP_003961.2 P54296 MYOM2_HUMAN myomesin 2 848 Fibronectin type-III 5. muscle contraction myosin filament structural constituent of muscle autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3) 104 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) CTGGATATTTCGTGGACTTCA 0.542000 9 25 0 0 0.006214 0 0 RELN 5649 broad.mit.edu 37 7 103292135 103292135 + Missense_Mutation SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr7:103292135G>A ENST00000424685.2 - 15 2024 c.1865C>T c.(1864-1866)aCt>aTt p.T622I RELN_ENST00000343529.5_Missense_Mutation_p.T622I|RELN_ENST00000428762.1_Missense_Mutation_p.T622I P78509 RELN_HUMAN reelin 622 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) GGAGTAGACAGTGCTGTGGGG 0.463000 34 44 0 0 0.004878 0 0 TRPC6 7225 broad.mit.edu 37 11 101347111 101347111 + Silent SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr11:101347111C>T ENST00000344327.3 - 6 2089 c.1665G>A c.(1663-1665)caG>caA p.Q555Q TRPC6_ENST00000348423.4_Silent_p.Q439Q|TRPC6_ENST00000532133.1_Intron|TRPC6_ENST00000360497.4_Silent_p.Q500Q NM_004621.5 NP_004612.2 Q9Y210 TRPC6_HUMAN transient receptor potential cation channel, subfamily C, member 6 555 axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) CAATGATGCTCTGGGCTTTGG 0.393000 6 30 0 0 0.001168 0 0 PTPRH 5794 broad.mit.edu 37 19 55716753 55716753 + Missense_Mutation SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr19:55716753G>A ENST00000376350.3 - 4 582 c.560C>T c.(559-561)tCc>tTc p.S187F PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Intron NM_002842.3 NP_002833.3 Q9HD43 PTPRH_HUMAN protein tyrosine phosphatase, receptor type, H 187 Fibronectin type-III 2. apoptosis cytoplasm|integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 67 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0479) CACCCACATGGAAAACGCATA 0.507000 26 81 0 0 0.004656 0 0 PLCG1 5335 broad.mit.edu 37 20 39792045 39792045 + Missense_Mutation SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr20:39792045G>A ENST00000373272.2 + 9 1222 c.817G>A c.(817-819)Gtg>Atg p.V273M PLCG1_ENST00000373271.1_Missense_Mutation_p.V273M|PLCG1_ENST00000244007.3_Missense_Mutation_p.V273M NM_002660.2 NP_002651.2 P19174 PLCG1_HUMAN phospholipase C, gamma 1 273 activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway cytosol|lamellipodium|plasma membrane|ruffle calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2) 46 Myeloproliferative disorder(115;0.00878) TCGCCTCCAGGTGCAGGAGTT 0.582000 14 48 0 0 0.004007 0 0 HFM1 164045 broad.mit.edu 37 1 91816303 91816303 + Missense_Mutation SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr1:91816303G>A ENST00000370425.3 - 18 2296 c.2198C>T c.(2197-2199)tCt>tTt p.S733F HFM1_ENST00000462405.1_Intron|HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_Missense_Mutation_p.S412F NM_001017975.3 NP_001017975.3 A2PYH4 HFM1_HUMAN HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) 733 ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 75 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) ACCATAATGAGATGGATTTTT 0.348000 9 20 0 0 0.004482 0 0 TRIM62 55223 broad.mit.edu 37 1 33625297 33625297 + Silent SNP C C G TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr1:33625297C>G ENST00000291416.5 - 3 986 c.753G>C c.(751-753)ctG>ctC p.L251L TRIM62_ENST00000543586.1_Silent_p.L130L|TRIM62_ENST00000485148.1_5'UTR NM_018207.2 NP_060677.2 Q9BVG3 TRI62_HUMAN tripartite motif containing 62 251 intracellular zinc ion binding endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 Myeloproliferative disorder(586;0.0393) ACCGCTCGGACAGTGAGGCCA 0.682000 6 21 0 0 0.001168 0 0 BTBD16 118663 broad.mit.edu 37 10 124043405 124043405 + Silent SNP T T C TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr10:124043405T>C ENST00000368994.2 + 4 461 c.210T>C c.(208-210)aaT>aaC p.N70N BTBD16_ENST00000260723.4_Silent_p.N69N Q32M84 BTBDG_HUMAN BTB (POZ) domain containing 16 69 breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1) 15 all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238) TCTTTGAGAATTTCAAGAACA 0.378000 4 10 0 0 0.001168 0 0 ZNF716 441234 broad.mit.edu 37 7 57510015 57510015 + Silent SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr7:57510015C>T ENST00000420713.1 + 1 133 c.21C>T c.(19-21)ccC>ccT p.P7P NM_001159279.1 NP_001152751.1 zinc finger protein 716 breast(1)|kidney(1)|lung(20)|ovary(2) 24 GACCGGGACCCCCTGGAAGCC 0.567000 19 24 0 0 0.003954 0 0 FZD1 8321 broad.mit.edu 37 7 90895683 90895683 + Silent SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr7:90895683C>T ENST00000287934.2 + 1 1901 c.1488C>T c.(1486-1488)ttC>ttT p.F496F NM_003505.1 NP_003496.1 Q9UP38 FZD1_HUMAN frizzled family receptor 1 496 autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215) STAD - Stomach adenocarcinoma(171;0.0134) CGCCCCTCTTCGTGTACCTGT 0.622000 46 120 0 0 0.014410 0 0 TCN2 6948 broad.mit.edu 37 22 31011344 31011344 + Missense_Mutation SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr22:31011344C>T ENST00000215838.3 + 5 1131 c.637C>T c.(637-639)Cct>Tct p.P213S TCN2_ENST00000405742.3_Missense_Mutation_p.P209S|TCN2_ENST00000407817.3_Missense_Mutation_p.P186S P20062 TCO2_HUMAN transcobalamin II 213 cobalamin metabolic process|cobalamin transport|cobalt ion transport extracellular space cobalamin binding central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1) 22 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) AAACTTCAACCCTGGTCGGAG 0.557000 14 47 0 0 0.002450 0 0 CNGA2 1260 broad.mit.edu 37 X 150911705 150911705 + Missense_Mutation SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chrX:150911705G>A ENST00000329903.4 + 6 763 c.730G>A c.(730-732)Gag>Aag p.E244K NM_005140.1 NP_005131.1 Q16280 CNGA2_HUMAN cyclic nucleotide gated channel alpha 2 244 response to stimulus|sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2) 49 Acute lymphoblastic leukemia(192;6.56e-05) CCACAGCCCTGAGGTGCGCTT 0.532000 28 57 0 0 0.006320 0 0 CFB 629 broad.mit.edu 37 6 31896656 31896656 + Missense_Mutation SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr6:31896656G>A ENST00000477310.1 + 3 433 c.404G>A c.(403-405)gGc>gAc p.G135D C2_ENST00000469372.1_Intron|C2_ENST00000442278.2_Intron|CFB_ENST00000456570.1_Intron|C2_ENST00000418949.2_Missense_Mutation_p.G135D|CFB_ENST00000556679.1_Intron|C2_ENST00000299367.5_Missense_Mutation_p.G135D|C2_ENST00000452323.2_Intron P00751 CFAB_HUMAN complement factor B 149 Sushi 2. complement activation, alternative pathway|proteolysis extracellular region|plasma membrane complement binding|serine-type endopeptidase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1) 21 CGCCCCAACGGCATGTGGGAT 0.622000 70 223 0 0 0.014410 0 0 QRICH2 84074 broad.mit.edu 37 17 74273322 74273322 + Silent SNP G G T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr17:74273322G>T ENST00000262765.5 - 16 4868 c.4689C>A c.(4687-4689)acC>acA p.T1563T NM_032134.1 NP_115510.1 Q9H0J4 QRIC2_HUMAN glutamine rich 2 1563 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4) 62 GGTAGGGGTAGGTGAGGGTGT 0.612000 24 111 4.43304e-23 1.19489e-22 0.006320 1 0 GTF3C2 2976 broad.mit.edu 37 2 27552143 27552143 + Silent SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr2:27552143G>A ENST00000359541.2 - 14 2313 c.1884C>T c.(1882-1884)ttC>ttT p.F628F GTF3C2_ENST00000264720.3_Silent_p.F628F Q8WUA4 TF3C2_HUMAN general transcription factor IIIC, polypeptide 2, beta 110kDa 628 transcription factor TFIIIC complex central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2) 38 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CAGAGACAAGGAAATGGCTGT 0.488000 83 224 0 0 0.014410 0 0 KIAA1199 57214 broad.mit.edu 37 15 81212554 81212554 + Silent SNP C C T TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr15:81212554C>T ENST00000394685.3 + 15 2336 c.1917C>T c.(1915-1917)ctC>ctT p.L639L RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000220244.3_Silent_p.L639L|KIAA1199_ENST00000356249.5_Silent_p.L639L Q8WUJ3 K1199_HUMAN KIAA1199 639 breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 GAACCCTCCTCCCCTCGGACC 0.557000 8 39 0 0 0.006214 0 0 KIAA1429 25962 broad.mit.edu 37 8 95508607 95508607 + Missense_Mutation SNP G G C TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr8:95508607G>C ENST00000297591.5 - 18 4407 c.4332C>G c.(4330-4332)agC>agG p.S1444R KIAA1429_ENST00000437199.1_3'UTR NM_015496.4 NP_056311.2 Q69YN4 VIR_HUMAN KIAA1429 1444 mRNA processing|RNA splicing nucleus NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) TTTCTTCTTTGCTTTGTAGAA 0.388000 11 35 0 0 0.010729 0 0 TNR 7143 broad.mit.edu 37 1 175334205 175334205 + Missense_Mutation SNP T T C TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr1:175334205T>C ENST00000367674.1 - 12 3236 c.2528A>G c.(2527-2529)aAc>aGc p.N843S TNR_ENST00000263525.2_Missense_Mutation_p.N843S NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 843 Fibronectin type-III 6. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) AGCCACAAGGTTCACAATATA 0.567000 20 63 0 0 0.008871 0 0 RAB11FIP5 26056 broad.mit.edu 37 2 73316089 73316092 + Frame_Shift_Del DEL GCTG GCTG - TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr2:73316089_73316092delGCTG ENST00000258098.6 - 2 1023_1026 c.783_786delCAGC c.(781-786)gcfs p.AS261fs RAB11FIP5_ENST00000493523.2_5'UTR NM_015470.2 NP_056285.1 Q9BXF6 RFIP5_HUMAN RAB11 family interacting protein 5 (class I) 261 protein transport mitochondrial outer membrane|recycling endosome membrane gamma-tubulin binding biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 23 CCAAGCTCCCGCTGGCTGAGGACA 0.647 8 37 --- --- --- --- SLC35F5 80255 broad.mit.edu 37 2 114500277 114500277 + Frame_Shift_Del DEL A A - TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr2:114500277delA ENST00000245680.2 - 7 1155 c.742delT c.(742-744)gcfs p.C248fs SLC35F5_ENST00000409342.1_Frame_Shift_Del_p.C242fs NM_025181.2 NP_079457.2 Q8WV83 S35F5_HUMAN solute carrier family 35, member F5 248 transport integral to membrane p.C248fs*22(2)|p.?(1) endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1) 20 ACCACAAAGCAAAAAAAAAAG 0.343 8 87 --- --- --- --- DPY19L2P2 349152 broad.mit.edu 37 7 102883498 102883498 + RNA DEL A A - TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr7:102883498delA ENST00000312132.4 - 0 2616 GTACCACTGTAAAAAAAAAAA 0.284 6 12 --- --- --- --- TRBV7-1 28597 broad.mit.edu 37 7 142032162 142032163 + RNA DEL GA GA - TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr7:142032162_142032163delGA ENST00000547918.2 + 0 82 atgtgtgtgtgAGAGAGAGAGA 0.505 2 4 --- --- --- --- ABCA1 19 broad.mit.edu 37 9 107602665 107602666 + Frame_Shift_Ins INS - - C rs2246841 byFrequency TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr9:107602665_107602666insC ENST00000374736.3 - 9 1342_1343 c.948_949insG c.(946-951)ggtgaafs p.E317fs NM_005502.3 NP_005493.2 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A (ABC1), member 1 317 Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 115 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) TTGATCTTCAGCCCCCCTCCCT 0.515 8 37 --- --- --- --- TFAM 7019 broad.mit.edu 37 10 60148570 60148570 + Frame_Shift_Del DEL A A - rs78912196 TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr10:60148570delA ENST00000487519.1 + 4 958 c.432delA c.(430-432)acfs p.T144fs TFAM_ENST00000373895.3_Frame_Shift_Del_p.T144fs|TFAM_ENST00000373899.3_3'UTR NM_003201.1 NP_003192.1 Q00059 TFAM_HUMAN transcription factor A, mitochondrial 144 DNA-dependent DNA replication|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase I promoter|transcription initiation from mitochondrial promoter mitochondrial nucleoid mitochondrial light strand promoter sense binding|protein binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(1)|lung(4)|prostate(1) 7 AAGCTATGACAAAAAAAAAAG 0.269 8 62 --- --- --- --- POLA2 23649 broad.mit.edu 37 11 65057338 65057340 + In_Frame_Del DEL AAG AAG - TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr11:65057338_65057340delAAG ENST00000265465.3 + 13 1770_1772 c.1239_1241delAAG c.(1237-1242)aca>ac p.TR413del POLA2_ENST00000541089.1_In_Frame_Del_p.TR205del NM_002689.2 NP_002680.2 Q14181 DPOA2_HUMAN polymerase (DNA directed), alpha 2, accessory subunit 413 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|telomere maintenance via recombination|telomere maintenance via semi-conservative replication nucleoplasm DNA binding endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1) 11 Dacarbazine(DB00851) TTGAAGGCACAAGAAGGTCAGAT 0.404 5 7 --- --- --- --- CLEC16A 23274 broad.mit.edu 37 16 11272268 11272269 + Frame_Shift_Del DEL CT CT - TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr16:11272268_11272269delCT ENST00000409790.1 + 24 3113_3114 c.2883_2884delCT c.(2881-2886)gactfs p.DS961fs CLEC16A_ENST00000381822.2_Frame_Shift_Del_p.DS48fs NM_015226.2 NP_056041.1 Q2KHT3 CL16A_HUMAN C-type lectin domain family 16, member A 961 p.0?(1) breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 CGGAAGCAGACTCTAAGCCCAG 0.604 29 56 --- --- --- --- CASC3 22794 broad.mit.edu 37 17 38324121 38324121 + Frame_Shift_Del DEL T T - TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5d11fd9e-86e8-4e08-96cb-9ca66a7fa283 4ac9b47d-a5ec-4d70-aafe-e556cbd8322c g.chr17:38324121delT ENST00000264645.7 + 10 1896 c.1670delT c.(1669-1671)acfs p.I557fs NM_007359.4 NP_031385.2 O15234 CASC3_HUMAN cancer susceptibility candidate 3 557 Necessary for localization in cytoplasmic stress granules. mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm identical protein binding|RNA binding|ubiquitin protein ligase binding endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2) 16 CAGGGACCAATCTATACCCAT 0.517 27 132 --- --- --- ---