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 VIPR2 7434 broad.mit.edu 37 7 158935195 158935195 + Nonsense_Mutation SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr7:158935195G>A ENST00000262178.2 - 2 279 c.94C>T c.(94-96)Cag>Tag p.Q32* VIPR2_ENST00000402066.1_Nonsense_Mutation_p.Q173*|VIPR2_ENST00000421760.2_Nonsense_Mutation_p.Q32* NM_003382.4 NP_003373.2 P41587 VIPR2_HUMAN vasoactive intestinal peptide receptor 2 32 cell-cell signaling integral to plasma membrane central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1) 22 Ovarian(565;0.152) all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603) OV - Ovarian serous cystadenocarcinoma(82;0.00231) UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18) TCTTCCTCCTGTATTTCCAGA 0.398000 23 99 0 0 1 0 0 MYO18B 84700 broad.mit.edu 37 22 26193971 26193971 + Missense_Mutation SNP A A G TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr22:26193971A>G ENST00000335473.7 + 12 2678 c.2428A>G c.(2428-2430)Atg>Gtg p.M810V MYO18B_ENST00000407587.2_Missense_Mutation_p.M810V|MYO18B_ENST00000536101.1_Missense_Mutation_p.M810V NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 810 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 CCAGGGTGCCATGGAGATGCT 0.617000 6 128 0 0 1 0 0 MRPL23 6150 broad.mit.edu 37 11 1977518 1977518 + Silent SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr11:1977518G>A ENST00000397298.3 + 5 415 c.330G>A c.(328-330)ctG>ctA p.L110L MRPL23_ENST00000381519.1_Silent_p.L110L|MRPL23_ENST00000381514.3_Intron|MRPL23_ENST00000397297.3_Intron|MRPL23_ENST00000397294.3_Intron NM_021134.3 NP_066957.3 Q16540 RM23_HUMAN mitochondrial ribosomal protein L23 110 translation mitochondrial large ribosomal subunit nucleotide binding|RNA binding|structural constituent of ribosome large_intestine(2)|lung(1)|ovary(1) 4 all_epithelial(84;6.24e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.0026)|Lung(200;0.0171)|LUSC - Lung squamous cell carcinoma(625;0.0842) TCCCAGATCTGTTTCCCGAGA 0.622000 24 167 0 0 1 0 0 DOCK11 139818 broad.mit.edu 37 X 117814457 117814457 + Missense_Mutation SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chrX:117814457G>A ENST00000276204.6 + 49 5547 c.5473G>A c.(5473-5475)Gag>Aag p.E1825K DOCK11_ENST00000276202.7_Missense_Mutation_p.E1825K Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 1825 DHR-2. blood coagulation cytosol GTP binding breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 84 AAATGCCAAAGAGCTTGATCC 0.289000 13 66 0 0 1 0 0 P4HB 5034 broad.mit.edu 37 17 79803505 79803505 + Missense_Mutation SNP C C G TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr17:79803505C>G ENST00000331483.4 - 9 1513 c.1291G>C c.(1291-1293)Gag>Cag p.E431Q P4HB_ENST00000439918.2_Missense_Mutation_p.E387Q|P4HB_ENST00000576390.1_Intron NM_000918.3 NP_000909.2 P07237 PDIA1_HUMAN prolyl 4-hydroxylase, beta polypeptide 431 Thioredoxin 2. cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1) 22 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509) GCCTCCACCTCGTTGGCAGTC 0.582000 4 25 0 0 1 0 0 CTD-2066L21.3 0 broad.mit.edu 37 5 33162692 33162692 + RNA SNP A A T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr5:33162692A>T ENST00000510327.1 - 0 346 GGAAGAAGAGATTTTAAACAA 0.473000 4 18 0 0 1 0 0 PLCG2 5336 broad.mit.edu 37 16 81888168 81888168 + Missense_Mutation SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr16:81888168G>A ENST00000359376.3 + 3 527 c.313G>A c.(313-315)Gtc>Atc p.V105I PLCG2_ENST00000565400.1_3'UTR NM_002661.3 NP_002652.2 P16885 PLCG2_HUMAN phospholipase C, gamma 2 (phosphatidylinositol-specific) 105 PH. intracellular signal transduction|phospholipid catabolic process|platelet activation plasma membrane phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 58 CACTCAGTTCGTCCTCAGCAC 0.498000 35 121 0 0 1 0 0 ANO4 121601 broad.mit.edu 37 12 101333128 101333128 + Missense_Mutation SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr12:101333128G>A ENST00000392979.3 + 3 452 c.91G>A c.(91-93)Gaa>Aaa p.E31K ANO4_ENST00000392977.3_Missense_Mutation_p.E66K|ANO4_ENST00000538618.1_Missense_Mutation_p.E232K|ANO4_ENST00000299222.9_5'UTR NM_178826.3 NP_849148.2 Q32M45 ANO4_HUMAN anoctamin 4 66 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 TGATGAATTAGAAGCTGTCAG 0.413000 HNSCC(74;0.22) 26 74 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228473945 228473945 + Silent SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr1:228473945C>T ENST00000570156.2 + 39 10532 c.10458C>T c.(10456-10458)ccC>ccT p.P3486P OBSCN_ENST00000422127.1_Silent_p.P3057P|OBSCN_ENST00000366707.4_Silent_p.P176P|OBSCN_ENST00000284548.11_Silent_p.P3057P|OBSCN_ENST00000359599.6_Silent_p.P1904P|OBSCN_ENST00000366709.4_Silent_p.P176P NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 2519 Ig-like 35. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) ATGCCCAGCCCGGGGGCTACC 0.667000 6 26 0 0 1 0 0 LONRF2 164832 broad.mit.edu 37 2 100903457 100903457 + Missense_Mutation SNP C C G TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr2:100903457C>G ENST00000393437.3 - 11 2628 c.1989G>C c.(1987-1989)tgG>tgC p.W663C LONRF2_ENST00000409647.1_Missense_Mutation_p.W420C NM_198461.3 NP_940863.3 Q1L5Z9 LONF2_HUMAN LON peptidase N-terminal domain and ring finger 2 663 Lon. proteolysis ATP-dependent peptidase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 34 GAGACGCGAACCAGGAAACAG 0.498000 10 67 0 0 1 0 0 LIN54 132660 broad.mit.edu 37 4 83905979 83905979 + Missense_Mutation SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr4:83905979C>T ENST00000340417.3 - 2 396 c.19G>A c.(19-21)Gag>Aag p.E7K LIN54_ENST00000505397.1_Missense_Mutation_p.E7K|LIN54_ENST00000442461.2_Missense_Mutation_p.E7K|LIN54_ENST00000506560.1_Missense_Mutation_p.E7K|LIN54_ENST00000395282.2_Missense_Mutation_p.E7K|LIN54_ENST00000510557.1_Missense_Mutation_p.E7K|LIN54_ENST00000446851.2_Missense_Mutation_p.E7K|LIN54_ENST00000395283.2_Missense_Mutation_p.E7K NM_194282.2 NP_919258.2 Q6MZP7 LIN54_HUMAN lin-54 homolog (C. elegans) 7 cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5) 14 Hepatocellular(203;0.114) CTATTCACCTCAGCTGGCACC 0.393000 42 104 0 0 1 0 0 DTX1 1840 broad.mit.edu 37 12 113532886 113532886 + Missense_Mutation SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr12:113532886G>A ENST00000257600.3 + 7 1929 c.1426G>A c.(1426-1428)Ggg>Agg p.G476R DTX1_ENST00000547974.1_3'UTR NM_004416.2 NP_004407.2 Q86Y01 DTX1_HUMAN deltex homolog 1 (Drosophila) 476 negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter cytoplasm|nucleus Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 32 GGCCATCTACGGGGAGAAGAC 0.652000 14 82 0 0 1 0 0 P4HB 5034 broad.mit.edu 37 17 79804359 79804359 + Silent SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr17:79804359C>T ENST00000331483.4 - 7 1224 c.1002G>A c.(1000-1002)ctG>ctA p.L334L P4HB_ENST00000439918.2_Silent_p.L290L|P4HB_ENST00000576390.1_Intron NM_000918.3 NP_000909.2 P07237 PDIA1_HUMAN prolyl 4-hydroxylase, beta polypeptide 334 cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1) 22 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509) TCTCTGCCGTCAGCTCCTCCG 0.632000 28 129 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178936095 178936095 + Missense_Mutation SNP A A G TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr3:178936095A>G ENST00000263967.3 + 10 1794 c.1637A>G c.(1636-1638)cAg>cGg p.Q546R NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 546 PI3K helical. Q -> E (in cancer).|Q -> K (in cancer).|Q -> P (in cancer).|Q -> R (in cancer). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.Q546R(30)|p.Q546P(18)|p.Q546L(5) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) ATCACTGAGCAGGAGAAAGAT 0.363000 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 27 32 0 0 1 0 0 CACNA1I 8911 broad.mit.edu 37 22 40030684 40030684 + Missense_Mutation SNP C C A rs61417992 TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr22:40030684C>A ENST00000336649.4 + 7 695 c.695C>A c.(694-696)gCg>gAg p.A232E CACNA1I_ENST00000401624.1_Missense_Mutation_p.A232E|CACNA1I_ENST00000404898.1_Missense_Mutation_p.A232E|CACNA1I_ENST00000402142.3_Missense_Mutation_p.A232E|CACNA1I_ENST00000407673.1_Missense_Mutation_p.A232E|CACNA1I_ENST00000400164.3_Missense_Mutation_p.A232E Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, alpha 1I subunit 232 axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) CAGCTCTGGGCGGGCCTGCTG 0.562000 21 134 3.62473e-10 3.81551e-10 1 1 0 RAB20 55647 broad.mit.edu 37 13 111176499 111176499 + Missense_Mutation SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr13:111176499G>A ENST00000267328.3 - 2 431 c.218C>T c.(217-219)gCg>gTg p.A73V NM_017817.1 NP_060287.1 Q9NX57 RAB20_HUMAN RAB20, member RAS oncogene family 73 protein transport|small GTPase mediated signal transduction Golgi apparatus GTP binding endometrium(2)|large_intestine(2)|lung(3) 7 all_cancers(4;1.54e-11)|all_epithelial(4;1.22e-06)|all_lung(23;1e-05)|Lung NSC(43;0.000453)|Colorectal(4;0.00323)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.197) GATGGCGGCCGCCCCCCGGCA 0.607000 29 81 0 0 1 0 0 MANEA 79694 broad.mit.edu 37 6 96053848 96053848 + Missense_Mutation SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr6:96053848G>A ENST00000358812.4 + 5 1090 c.956G>A c.(955-957)gGa>gAa p.G319E MANEA_ENST00000474553.1_3'UTR NM_024641.3 NP_078917.2 Q5SRI9 MANEA_HUMAN mannosidase, endo-alpha 319 Catalytic (Probable). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane glycoprotein endo-alpha-1,2-mannosidase activity breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341) BRCA - Breast invasive adenocarcinoma(108;0.148) GGTTTTGATGGAATTTACACA 0.338000 10 40 0 0 1 0 0 TBC1D2 55357 broad.mit.edu 37 9 100991351 100991351 + Missense_Mutation SNP C C G TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr9:100991351C>G ENST00000375066.5 - 5 952 c.861G>C c.(859-861)caG>caC p.Q287H TBC1D2_ENST00000493589.2_5'UTR|TBC1D2_ENST00000375064.1_Missense_Mutation_p.Q287H|TBC1D2_ENST00000342112.5_Missense_Mutation_p.Q69H NM_018421.3 NP_060891.3 Q9BYX2 TBD2A_HUMAN TBC1 domain family, member 2 287 cell junction|cytoplasmic membrane-bounded vesicle|nucleus Rab GTPase activator activity breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;2.55e-37) AGGTGTTGTTCTGGCGCTTGG 0.532000 14 89 0 0 1 0 0 TRIB3 57761 broad.mit.edu 37 20 377161 377161 + Missense_Mutation SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr20:377161G>A ENST00000217233.3 + 4 1457 c.904G>A c.(904-906)Gaa>Aaa p.E302K TRIB3_ENST00000422053.2_Missense_Mutation_p.E329K NM_021158.3 NP_066981.2 Q96RU7 TRIB3_HUMAN tribbles pseudokinase 3 302 Protein kinase. apoptosis|cellular lipid metabolic process|insulin receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fatty acid biosynthetic process|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein binding|positive regulation of ubiquitin-protein ligase activity|regulation of glucose transport|regulation of MAP kinase activity|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent cytosol|nucleus|plasma membrane ATP binding|protein kinase activity|protein kinase binding|protein kinase inhibitor activity|transcription corepressor activity|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|skin(1) 21 all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231) Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112) GGAGCCAGCTGAACGGCTCAC 0.687000 17 101 0 0 1 0 0 MDC1 9656 broad.mit.edu 37 6 30675515 30675515 + Silent SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr6:30675515C>T ENST00000376406.3 - 8 3488 c.2841G>A c.(2839-2841)caG>caA p.Q947Q MDC1_ENST00000376405.2_Intron|MDC1-AS1_ENST00000442150.1_RNA NM_014641.2 NP_055456.2 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 947 Missing (in Ref. 2; CAH18685). cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|kidney(1)|ovary(1) 4 GCTCCCCTCTCTGTGTATCTC 0.592000 Other conserved DNA damage response genes 24 98 0 0 1 0 0 TRPC5 7224 broad.mit.edu 37 X 111019559 111019559 + Silent SNP T T C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chrX:111019559T>C ENST00000262839.2 - 11 3822 c.2904A>G c.(2902-2904)caA>caG p.Q968Q NM_012471.2 NP_036603.1 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, subfamily C, member 5 968 axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 GAGTTGTAACTTGTTCTTCCT 0.423000 5 62 0 0 1 0 0 FMOD 2331 broad.mit.edu 37 1 203316731 203316731 + Missense_Mutation SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr1:203316731C>T ENST00000354955.4 - 2 1131 c.668G>A c.(667-669)cGg>cAg p.R223Q FMOD_ENST00000493296.1_Intron NM_002023.4 NP_002014.2 Q06828 FMOD_HUMAN fibromodulin 223 transforming growth factor beta receptor complex assembly extracellular space|proteinaceous extracellular matrix breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 17 BRCA - Breast invasive adenocarcinoma(75;0.171) GATCAGTGACCGGAGGCCCCT 0.567000 72 189 0 0 1 0 0 SETDB1 9869 broad.mit.edu 37 1 150923371 150923371 + Missense_Mutation SNP A A G TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr1:150923371A>G ENST00000271640.5 + 13 2208 c.2018A>G c.(2017-2019)tAt>tGt p.Y673C SETDB1_ENST00000368969.4_Missense_Mutation_p.Y673C|SETDB1_ENST00000459773.1_Intron NM_001145415.1|NM_012432.3 NP_001138887.1|NP_036564.3 Q15047 SETB1_HUMAN SET domain, bifurcated 1 673 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|Golgi apparatus|nucleus|plasma membrane DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 12 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211) TTTCAGCCCTATAAGCCTTTT 0.463000 35 83 0 0 1 0 0 ANKRD52 283373 broad.mit.edu 37 12 56647181 56647181 + Missense_Mutation SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr12:56647181C>T ENST00000267116.7 - 10 1112 c.991G>A c.(991-993)Gag>Aag p.E331K NM_173595.3 NP_775866.2 Q8NB46 ANR52_HUMAN ankyrin repeat domain 52 331 protein binding endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1) 29 CAATCAATCTCGCTGCCTGTG 0.532000 17 72 0 0 1 0 0 ARHGAP44 9912 broad.mit.edu 37 17 12819326 12819326 + Missense_Mutation SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr17:12819326G>A ENST00000379672.5 + 5 685 c.385G>A c.(385-387)Gag>Aag p.E129K ARHGAP44_ENST00000262444.9_Missense_Mutation_p.E129K|ARHGAP44_ENST00000340825.3_Missense_Mutation_p.E129K NM_014859.4 NP_055674.4 Q17R89 RHG44_HUMAN Rho GTPase activating protein 44 129 BAR. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1) 31 TTTGCTGGCGGAGGTAAGCAG 0.512000 8 26 0 0 1 0 0 BEST3 144453 broad.mit.edu 37 12 70070717 70070717 + Silent SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr12:70070717G>A ENST00000330891.5 - 7 1072 c.846C>T c.(844-846)ttC>ttT p.F282F BEST3_ENST00000553096.1_Silent_p.F176F|BEST3_ENST00000331471.4_Silent_p.F282F|BEST3_ENST00000476098.1_Intron|BEST3_ENST00000488961.1_Intron NM_001282613.1|NM_032735.2 NP_001269542.1|NP_116124.2 Q8N1M1 BEST3_HUMAN bestrophin 3 282 chloride channel complex|plasma membrane chloride channel activity cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2) 12 Breast(13;2.31e-06)|Esophageal squamous(21;0.187) Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694) CTGCATAGAAGAAGAATTGTA 0.473000 28 147 0 0 1 0 0 COX7B2 170712 broad.mit.edu 37 4 46737107 46737107 + Missense_Mutation SNP G G C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr4:46737107G>C ENST00000396533.1 - 4 353 c.103C>G c.(103-105)Cat>Gat p.H35D COX7B2_ENST00000543208.1_Missense_Mutation_p.H34D|COX7B2_ENST00000302930.5_Missense_Mutation_p.H35D|COX7B2_ENST00000355591.3_Missense_Mutation_p.H35D Q8TF08 CX7B2_HUMAN cytochrome c oxidase subunit VIIb2 35 integral to membrane|mitochondrial respiratory chain cytochrome-c oxidase activity large_intestine(1)|lung(4) 5 TATTTATCATGAAAATCTGGT 0.423000 8 76 0 0 1 0 0 PLVAP 83483 broad.mit.edu 37 19 17487766 17487766 + Missense_Mutation SNP C C T rs144117840 TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr19:17487766C>T ENST00000252590.4 - 1 393 c.332G>A c.(331-333)cGc>cAc p.R111H NM_031310.1 NP_112600.1 Q9BX97 PLVAP_HUMAN plasmalemma vesicle associated protein 111 caveola|integral to membrane|perinuclear region of cytoplasm cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 GGCATTGATGCGGTCCAGGTC 0.637000 12 66 0 0 1 0 0 ANKHD1 54882 broad.mit.edu 37 5 139838425 139838425 + Missense_Mutation SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr5:139838425G>A ENST00000297183.6 + 8 1582 c.1458G>A c.(1456-1458)atG>atA p.M486I ANKHD1_ENST00000394722.3_Missense_Mutation_p.M475I|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.M486I|ANKHD1_ENST00000360839.2_Missense_Mutation_p.M486I|ANKHD1_ENST00000394723.3_Missense_Mutation_p.M486I NM_020690.5 NP_065741.3 ankyrin repeat and KH domain containing 1 breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATGAAGAAATGGTGGCACTAC 0.398000 11 79 0 0 1 0 0 TMPRSS6 164656 broad.mit.edu 37 22 37465272 37465272 + Missense_Mutation SNP C C G TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr22:37465272C>G ENST00000381792.2 - 16 2094 c.1954G>C c.(1954-1956)Gaa>Caa p.E652Q TMPRSS6_ENST00000406856.1_Missense_Mutation_p.E652Q|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.E652Q|TMPRSS6_ENST00000346753.3_Missense_Mutation_p.E661Q Q8IU80 TMPS6_HUMAN transmembrane protease, serine 6 661 Peptidase S1. angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis integral to membrane|intracellular|plasma membrane serine-type endopeptidase activity breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3) 40 CTGTCCTCTTCGTGGTACGGG 0.692000 4 21 0 0 1 0 0 VAPA 9218 broad.mit.edu 37 18 9931810 9931810 + Missense_Mutation SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr18:9931810C>T ENST00000400000.2 + 2 338 c.83C>T c.(82-84)cCc>cTc p.P28L VAPA_ENST00000340541.4_Missense_Mutation_p.P28L|VAPA_ENST00000584796.1_3'UTR NM_003574.5|NM_194434.2 NP_003565.4|NP_919415.2 Q9P0L0 VAPA_HUMAN VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa 28 MSP. cell death|cellular membrane fusion|neuron projection development|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein localization in endoplasmic reticulum|sphingolipid metabolic process endoplasmic reticulum membrane|integral to membrane|plasma membrane|vesicle protein heterodimerization activity|signal transducer activity|structural molecule activity breast(1)|lung(2)|prostate(1) 4 TTTACAGGCCCCTTCACAGAT 0.333000 21 88 0 0 1 0 0 STRIP1 85369 broad.mit.edu 37 1 110581817 110581817 + Silent SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr1:110581817C>T ENST00000369795.3 + 4 371 c.349C>T c.(349-351)Ctg>Ttg p.L117L STRIP1_ENST00000369796.1_Silent_p.L22L|STRIP1_ENST00000369794.2_Silent_p.L117L NM_033088.3 NP_149079.2 striatin interacting protein 1 GTGGACTGAGCTGGATACCAA 0.517000 13 46 0 0 1 0 0 CREB3L2 64764 broad.mit.edu 37 7 137590506 137590506 + Missense_Mutation SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr7:137590506G>A ENST00000330387.6 - 6 1208 c.857C>T c.(856-858)cCc>cTc p.P286L CREB3L2_ENST00000456390.1_Missense_Mutation_p.P286L NM_194071.3 NP_919047.2 Q70SY1 CR3L2_HUMAN cAMP responsive element binding protein 3-like 2 286 chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein endoplasmic reticulum membrane|integral to membrane|nucleus cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity FUS/CREB3L2(158) breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 19 TTTTGACAGGGGCAATTTGGT 0.522000 T FUS fibromyxoid sarcoma 34 161 0 0 1 0 0 IL12RB1 3594 broad.mit.edu 37 19 18174767 18174767 + Missense_Mutation SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr19:18174767C>T ENST00000600835.2 - 14 1835 c.1537G>A c.(1537-1539)Ggt>Agt p.G513S IL12RB1_ENST00000593993.2_Missense_Mutation_p.G513S P42701 I12R1_HUMAN interleukin 12 receptor, beta 1 Fibronectin type-III 5. cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response interleukin-12 receptor complex|interleukin-23 receptor complex cytokine receptor activity endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2) 8 TAGGCTACACCAGCCCGCAGG 0.637000 6 29 0 0 1 0 0 PKHD1 5314 broad.mit.edu 37 6 51524597 51524597 + Missense_Mutation SNP T T C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr6:51524597T>C ENST00000371117.3 - 61 10602 c.10327A>G c.(10327-10329)Agt>Ggt p.S3443G NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 3443 cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) GCATTTACACTGCTAAAGACA 0.413000 27 101 0 0 1 0 0 AFAP1 60312 broad.mit.edu 37 4 7770734 7770734 + Splice_Site SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr4:7770734G>A ENST00000420658.1 - 17 2527 c.2255C>T c.(2254-2256)tCt>tTt p.S752F AFAP1_ENST00000358461.2_Splice_Site_p.S668F|AFAP1_ENST00000360265.4_Splice_Site_p.S668F|AFAP1-AS1_ENST00000608442.1_RNA|AFAP1_ENST00000382543.3_Splice_Site_p.S752F|AFAP1_ENST00000513842.1_5'UTR NM_001134647.1 NP_001128119.1 Q8N556 AFAP1_HUMAN actin filament associated protein 1 668 actin cytoskeleton|cytoplasm|focal adhesion actin binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2) 32 GAACACTGGAGACTTAACGGA 0.547000 32 175 0 0 1 0 0 TLR7 51284 broad.mit.edu 37 X 12906301 12906301 + Missense_Mutation SNP G G C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chrX:12906301G>C ENST00000380659.3 + 3 2813 c.2674G>C c.(2674-2676)Gat>Cat p.D892H NM_016562.3 NP_057646.1 Q9NYK1 TLR7_HUMAN toll-like receptor 7 892 TIR. cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 44 Imiquimod(DB00724) CTGTTGCTATGATGCTTTTAT 0.433000 29 187 0 0 1 0 0 CABLES1 91768 broad.mit.edu 37 18 20832925 20832925 + Splice_Site SNP C C A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr18:20832925C>A ENST00000256925.7 + 8 1448 c.1448C>A c.(1447-1449)aCa>aAa p.T483K CABLES1_ENST00000420687.2_Splice_Site_p.T218K|CABLES1_ENST00000585061.1_Intron|CABLES1_ENST00000400473.2_Splice_Site_p.T156K|TMEM241_ENST00000450466.2_Intron NM_001100619.2 NP_001094089.1 Q8TDN4 CABL1_HUMAN Cdk5 and Abl enzyme substrate 1 483 Interacts with CDK3 (By similarity). blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division cytosol|nucleus cyclin-dependent protein kinase regulator activity|protein binding breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1) 11 all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127) CTGTTACAGACAACAGTGATT 0.438000 11 44 5.50884e-06 5.66329e-06 1 1 0 PMEL 6490 broad.mit.edu 37 12 56349288 56349288 + Silent SNP G G C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr12:56349288G>C ENST00000548747.1 - 9 2384 c.1722C>G c.(1720-1722)acC>acG p.T574T PMEL_ENST00000550464.1_Silent_p.T488T|PMEL_ENST00000548493.1_Silent_p.T574T|PMEL_ENST00000536427.1_Silent_p.T532T|PMEL_ENST00000360714.4_Silent_p.T574T|PMEL_ENST00000539511.1_Silent_p.T488T|PMEL_ENST00000552882.1_Silent_p.T574T|PMEL_ENST00000449260.2_Silent_p.T574T|PMEL_ENST00000550447.1_Silent_p.T203T P40967 PMEL_HUMAN premelanosome protein 574 melanin biosynthetic process|melanosome organization endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane protein binding NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 CCAGGCTGTTGGTATCAGCCA 0.582000 16 73 0 0 1 0 0 SEMA3D 223117 broad.mit.edu 37 7 84651768 84651768 + Silent SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr7:84651768C>T ENST00000284136.6 - 11 1396 c.1353G>A c.(1351-1353)caG>caA p.Q451Q SEMA3D_ENST00000484038.1_5'UTR NM_152754.2 NP_689967.2 O95025 SEM3D_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D 451 Sema. cell differentiation|nervous system development extracellular region|membrane receptor activity NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2) 73 CCACCACTATCTGTGTCAGTC 0.403000 34 160 0 0 1 0 0 ZNF660 285349 broad.mit.edu 37 3 44635933 44635933 + Missense_Mutation SNP G G C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr3:44635933G>C ENST00000322734.2 + 3 581 c.248G>C c.(247-249)tGt>tCt p.C83S RP11-944L7.4_ENST00000457331.1_RNA NM_173658.2 NP_775929.2 Q6AZW8 ZN660_HUMAN zinc finger protein 660 83 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(2)|lung(4) 6 KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585) TGTAAGGAGTGTGGAAAAGCT 0.443000 15 44 0 0 1 0 0 ZNF404 342908 broad.mit.edu 37 19 44378165 44378165 + Silent SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr19:44378165C>T ENST00000587539.1 - 3 200 c.201G>A c.(199-201)gcG>gcA p.A67A ZNF404_ENST00000324394.6_Silent_p.A65A NM_001033719.2 NP_001028891.2 Q494X3 ZN404_HUMAN zinc finger protein 404 67 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1) 17 Prostate(69;0.0352) CCTGATGGTACGCATTTACTT 0.318000 11 51 0 0 1 0 0 STK33 65975 broad.mit.edu 37 11 8483449 8483449 + Missense_Mutation SNP C C A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr11:8483449C>A ENST00000447869.1 - 4 1379 c.461G>T c.(460-462)aGc>aTc p.S154I STK33_ENST00000315204.1_Missense_Mutation_p.S154I|STK33_ENST00000396673.1_Missense_Mutation_p.S154I|STK33_ENST00000396672.1_Missense_Mutation_p.S154I|STK33_ENST00000358872.3_5'UTR|STK33_ENST00000534493.1_Missense_Mutation_p.S113I Q9BYT3 STK33_HUMAN serine/threonine kinase 33 154 Protein kinase. Golgi apparatus|nucleus|perinuclear region of cytoplasm ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3) 23 Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239) CACAGCAGAGCTTCCAGCCTT 0.338000 11 39 4.84862e-15 5.2289e-15 1 1 0 MYO9A 4649 broad.mit.edu 37 15 72186022 72186022 + Missense_Mutation SNP C C G TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr15:72186022C>G ENST00000356056.5 - 26 5612 c.5140G>C c.(5140-5142)Gag>Cag p.E1714Q MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Missense_Mutation_p.E1695Q|MYO9A_ENST00000564571.1_Missense_Mutation_p.E1714Q|MYO9A_ENST00000424560.1_Missense_Mutation_p.E1714Q NM_006901.3 NP_008832.2 B2RTY4 MYO9A_HUMAN myosin IXA 1714 Tail. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 AAACTTACCTCTCTTTGGCCT 0.368000 7 34 0 0 1 0 0 ISOC1 51015 broad.mit.edu 37 5 128430720 128430720 + Silent SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr5:128430720C>T ENST00000173527.5 + 1 277 c.261C>T c.(259-261)ttC>ttT p.F87F NM_016048.2 NP_057132.2 Q96CN7 ISOC1_HUMAN isochorismatase domain containing 1 87 peroxisome catalytic activity kidney(2)|lung(7) 9 all_cancers(142;0.0813)|Prostate(80;0.0865) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Epithelial(69;0.138)|OV - Ovarian serous cystadenocarcinoma(64;0.164) CCAAGGGCTTCGCGGTGAGCG 0.667000 4 23 0 0 1 0 0 CCDC125 202243 broad.mit.edu 37 5 68603838 68603838 + Silent SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr5:68603838G>A ENST00000396496.2 - 5 578 c.471C>T c.(469-471)gcC>gcT p.A157A CCDC125_ENST00000383374.2_Silent_p.A156A|CCDC125_ENST00000511257.1_Silent_p.A32A|CCDC125_ENST00000460090.1_Intron|CCDC125_ENST00000396499.1_Silent_p.A157A Q86Z20 CC125_HUMAN coiled-coil domain containing 125 157 cytoplasm breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|urinary_tract(1) 19 Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183) TATGACTTGTGGCTTTGCCCA 0.333000 7 47 0 0 1 0 0 WDR70 55100 broad.mit.edu 37 5 37379600 37379600 + Missense_Mutation SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr5:37379600C>T ENST00000265107.4 + 2 191 c.35C>T c.(34-36)tCa>tTa p.S12L WDR70_ENST00000504564.1_Missense_Mutation_p.S12L NM_018034.2 NP_060504.1 Q9NW82 WDR70_HUMAN WD repeat domain 70 12 central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 all_lung(31;0.000285) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GTGACAGGCTCAGACGCGTCG 0.662000 23 93 0 0 1 0 0 JMJD4 65094 broad.mit.edu 37 1 227921241 227921241 + Silent SNP G G A rs117793265 by1000genomes TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr1:227921241G>A ENST00000366758.3 - 4 833 c.834C>T c.(832-834)tcC>tcT p.S278S SNAP47_ENST00000366760.1_Intron|JMJD4_ENST00000438896.2_Silent_p.S278S|JMJD4_ENST00000485807.1_5'UTR|SNAP47_ENST00000480897.1_3'UTR NM_023007.2 NP_075383.2 Q9H9V9 JMJD4_HUMAN jumonji domain containing 4 278 JmjC. endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1) 9 Prostate(94;0.0885) AGAGTGCTGGGGAGGTCACGT 0.642000 21 61 0 0 1 0 0 CDR1 1038 broad.mit.edu 37 X 139866027 139866027 + Missense_Mutation SNP G G C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chrX:139866027G>C ENST00000370532.2 - 1 696 c.505C>G c.(505-507)Cgt>Ggt p.R169G NM_004065.2 NP_004056.2 P51861 CDR1_HUMAN cerebellar degeneration-related protein 1, 34kDa 169 6 X 6 AA approximate repeats. p.R169C(1) breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1) 25 Acute lymphoblastic leukemia(192;7.65e-05) Lung SC(4;0.051) GAAAATCCACGTCTTCCCAAC 0.423000 63 266 0 0 1 0 0 MFSD11 79157 broad.mit.edu 37 17 74774367 74774367 + Missense_Mutation SNP C C T rs3198672 TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr17:74774367C>T ENST00000588460.1 + 13 3325 c.1283C>T c.(1282-1284)tCt>tTt p.S428F MFSD11_ENST00000336509.4_Missense_Mutation_p.S428F|MFSD11_ENST00000355954.3_Missense_Mutation_p.S376F|MFSD11_ENST00000593181.1_Missense_Mutation_p.S376F|MFSD11_ENST00000586622.1_Missense_Mutation_p.S428F|MFSD11_ENST00000590070.1_3'UTR|MFSD11_ENST00000590514.1_Missense_Mutation_p.S428F NM_001242534.1 NP_001229463.1 O43934 MFS11_HUMAN major facilitator superfamily domain containing 11 428 S -> F (in dbSNP:rs3198672). integral to membrane endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1) 17 GGAACAATTTCTTTCTTCACT 0.493000 11 79 0 0 1 0 0 ABI3BP 25890 broad.mit.edu 37 3 100566463 100566463 + Missense_Mutation SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr3:100566463G>A ENST00000471714.1 - 19 1761 c.1652C>T c.(1651-1653)cCt>cTt p.P551L ABI3BP_ENST00000495063.1_Missense_Mutation_p.P551L|ABI3BP_ENST00000284322.5_Missense_Mutation_p.P502L Q7Z7G0 TARSH_HUMAN ABI family, member 3 (NESH) binding protein 502 Pro-rich. extracellular space central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 50 TGTCCATGTAGGTTCAGGGCT 0.373000 86 113 0 0 1 0 0 RFC4 5984 broad.mit.edu 37 3 186512453 186512453 + Missense_Mutation SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr3:186512453C>T ENST00000392481.2 - 5 685 c.404G>A c.(403-405)cGc>cAc p.R135H RFC4_ENST00000433496.1_Missense_Mutation_p.R135H|RFC4_ENST00000296273.2_Missense_Mutation_p.R135H NM_181573.2 NP_853551.1 P35249 RFC4_HUMAN replication factor C (activator 1) 4, 37kDa 135 cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|protein binding breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 all_cancers(143;2.92e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;7.41e-21) GBM - Glioblastoma multiforme(93;0.0739) TTACTCTGAGCGACTTCCTGA 0.383000 13 56 0 0 1 0 0 HTRA1 5654 broad.mit.edu 37 10 124249040 124249040 + Silent SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr10:124249040G>A ENST00000368984.3 + 3 803 c.675G>A c.(673-675)aaG>aaA p.K225K NM_002775.4 NP_002766.1 Q92743 HTRA1_HUMAN HtrA serine peptidase 1 225 Serine protease. proteolysis|regulation of cell growth extracellular space insulin-like growth factor binding|serine-type endopeptidase activity endometrium(1)|kidney(1)|large_intestine(8)|lung(7) 17 all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238) TGACCAACAAGCACCGGGTCA 0.498000 4 80 0 0 1 0 0 INO80 54617 broad.mit.edu 37 15 41388442 41388442 + Nonsense_Mutation SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr15:41388442G>A ENST00000361937.3 - 2 491 c.67C>T c.(67-69)Cag>Tag p.Q23* INO80_ENST00000401393.3_Nonsense_Mutation_p.Q23* Q9ULG1 INO80_HUMAN INO80 complex subunit 23 Assembles INO80 complex module with putative regulatory components INO80E, INO80F, UCHL5, NFRKB, MCRS1 and IN80D. cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair Ino80 complex|microtubule actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 TCCAAGTACTGAAGATAGAGG 0.483000 5 51 0 0 1 0 0 MTUS1 57509 broad.mit.edu 37 8 17611479 17611479 + Missense_Mutation SNP T T G TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr8:17611479T>G ENST00000381869.3 - 2 2311 c.1838A>C c.(1837-1839)gAa>gCa p.E613A MTUS1_ENST00000519263.1_Missense_Mutation_p.E613A|MTUS1_ENST00000381862.3_Missense_Mutation_p.E613A|MTUS1_ENST00000262102.6_Missense_Mutation_p.E613A NM_001001925.2 NP_001001925.1 Q9ULD2 MTUS1_HUMAN microtubule associated tumor suppressor 1 613 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) GTCAACATCTTCCTGATTCGA 0.428000 33 125 0 0 1 0 0 MRTO4 51154 broad.mit.edu 37 1 19584362 19584362 + Missense_Mutation SNP G G C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr1:19584362G>C ENST00000330263.4 + 6 674 c.377G>C c.(376-378)cGa>cCa p.R126P NM_016183.3 NP_057267.2 Q9UKD2 MRT4_HUMAN mRNA turnover 4 homolog (S. cerevisiae) 126 ribosome biogenesis nuclear membrane|nucleolus p.R126Q(2) breast(1)|endometrium(1)|large_intestine(1)|liver(2)|ovary(1)|pancreas(1)|stomach(1) 8 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) GACTACGCCCGAGCTGGTAAC 0.592000 23 123 0 0 1 0 0 RIPK3 11035 broad.mit.edu 37 14 24808466 24808466 + Missense_Mutation SNP C C G TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr14:24808466C>G ENST00000216274.5 - 3 444 c.226G>C c.(226-228)Gaa>Caa p.E76Q RIPK3_ENST00000554338.1_5'UTR NM_006871.3 NP_006862.2 Q9Y572 RIPK3_HUMAN receptor-interacting serine-threonine kinase 3 76 Protein kinase. apoptosis|induction of apoptosis by extracellular signals cytoplasm ATP binding|protein binding|transcription coactivator activity NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 GBM - Glioblastoma multiforme(265;0.0181) ATAACCCCTTCTAGGCGCAGC 0.572000 22 91 0 0 1 0 0 KRT9 3857 broad.mit.edu 37 17 39727637 39727637 + Missense_Mutation SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr17:39727637G>A ENST00000246662.4 - 1 673 c.608C>T c.(607-609)cCt>cTt p.P203L KRT9_ENST00000588431.1_5'UTR NM_000226.3 NP_000217.2 P35527 K1C9_HUMAN keratin 9 203 Linker 1.|Rod. intermediate filament organization|skin development protein binding|structural constituent of cytoskeleton autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 Breast(137;0.000307) GTTATAATAAGGGGAGTAGTT 0.443000 30 143 0 0 1 0 0 OR8B2 26595 broad.mit.edu 37 11 124252654 124252654 + Missense_Mutation SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr11:124252654C>T ENST00000375013.2 - 1 604 c.586G>A c.(586-588)Gag>Aag p.E196K NM_001005468.1 NP_001005468.1 Q96RD0 OR8B2_HUMAN olfactory receptor, family 8, subfamily B, member 2 196 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1) 23 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) ACAACCACCTCGTTGACATAG 0.433000 18 83 0 0 1 0 0 H1FNT 341567 broad.mit.edu 37 12 48723522 48723522 + Missense_Mutation SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr12:48723522G>A ENST00000335017.1 + 1 760 c.448G>A c.(448-450)Gcg>Acg p.A150T NM_181788.1 NP_861453.1 Q75WM6 H1FNT_HUMAN H1 histone family, member N, testis-specific 150 Arg-rich. chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation nuclear chromatin ATP binding|DNA binding p.A150T(1) endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 13 GACCCCAGCCGCGCCCCGGAG 0.706000 7 24 0 0 1 0 0 NDUFA12 55967 broad.mit.edu 37 12 95397387 95397387 + Missense_Mutation SNP G G T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr12:95397387G>T ENST00000327772.2 - 1 159 c.70C>A c.(70-72)Cta>Ata p.L24I NDUFA12_ENST00000547986.1_Missense_Mutation_p.L24I|NDUFA12_ENST00000547157.1_Missense_Mutation_p.L24I NM_018838.4 NP_061326.1 Q9UI09 NDUAC_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12 24 respiratory electron transport chain|respiratory gaseous exchange|response to oxidative stress|transport mitochondrial respiratory chain complex I electron carrier activity|NADH dehydrogenase (ubiquinone) activity endometrium(1)|large_intestine(2)|lung(3) 6 NADH(DB00157) AAAACCCGTAGATAGCCTCGG 0.637000 30 168 5.91797e-21 6.44531e-21 1 1 0 FAT1 2195 broad.mit.edu 37 4 187540391 187540391 + Nonsense_Mutation SNP G G C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr4:187540391G>C ENST00000441802.2 - 10 7558 c.7349C>G c.(7348-7350)tCa>tGa p.S2450* NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 2450 Cadherin 22. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding p.S2450*(2)|p.S2453*(2) NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 GTGCAGGTTTGAGAGGGTGAT 0.433000 HNSCC(5;0.00058) 25 136 0 0 1 0 0 MCTP2 55784 broad.mit.edu 37 15 94857556 94857556 + Missense_Mutation SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr15:94857556C>T ENST00000357742.4 + 2 511 c.511C>T c.(511-513)Cat>Tat p.H171Y MCTP2_ENST00000331706.4_5'UTR|MCTP2_ENST00000451018.3_Missense_Mutation_p.H171Y|MCTP2_ENST00000543482.1_Missense_Mutation_p.H171Y NM_018349.3 NP_060819.3 Q6DN12 MCTP2_HUMAN multiple C2 domains, transmembrane 2 171 calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2) 49 Lung NSC(78;0.0821)|all_lung(78;0.148) BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593) GACATCTCAACATTTTGAAGA 0.318000 4 21 0 0 1 0 0 NFKB2 4791 broad.mit.edu 37 10 104158221 104158221 + Missense_Mutation SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr10:104158221G>A ENST00000369966.3 + 11 1182 c.932G>A c.(931-933)cGc>cAc p.R311H NFKB2_ENST00000428099.1_Missense_Mutation_p.R311H|NFKB2_ENST00000336486.5_3'UTR|NFKB2_ENST00000189444.6_Missense_Mutation_p.R311H NM_001077494.2 NP_001070962.1 Q00653 NFKB2_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100) 311 RHD. innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2) 23 Colorectal(252;0.00957) Epithelial(162;3.4e-08)|all cancers(201;6.41e-07) CAACTGAAACGCAAGCGAGGA 0.577000 T IGH@ B-NHL 4 111 0 0 1 0 0 NUP188 23511 broad.mit.edu 37 9 131760889 131760889 + Missense_Mutation SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr9:131760889C>T ENST00000372577.2 + 32 3523 c.3502C>T c.(3502-3504)Cgg>Tgg p.R1168W NM_015354.1 NP_056169.1 Q5SRE5 NU188_HUMAN nucleoporin 188kDa 1168 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 TATCCTCCTCCGGCAGTGGAA 0.567000 14 90 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578534 7578534 + Missense_Mutation SNP C C G TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr17:7578534C>G ENST00000420246.2 - 5 528 c.396G>C c.(394-396)aaG>aaC p.K132N TP53_ENST00000445888.2_Missense_Mutation_p.K132N|TP53_ENST00000413465.2_Missense_Mutation_p.K132N|TP53_ENST00000359597.4_Missense_Mutation_p.K132N|TP53_ENST00000455263.2_Missense_Mutation_p.K132N|TP53_ENST00000269305.4_Missense_Mutation_p.K132N NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 132 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. K -> E (in LFS; germline mutation and in sporadic cancers; somatic mutation).|K -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).|K -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|KM -> NL (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.K132N(49)|p.0?(8)|p.Y126_K132delYSPALNK(6)|p.K39N(2)|p.N131fs*27(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.A129_K132delALNK(1)|p.Y126fs*11(1)|p.K132K(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.L130_M133delLNKM(1)|p.M133fs*37(1)|p.M133fs*16(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GGCAAAACATCTTGTTGAGGG 0.562000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 11 54 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577082 7577082 + Nonsense_Mutation SNP C C A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr17:7577082C>A ENST00000420246.2 - 8 988 c.856G>T c.(856-858)Gaa>Taa p.E286* TP53_ENST00000445888.2_Nonsense_Mutation_p.E286*|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.E286*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E286*|TP53_ENST00000269305.4_Nonsense_Mutation_p.E286* NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 286 Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity). E -> A (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.E286K(58)|p.E286*(22)|p.0?(8)|p.E286Q(5)|p.?(2)|p.E286fs*59(2)|p.E286fs*17(2)|p.R283fs*16(2)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.R283fs*56(1)|p.E285fs*13(1)|p.G279fs*59(1)|p.R283fs*59(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) AGATTCTCTTCCTCTGTGCGC 0.557000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 19 53 6.94344e-10 7.27408e-10 1 1 0 TLN2 83660 broad.mit.edu 37 15 62993399 62993399 + Missense_Mutation SNP T T G TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr15:62993399T>G ENST00000561311.1 + 16 1912 c.1682T>G c.(1681-1683)gTt>gGt p.V561G TLN2_ENST00000306829.6_Missense_Mutation_p.V561G Q9Y4G6 TLN2_HUMAN talin 2 561 cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5) 99 GCTTCAGTTGTTAACCTCACA 0.403000 5 43 0 0 1 0 0 MAMDC4 158056 broad.mit.edu 37 9 139754396 139754396 + Silent SNP C C G TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr9:139754396C>G ENST00000445819.1 + 28 3539 c.3489C>G c.(3487-3489)ctC>ctG p.L1163L MAMDC4_ENST00000485732.1_3'UTR|MAMDC4_ENST00000317446.2_Silent_p.L1084L Q6UXC1 AEGP_HUMAN MAM domain containing 4 1163 protein transport integral to membrane breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 19 all_cancers(76;0.0763)|all_epithelial(76;0.198) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171) TCCTATTGCTCATGCTCCTGG 0.647000 16 32 0 0 1 0 0 KRTAP26-1 388818 broad.mit.edu 37 21 31691783 31691783 + Missense_Mutation SNP T T A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr21:31691783T>A ENST00000360542.3 - 1 824 c.571A>T c.(571-573)Agt>Tgt p.S191C NM_203405.1 NP_981950.1 Q6PEX3 KR261_HUMAN keratin associated protein 26-1 191 intermediate filament endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 16 TGGCAACCACTGAACAGAGGC 0.532000 54 314 0 0 1 0 0 CCDC125 202243 broad.mit.edu 37 5 68616398 68616398 + Translation_Start_Site SNP A A C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr5:68616398A>C ENST00000511257.1 - 0 38 CCDC125_ENST00000383374.2_De_novo_Start_InFrame|CCDC125_ENST00000396496.2_De_novo_Start_InFrame|CCDC125_ENST00000460090.1_5'UTR|CCDC125_ENST00000396499.1_De_novo_Start_InFrame Q86Z20 CC125_HUMAN coiled-coil domain containing 125 cytoplasm breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|urinary_tract(1) 19 Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183) CATAAGAAAAAATGGGCTGTC 0.413000 11 25 0 0 1 0 0 SEMA6C 10500 broad.mit.edu 37 1 151108092 151108092 + Missense_Mutation SNP C C G TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr1:151108092C>G ENST00000341697.3 - 14 3099 c.1408G>C c.(1408-1410)Gag>Cag p.E470Q Q9H3T2 SEM6C_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C 470 Sema. integral to membrane receptor activity p.E470Q(1) central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 28 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) GCATCAATCTCTTCCAGGAGG 0.602000 67 122 0 0 1 0 0 KIF16B 55614 broad.mit.edu 37 20 16360474 16360474 + Nonsense_Mutation SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr20:16360474G>A ENST00000354981.2 - 19 2330 c.2173C>T c.(2173-2175)Cag>Tag p.Q725* KIF16B_ENST00000408042.1_Nonsense_Mutation_p.Q725*|KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000355755.3_Nonsense_Mutation_p.Q725* NM_001199865.1|NM_024704.4 NP_001186794.1|NP_078980.3 Q96L93 KI16B_HUMAN kinesin family member 16B 725 Glu-rich. cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling early endosome membrane|microtubule ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2) 74 TGAAATATCTGAAACTTCTCA 0.443000 29 108 0 0 1 0 0 TOR4A 54863 broad.mit.edu 37 9 140174221 140174221 + Missense_Mutation SNP C C G TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr9:140174221C>G ENST00000357503.2 + 2 1276 c.1080C>G c.(1078-1080)atC>atG p.I360M NM_017723.2 NP_060193.2 Q9NXH8 CI167_HUMAN torsin family 4, member A 360 chaperone mediated protein folding requiring cofactor integral to membrane ATP binding|nucleoside-triphosphatase activity CCGCGGCCATCGTGCCGTTTC 0.697000 8 10 0 0 1 0 0 ZBTB4 57659 broad.mit.edu 37 17 7366260 7366260 + Missense_Mutation SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr17:7366260C>T ENST00000311403.4 - 4 2380 c.2041G>A c.(2041-2043)Ggt>Agt p.G681S ZBTB4_ENST00000380599.4_Missense_Mutation_p.G681S NM_020899.3 NP_065950.2 Q9P1Z0 ZBTB4_HUMAN zinc finger and BTB domain containing 4 681 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6) 36 Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255) COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642) ACACTGGCACCTCCAGCAGCT 0.662000 5 184 0 0 1 0 0 TRIM5 85363 broad.mit.edu 37 11 5686559 5686559 + Missense_Mutation SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr11:5686559C>T ENST00000305836.5 - 8 1264 c.962G>A c.(961-963)aGc>aAc p.S321N TRIM5_ENST00000396853.4_Intron|TRIM5_ENST00000396847.3_3'UTR|TRIM5_ENST00000380034.3_Missense_Mutation_p.S321N|TRIM5_ENST00000380027.1_Intron|TRIM5_ENST00000396855.3_Intron|TRIM5_ENST00000483835.1_5'UTR Q9C035 TRIM5_HUMAN tripartite motif containing 5 321 B30.2/SPRY. interspecies interaction between organisms|protein trimerization|response to virus cytoplasm|cytoplasmic mRNA processing body ligase activity|protein binding|protein homodimerization activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 21 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221) Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139) TTTCGGAGAGCTCACTTGTCT 0.408000 13 69 0 0 1 0 0 DOCK8 81704 broad.mit.edu 37 9 336580 336580 + Splice_Site SNP A A T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr9:336580A>T ENST00000432829.2 + 12 1397 c.e12-1 DOCK8_ENST00000453981.1_Splice_Site|DOCK8_ENST00000469391.1_Splice_Site NM_203447.3 NP_982272.2 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 65 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) TTTTTCTTAAAGGGAGAAGCT 0.423000 13 51 0 0 1 0 0 ASIC2 40 broad.mit.edu 37 17 32483149 32483149 + Missense_Mutation SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr17:32483149C>T ENST00000359872.6 - 1 1164 c.403G>A c.(403-405)Gag>Aag p.E135K NM_001094.4 NP_001085.2 Q16515 ACCN1_HUMAN acid-sensing (proton-gated) ion channel 2 135 central nervous system development|peripheral nervous system development|synaptic transmission integral to plasma membrane ligand-gated sodium channel activity|protein binding p.E135Q(1) Amiloride(DB00594) CGCAGGGCCTCCAGCACGGAG 0.597000 26 119 0 0 1 0 0 METTL24 728464 broad.mit.edu 37 6 110567226 110567226 + Nonsense_Mutation SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr6:110567226G>A ENST00000338882.4 - 5 1023 c.1024C>T c.(1024-1026)Cag>Tag p.Q342* CDC40_ENST00000368930.1_Intron NM_001123364.1 NP_001116836.1 Q5JXM2 CF186_HUMAN methyltransferase like 24 342 extracellular region AAGAATAGCTGAGGTTTAGAT 0.403000 15 90 0 0 1 0 0 PHEX 5251 broad.mit.edu 37 X 22094533 22094533 + Missense_Mutation SNP G G C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chrX:22094533G>C ENST00000379374.4 + 4 942 c.377G>C c.(376-378)aGg>aCg p.R126T PHEX_ENST00000537599.1_Missense_Mutation_p.R126T|PHEX_ENST00000535894.1_Missense_Mutation_p.R29T NM_000444.4 NP_000435.3 P78562 PHEX_HUMAN phosphate regulating endopeptidase homolog, X-linked 126 biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development integral to plasma membrane aminopeptidase activity|metalloendopeptidase activity|zinc ion binding breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 42 ATCAGTAGAAGGCGGGACACC 0.383000 5 35 0 0 1 0 0 ATAD2 29028 broad.mit.edu 37 8 124383508 124383508 + Missense_Mutation SNP C C G TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr8:124383508C>G ENST00000287394.5 - 5 714 c.607G>C c.(607-609)Gaa>Caa p.E203Q ATAD2_ENST00000521903.1_5'UTR NM_014109.3 NP_054828.2 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 203 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 48 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) CCCAAGTCTTCAAGTTCTCTC 0.308000 8 28 0 0 1 0 0 TXNIP 10628 broad.mit.edu 37 1 145440274 145440274 + Missense_Mutation SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr1:145440274G>A ENST00000369317.4 + 5 914 c.580G>A c.(580-582)Gag>Aag p.E194K TXNIP_ENST00000475171.1_Intron NM_006472.3 NP_006463.3 Q9H3M7 TXNIP_HUMAN thioredoxin interacting protein 194 cell cycle|keratinocyte differentiation|transcription, DNA-dependent ubiquitin protein ligase binding p.E194K(1) breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 21 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GCTAGGTGATGAGATTTCCAT 0.478000 21 149 0 0 1 0 0 GPR158 57512 broad.mit.edu 37 10 25885648 25885648 + Missense_Mutation SNP C C G TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr10:25885648C>G ENST00000376351.3 + 10 2434 c.2075C>G c.(2074-2076)tCt>tGt p.S692C GPR158_ENST00000490549.1_3'UTR NM_020752.2 NP_065803.2 Q5T848 GP158_HUMAN G protein-coupled receptor 158 692 integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 ATGGGCCGATCTGGATCCTAC 0.443000 14 42 0 0 1 0 0 CPNE8 144402 broad.mit.edu 37 12 39047685 39047685 + Silent SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr12:39047685C>T ENST00000331366.5 - 20 1790 c.1694G>A c.(1693-1695)tGa>tAa p.*565* CPNE8_ENST00000546603.1_5'UTR|CPNE8_ENST00000538596.2_Silent_p.*234*|CPNE8_ENST00000360449.3_Silent_p.*553* NM_153634.2 NP_705898.1 Q86YQ8 CPNE8_HUMAN copine VIII 0 NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2) 21 Esophageal squamous(101;0.187) Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157) AGAGCACAGTCATATTTGAGT 0.458000 7 30 0 0 1 0 0 LPPR4 9890 broad.mit.edu 37 1 99771657 99771657 + Silent SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr1:99771657C>T ENST00000370185.3 + 7 1880 c.1383C>T c.(1381-1383)tcC>tcT p.S461S LPPR4_ENST00000457765.1_Silent_p.S403S|LPPR4_ENST00000370184.1_Silent_p.S303S NM_014839.4 NP_055654.2 Q7Z2D5 LPPR4_HUMAN 461 phosphatidate phosphatase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 72 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) GAAAGTTGTCCTTGCAAGTTA 0.502000 39 94 0 0 1 0 0 TRIM51 84767 broad.mit.edu 37 11 55653304 55653304 + Nonsense_Mutation SNP G G T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr11:55653304G>T ENST00000449290.2 + 2 492 c.400G>T c.(400-402)Gag>Tag p.E134* NM_032681.3 NP_116070.2 Q9BSJ1 SPRY5_HUMAN tripartite motif-containing 51 134 intracellular zinc ion binding GTGGGCTGCTGAGGAACGCCG 0.478000 7 36 2.0095e-06 2.07554e-06 1 1 0 PICK1 9463 broad.mit.edu 37 22 38470962 38470962 + Silent SNP C C G TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr22:38470962C>G ENST00000404072.3 + 13 1418 c.1071C>G c.(1069-1071)gtC>gtG p.V357V PICK1_ENST00000356976.3_Silent_p.V357V NM_001039583.1|NM_001039584.1 NP_001034672.1|NP_001034673.1 Q9NRD5 PICK1_HUMAN protein interacting with PRKCA 1 357 AH. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 13 Melanoma(58;0.045) ATGCCGACGTCTTCCCCATCG 0.607000 16 59 0 0 1 0 0 CNTNAP3B 728577 broad.mit.edu 37 9 43828112 43828112 + Silent SNP A A G rs150656228 by1000genomes TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr9:43828112A>G ENST00000377564.3 + 9 1761 c.1368A>G c.(1366-1368)gtA>gtG p.V456V NM_001201380.1 NP_001188309.1 Q96NU0 CNT3B_HUMAN contactin associated protein-like 3B 456 Laminin G-like 2. cell adhesion|signal transduction integral to membrane receptor binding central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3) 10 GGCACTCTGTATCCTTCTCTG 0.458000 3 38 0 0 1 0 0 CREBRF 153222 broad.mit.edu 37 5 172517948 172517948 + Missense_Mutation SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr5:172517948C>T ENST00000540014.1 + 4 1085 c.766C>T c.(766-768)Cac>Tac p.H256Y CREBRF_ENST00000296953.2_Missense_Mutation_p.H256Y|CREBRF_ENST00000520420.1_Missense_Mutation_p.H256Y|CREBRF_ENST00000522692.1_Missense_Mutation_p.H256Y Q8IUR6 CE041_HUMAN CREB3 regulatory factor 256 protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity GAGCCAGATTCACACAGATGC 0.468000 14 56 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38854693 38854693 + Nonsense_Mutation SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr6:38854693C>T ENST00000359357.3 + 55 7989 c.7735C>T c.(7735-7737)Cga>Tga p.R2579* DNAH8_ENST00000441566.1_Nonsense_Mutation_p.R2543*|DNAH8_ENST00000449981.2_Nonsense_Mutation_p.R2796* 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 TGGAGGTGGTCGAAATGATAT 0.378000 20 72 0 0 1 0 0 PLCB2 5330 broad.mit.edu 37 15 40594185 40594185 + Silent SNP G G C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr15:40594185G>C ENST00000260402.3 - 7 804 c.555C>G c.(553-555)ctC>ctG p.L185L PLCB2_ENST00000543785.2_Silent_p.L185L|PLCB2_ENST00000456256.2_Silent_p.L185L|PLCB2_ENST00000557821.1_Silent_p.L185L NM_001284297.1|NM_004573.2 NP_001271226.1|NP_004564.2 Q00722 PLCB2_HUMAN phospholipase C, beta 2 185 activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3) 39 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508) GGCAGGCACTGAGAGCAGCTT 0.567000 15 62 0 0 1 0 0 DGKK 139189 broad.mit.edu 37 X 50117981 50117981 + RNA SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chrX:50117981C>T ENST00000376025.2 - 0 3548 Q5KSL6 DGKK_HUMAN diacylglycerol kinase, kappa activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(276;0.236) AGCTTTTCATCCAGGAAAGCT 0.473000 5 26 0 0 1 0 0 ISYNA1 51477 broad.mit.edu 37 19 18547041 18547041 + Missense_Mutation SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr19:18547041G>A ENST00000338128.8 - 7 993 c.776C>T c.(775-777)tCg>tTg p.S259L ISYNA1_ENST00000578963.1_Missense_Mutation_p.S131L|ISYNA1_ENST00000457269.4_Missense_Mutation_p.S205L|ISYNA1_ENST00000545187.1_Missense_Mutation_p.S109L|ISYNA1_ENST00000317018.6_Missense_Mutation_p.S57L NM_001170938.1|NM_016368.4 NP_001164409.1|NP_057452.1 Q9NPH2 INO1_HUMAN inositol-3-phosphate synthase 1 inositol biosynthetic process|phospholipid biosynthetic process cytoplasm binding|inositol-3-phosphate synthase activity breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2) 12 CGTGGAGGGCGACACCTCCAG 0.677000 7 48 0 0 1 0 0 CNKSR3 154043 broad.mit.edu 37 6 154732170 154732170 + Missense_Mutation SNP G G C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr6:154732170G>C ENST00000607772.1 - 11 1721 c.1177C>G c.(1177-1179)Cgg>Ggg p.R393G CNKSR3_ENST00000433165.2_Missense_Mutation_p.R218G|CNKSR3_ENST00000479339.1_Missense_Mutation_p.R313G NM_173515.2 NP_775786.2 Q6P9H4 CNKR3_HUMAN CNKSR family member 3 393 DUF1170. negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport cytoplasm|membrane breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1) 15 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627) CTTCGTCTCCGGCTTTCCTGG 0.483000 14 150 0 0 1 0 0 LGALS9C 654346 broad.mit.edu 37 17 18394613 18394613 + Silent SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr17:18394613G>A ENST00000328114.6 + 7 684 c.603G>A c.(601-603)caG>caA p.Q201Q LGALS9C_ENST00000412421.2_Silent_p.Q113Q|LGALS9C_ENST00000581545.1_Silent_p.Q169Q|LGALS9C_ENST00000583322.1_Silent_p.Q169Q|LGALS9C_ENST00000584941.1_Silent_p.Q157Q NM_001040078.2 NP_001035167.2 Q6DKI2 LEG9C_HUMAN lectin, galactoside-binding, soluble, 9C 201 sugar binding NS(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2) 7 ACACGGTGCAGAGTGCCTCTG 0.542000 30 168 0 0 1 0 0 OR8D1 283159 broad.mit.edu 37 11 124179947 124179947 + Missense_Mutation SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr11:124179947C>T ENST00000357821.2 - 1 786 c.716G>A c.(715-717)gGa>gAa p.G239E NM_001002917.1 NP_001002917.1 Q8WZ84 OR8D1_HUMAN olfactory receptor, family 8, subfamily D, member 1 239 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528) GCTGCATGTTCCAAAAGCTTT 0.517000 17 57 0 0 1 0 0 TENM4 26011 broad.mit.edu 37 11 78399233 78399233 + Missense_Mutation SNP G G T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr11:78399233G>T ENST00000278550.7 - 29 5588 c.5126C>A c.(5125-5127)cCt>cAt p.P1709H NM_001098816.2 NP_001092286.2 teneurin transmembrane protein 4 CTGGCCAGTAGGGAAGGTCAC 0.507000 31 182 2.81731e-10 2.97985e-10 1 1 0 PTPN14 5784 broad.mit.edu 37 1 214567095 214567095 + Missense_Mutation SNP A A C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr1:214567095A>C ENST00000366956.5 - 10 1066 c.872T>G c.(871-873)aTt>aGt p.I291S PTPN14_ENST00000543945.1_3'UTR NM_005401.4 NP_005392.2 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 14 291 FERM. lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) CAACCGAGAAATATACTTGGC 0.343000 20 67 0 0 1 0 0 CHSY1 22856 broad.mit.edu 37 15 101718791 101718791 + Missense_Mutation SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr15:101718791G>A ENST00000254190.3 - 3 1686 c.1211C>T c.(1210-1212)gCc>gTc p.A404V CHSY1_ENST00000543813.1_5'UTR NM_014918.4 NP_055733.2 Q86X52 CHSS1_HUMAN chondroitin sulfate synthase 1 404 chondroitin sulfate biosynthetic process Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1) 24 Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) GTCGTCCAAGGCTTCCCTCTG 0.532000 19 91 0 0 1 0 0 ARHGAP32 9743 broad.mit.edu 37 11 128840032 128840032 + Silent SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr11:128840032C>T ENST00000310343.9 - 22 5033 c.5034G>A c.(5032-5034)ttG>ttA p.L1678L ARHGAP32_ENST00000527272.1_Silent_p.L1329L|ARHGAP32_ENST00000392657.3_Silent_p.L1329L|ARHGAP32_ENST00000524655.1_3'UTR NM_001142685.1 NP_001136157.1 A7KAX9 RHG32_HUMAN Rho GTPase activating protein 32 1678 Interaction with GAB2. cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane GTPase activator activity|phosphatidylinositol binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3) 60 GAAGGGGTCTCAACTGGACTG 0.512000 23 103 0 0 1 0 0 PPFIA3 8541 broad.mit.edu 37 19 49649227 49649227 + Nonsense_Mutation SNP G G T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr19:49649227G>T ENST00000334186.4 + 22 3122 c.2773G>T c.(2773-2775)Gag>Tag p.E925* PPFIA3_ENST00000602351.1_Nonsense_Mutation_p.E925* NM_003660.2 NP_003651.1 O75145 LIPA3_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3 925 cell surface|cytoplasm protein binding NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1) 35 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677) GATGACACACGAGGAGATGGA 0.647000 OREG0025618 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 24 130 1.64293e-13 1.75459e-13 1 1 0 COL11A2 1302 broad.mit.edu 37 6 33142356 33142356 + Splice_Site SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr6:33142356C>T ENST00000341947.2 - 31 2605 c.2378G>A c.(2377-2379)gGc>gAc p.G793D COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000361917.1_Splice_Site_p.G686D|COL11A2_ENST00000374708.4_Splice_Site_p.G707D|COL11A2_ENST00000374713.1_Splice_Site_p.G746D|COL11A2_ENST00000374714.1_Splice_Site_p.G767D|COL11A2_ENST00000374712.1_Splice_Site_p.G712D|COL11A2_ENST00000395197.1_Splice_Site_p.G733D|COL11A2_ENST00000357486.1_Splice_Site_p.G772D NM_080680.2 NP_542411.2 P13942 COBA2_HUMAN collagen, type XI, alpha 2 793 Triple-helical region. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 ACCCAGCTTGCCCTGTGGAGG 0.617000 3 37 0 0 1 0 0 ARHGEF4 50649 broad.mit.edu 37 2 131704110 131704110 + Missense_Mutation SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr2:131704110C>T ENST00000409359.1 + 4 4095 c.2897C>T c.(2896-2898)cCa>cTa p.P966L ARHGEF4_ENST00000428230.2_Missense_Mutation_p.P110L|ARHGEF4_ENST00000409303.1_Missense_Mutation_p.P110L|ARHGEF4_ENST00000392953.3_Missense_Mutation_p.P110L|ARHGEF4_ENST00000525839.1_Missense_Mutation_p.P110L|ARHGEF4_ENST00000326016.5_Missense_Mutation_p.P110L Q9NR80 ARHG4_HUMAN Rho guanine nucleotide exchange factor (GEF) 4 110 apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|ruffle membrane protein domain specific binding|Rac guanyl-nucleotide exchange factor activity NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4) 29 Prostate(154;0.055) BRCA - Breast invasive adenocarcinoma(221;0.097) ATTACCTCTCCAGAGTCTTTG 0.522000 18 129 0 0 1 0 0 POU4F1 5457 broad.mit.edu 37 13 79176005 79176005 + Missense_Mutation SNP C C G TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr13:79176005C>G ENST00000377208.5 - 2 1016 c.805G>C c.(805-807)Gag>Cag p.E269Q RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000607220.1_RNA|RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000606376.1_RNA|RNF219-AS1_ENST00000444769.3_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000606124.1_RNA|RNF219-AS1_ENST00000560209.2_RNA NM_006237.3 NP_006228.3 Q01851 PO4F1_HUMAN POU class 4 homeobox 1 269 POU-specific. axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1) 16 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848) GBM - Glioblastoma multiforme(99;0.129) GCGAACGCCTCGAGCTCGCGC 0.756000 5 23 0 0 1 0 0 IFT172 26160 broad.mit.edu 37 2 27706492 27706492 + Missense_Mutation SNP G G C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr2:27706492G>C ENST00000260570.3 - 6 540 c.437C>G c.(436-438)tCt>tGt p.S146C IFT172_ENST00000359466.6_Missense_Mutation_p.S146C|IFT172_ENST00000416524.2_Missense_Mutation_p.S125C NM_015662.1 NP_056477.1 Q9UG01 IF172_HUMAN intraflagellar transport 172 homolog (Chlamydomonas) 146 cilium assembly cilium binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 43 Acute lymphoblastic leukemia(172;0.155) ATAGATGGTAGATGATTTATT 0.368000 16 47 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179666927 179666927 + Missense_Mutation SNP T T C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr2:179666927T>C ENST00000589042.1 - 3 457 c.233A>G c.(232-234)tAt>tGt p.Y78C TTN_ENST00000342992.6_Missense_Mutation_p.Y78C|TTN_ENST00000359218.5_Missense_Mutation_p.Y78C|TTN_ENST00000460472.2_Missense_Mutation_p.Y78C|TTN_ENST00000360870.5_Missense_Mutation_p.Y78C|TTN_ENST00000342175.6_Missense_Mutation_p.Y78C|TTN_ENST00000591111.1_Missense_Mutation_p.Y78C NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 78 Ig-like 1. 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) TTTCAGGGAATATCGTCCACT 0.562000 21 108 0 0 1 0 0 NDRG2 57447 broad.mit.edu 37 14 21486650 21486650 + Nonsense_Mutation SNP G G C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr14:21486650G>C ENST00000556147.1 - 13 1767 c.827C>G c.(826-828)tCa>tGa p.S276* NDRG2_ENST00000555158.1_Nonsense_Mutation_p.S262*|NDRG2_ENST00000298684.5_Nonsense_Mutation_p.S233*|NDRG2_ENST00000553503.1_Nonsense_Mutation_p.S262*|NDRG2_ENST00000397851.2_Nonsense_Mutation_p.S276*|NDRG2_ENST00000554143.1_Nonsense_Mutation_p.S262*|NDRG2_ENST00000350792.3_Nonsense_Mutation_p.S262*|NDRG2_ENST00000360463.3_Nonsense_Mutation_p.S262*|NDRG2_ENST00000554104.1_Nonsense_Mutation_p.S189*|NDRG2_ENST00000397856.3_Intron|NDRG2_ENST00000397844.2_Intron|NDRG2_ENST00000397847.2_Nonsense_Mutation_p.S265*|NDRG2_ENST00000397853.3_Nonsense_Mutation_p.S276*|NDRG2_ENST00000298687.5_Nonsense_Mutation_p.S276*|NDRG2_ENST00000397855.3_Nonsense_Mutation_p.S233*|NDRG2_ENST00000403829.3_Nonsense_Mutation_p.S272*|NDRG2_ENST00000397858.1_Nonsense_Mutation_p.S276* Q9UN36 NDRG2_HUMAN NDRG family member 2 276 cell differentiation|nervous system development centrosome|cytosol|Golgi apparatus|nucleus|perinuclear region of cytoplasm breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 23 all_cancers(95;0.00185) OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08) GBM - Glioblastoma multiforme(265;0.0191) GTCCAGTTTTGAGTTACATTC 0.577000 8 31 0 0 1 0 0 AGPAT3 56894 broad.mit.edu 37 21 45389127 45389127 + Silent SNP G G A rs115875072 byFrequency TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr21:45389127G>A ENST00000398063.2 + 4 969 c.477G>A c.(475-477)ctG>ctA p.L159L AGPAT3_ENST00000398061.1_Silent_p.L159L|AGPAT3_ENST00000479117.1_3'UTR|AGPAT3_ENST00000291572.8_Silent_p.L159L|AGPAT3_ENST00000546158.1_Silent_p.L159L|AGPAT3_ENST00000327505.2_Silent_p.L159L|AGPAT3_ENST00000398058.1_Silent_p.L159L NM_001037553.1 NP_001032642.1 Q9NRZ7 PLCC_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 3 159 phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane|plasma membrane 1-acylglycerol-3-phosphate O-acyltransferase activity large_intestine(4)|lung(5)|ovary(1)|prostate(1) 11 STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24) TCGAAGGGCTGAGGCGCCTGT 0.632000 29 86 0 0 1 0 0 DOCK4 9732 broad.mit.edu 37 7 111580178 111580178 + Silent SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr7:111580178G>A ENST00000428084.1 - 11 1236 c.964C>T c.(964-966)Ctg>Ttg p.L322L DOCK4_ENST00000437633.1_Silent_p.L322L|DOCK4_ENST00000476846.1_5'UTR Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 322 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) TATACTTTCAGAATGAGGTCA 0.493000 12 67 0 0 1 0 0 TXNIP 10628 broad.mit.edu 37 1 145438895 145438895 + Silent SNP G G C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr1:145438895G>C ENST00000369317.4 + 1 427 c.93G>C c.(91-93)gtG>gtC p.V31V TXNIP_ENST00000475171.1_Intron NM_006472.3 NP_006463.3 Q9H3M7 TXNIP_HUMAN thioredoxin interacting protein 31 cell cycle|keratinocyte differentiation|transcription, DNA-dependent ubiquitin protein ligase binding breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 21 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) CTGGCCGGGTGATAGTGGAGG 0.517000 7 91 0 0 1 0 0 PRICKLE2 166336 broad.mit.edu 37 3 64132828 64132828 + Silent SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr3:64132828G>A ENST00000295902.6 - 7 1923 c.1338C>T c.(1336-1338)ttC>ttT p.F446F PRICKLE2_ENST00000564377.1_Silent_p.F502F NM_198859.3 NP_942559.1 Q7Z3G6 PRIC2_HUMAN prickle homolog 2 (Drosophila) 446 cytoplasm|nuclear membrane zinc ion binding breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1) 32 Lung NSC(201;0.136) BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497) TGGGGTTGCTGAAGTGCTTGC 0.582000 30 79 0 0 1 0 0 SPTBN1 6711 broad.mit.edu 37 2 54870186 54870186 + Missense_Mutation SNP C C G TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr2:54870186C>G ENST00000333896.5 + 18 4271 c.3886C>G c.(3886-3888)Ctg>Gtg p.L1296V SPTBN1_ENST00000356805.4_Missense_Mutation_p.L1309V NM_178313.2 NP_842565.2 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 1309 actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 82 Lung(47;0.24) AGCCAGAAATCTGCACAGTAA 0.413000 18 92 0 0 1 0 0 ACY3 91703 broad.mit.edu 37 11 67414351 67414351 + Missense_Mutation SNP G G C rs145934175 TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr11:67414351G>C ENST00000255082.3 - 3 334 c.164C>G c.(163-165)cCg>cGg p.P55R ACY3_ENST00000529256.1_5'UTR NM_080658.1 NP_542389.1 Q96HD9 ACY3_HUMAN aspartoacylase (aminocyclase) 3 55 interspecies interaction between organisms apical plasma membrane|cytoplasm hydrolase activity, acting on ester bonds|metal ion binding endometrium(1)|lung(5)|prostate(2) 8 L-Aspartic Acid(DB00128) TGTGGCTGCCGGGTTGGCCAG 0.662000 8 24 0 0 1 0 0 PLVAP 83483 broad.mit.edu 37 19 17476791 17476791 + Silent SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr19:17476791C>T ENST00000252590.4 - 3 544 c.483G>A c.(481-483)ctG>ctA p.L161L NM_031310.1 NP_112600.1 Q9BX97 PLVAP_HUMAN plasmalemma vesicle associated protein 161 caveola|integral to membrane|perinuclear region of cytoplasm cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 CCTTCTGATTCAGCATGAAGA 0.572000 12 58 0 0 1 0 0 PCDHA11 56138 broad.mit.edu 37 5 140250913 140250913 + Missense_Mutation SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr5:140250913G>A ENST00000398640.2 + 1 2225 c.2225G>A c.(2224-2226)cGc>cAc p.R742H PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron NM_018902.3 NP_061725.1 breast(1)|lung(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGTGCTCCCGCGCGGTGGGG 0.677000 15 56 0 0 1 0 0 ALG1 56052 broad.mit.edu 37 16 5123174 5123174 + Missense_Mutation SNP T T C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr16:5123174T>C ENST00000262374.5 + 3 338 c.307T>C c.(307-309)Tac>Cac p.Y103H ALG1_ENST00000588623.1_5'UTR|ALG1_ENST00000544428.1_5'UTR NM_019109.4 NP_061982.3 Q9BT22 ALG1_HUMAN ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase 103 dolichol-linked oligosaccharide biosynthetic process|lipopolysaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane chitobiosyldiphosphodolichol beta-mannosyltransferase activity breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Ovarian(90;0.0164) AGTTTTCCAGTACGGAGTCAA 0.517000 15 50 0 0 1 0 0 FHDC1 85462 broad.mit.edu 37 4 153864366 153864366 + Missense_Mutation SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr4:153864366G>A ENST00000511601.1 + 2 345 c.157G>A c.(157-159)Gag>Aag p.E53K FHDC1_ENST00000260008.3_Missense_Mutation_p.E53K Q9C0D6 FHDC1_HUMAN FH2 domain containing 1 53 actin cytoskeleton organization actin binding ARFIP1/FHDC1(2) NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 43 all_hematologic(180;0.093) TTCAAGGGAAGAGTGTCCTTC 0.607000 6 18 0 0 1 0 0 NCOA7 135112 broad.mit.edu 37 6 126210736 126210736 + Silent SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr6:126210736C>T ENST00000368357.3 + 10 1888 c.1536C>T c.(1534-1536)aaC>aaT p.N512N NCOA7_ENST00000392477.2_Silent_p.N512N|NCOA7_ENST00000229634.9_Silent_p.N397N NM_001199619.1|NM_001199620.1 NP_001186548.1|NP_001186549.1 Q8NI08 NCOA7_HUMAN nuclear receptor coactivator 7 512 cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2) 39 UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237) ACACACTGAACATACATGAAG 0.388000 14 63 0 0 1 0 0 NDUFA13 51079 broad.mit.edu 37 19 19640241 19640241 + Missense_Mutation SNP C C G TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr19:19640241C>G ENST00000512771.3 + 6 504 c.494C>G c.(493-495)tCc>tGc p.S165C CTC-260F20.3_ENST00000555938.1_Intron|YJEFN3_ENST00000436027.5_Intron|CTC-260F20.3_ENST00000586674.1_3'UTR|YJEFN3_ENST00000514277.4_Missense_Mutation_p.S43C|YJEFN3_ENST00000608404.1_Intron NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1) 12 GCTACCACCTCCCTTGTCCAG 0.597000 9 44 0 0 1 0 0 HUNK 30811 broad.mit.edu 37 21 33371331 33371331 + Missense_Mutation SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr21:33371331G>A ENST00000270112.2 + 11 2339 c.1979G>A c.(1978-1980)cGa>cAa p.R660Q NM_014586.1 NP_055401.1 P57058 HUNK_HUMAN hormonally up-regulated Neu-associated kinase 660 multicellular organismal development|signal transduction ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1) 30 GTGAAAAGCCGAGGCCGGTTC 0.612000 16 97 0 0 1 0 0 XIST 7503 broad.mit.edu 37 X 73070139 73070139 + RNA SNP G G C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chrX:73070139G>C ENST00000429829.1 - 0 2449 NR_001564.2 AATTTGTAATGAGAAGCTAAA 0.259000 5 27 0 0 1 0 0 ZC2HC1A 51101 broad.mit.edu 37 8 79609675 79609675 + Missense_Mutation SNP C C G TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr8:79609675C>G ENST00000263849.4 + 6 640 c.538C>G c.(538-540)Cct>Gct p.P180A ZC2HC1A_ENST00000521176.1_3'UTR NM_016010.2 NP_057094.2 Q96GY0 F164A_HUMAN zinc finger, C2HC-type containing 1A 180 GTCAAATTCTCCTGGAACTGC 0.368000 9 55 0 0 1 0 0 CD69 969 broad.mit.edu 37 12 9913402 9913402 + Silent SNP A A G rs149884332 by1000genomes TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr12:9913402A>G ENST00000228434.3 - 1 95 c.15T>C c.(13-15)aaT>aaC p.N5N CD69_ENST00000536709.1_Silent_p.N5N NM_001781.2 NP_001772.1 Q07108 CD69_HUMAN CD69 molecule 5 integral to plasma membrane sugar binding|transmembrane receptor activity endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1) 10 CTACGAAACAATTTTCAGAGC 0.408000 14 88 0 0 1 0 0 FRG1B 284802 broad.mit.edu 37 20 29625970 29625970 + Missense_Mutation SNP C C G TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr20:29625970C>G ENST00000278882.3 + 5 594 c.214C>G c.(214-216)Cca>Gca p.P72A FRG1B_ENST00000439954.2_Missense_Mutation_p.P77A|FRG1B_ENST00000358464.4_Missense_Mutation_p.P72A endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ACAATGGGAACCAGTCTTTCA 0.333000 7 103 0 0 1 0 0 TAF12 6883 broad.mit.edu 37 1 28931969 28931969 + Missense_Mutation SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr1:28931969C>T ENST00000263974.4 - 5 799 c.365G>A c.(364-366)cGc>cAc p.R122H TAF12_ENST00000471683.1_5'UTR|TAF12_ENST00000373824.4_Missense_Mutation_p.R122H NM_001135218.1 NP_001128690.1 Q16514 TAF12_HUMAN TAF12 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 20kDa 122 histone H3 acetylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction PCAF complex|STAGA complex|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|transcription coactivator activity ovary(1)|upper_aerodigestive_tract(1) 2 Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Renal(390;0.00121)|Breast(348;0.00502)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123) Colorectal(126;3.21e-08)|COAD - Colon adenocarcinoma(152;1.74e-06)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(1967;0.0109)|BRCA - Breast invasive adenocarcinoma(304;0.0228)|READ - Rectum adenocarcinoma(331;0.0649) GTTCCACTGGCGCTCTGCAAG 0.512000 14 80 0 0 1 0 0 LRRC43 254050 broad.mit.edu 37 12 122670812 122670812 + Missense_Mutation SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr12:122670812G>A ENST00000339777.4 + 3 515 c.487G>A c.(487-489)Gag>Aag p.E163K LRRC43_ENST00000425921.1_5'UTR NM_152759.4 NP_689972.3 Q8N309 LRC43_HUMAN leucine rich repeat containing 43 163 NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2) 19 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225) TCGAATCAAGGAGGTGGATGC 0.562000 3 11 0 0 1 0 0 KMT2A 4297 broad.mit.edu 37 11 118382708 118382708 + Nonsense_Mutation SNP C C G TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr11:118382708C>G ENST00000534358.1 + 31 11137 c.11114C>G c.(11113-11115)tCa>tGa p.S3705* RP11-770J1.3_ENST00000532597.1_RNA|KMT2A_ENST00000389506.5_Nonsense_Mutation_p.S3702*|KMT2A_ENST00000354520.4_Nonsense_Mutation_p.S3664* NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A GAAGCTCGATCAAATGCCCGC 0.428000 7 38 0 0 1 0 0 ADAM17 6868 broad.mit.edu 37 2 9637283 9637283 + Silent SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr2:9637283G>A ENST00000310823.3 - 14 1925 c.1743C>T c.(1741-1743)ttC>ttT p.F581F NM_003183.4 NP_003174.3 P78536 ADA17_HUMAN ADAM metallopeptidase domain 17 581 Cys-rich. B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1) 28 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.225) CCCTCTCGCAGAAAGGGATGC 0.507000 31 79 0 0 1 0 0 ATP1B2 482 broad.mit.edu 37 17 7557218 7557218 + Missense_Mutation SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr17:7557218G>A ENST00000250111.4 + 3 708 c.301G>A c.(301-303)Gaa>Aaa p.E101K NM_001678.3 NP_001669.3 P14415 AT1B2_HUMAN ATPase, Na+/K+ transporting, beta 2 polypeptide 101 ATP biosynthetic process|blood coagulation|leukocyte migration integral to membrane|plasma membrane protein binding|sodium:potassium-exchanging ATPase activity p.0?(2)|p.?(1) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|pancreas(1) 10 all_cancers(10;0.000178)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;2.55e-06)|READ - Rectum adenocarcinoma(115;0.168) CAGTGACACTGAAAGCTGGGA 0.498000 19 84 0 0 1 0 0 SCNN1A 6337 broad.mit.edu 37 12 6484078 6484078 + Nonsense_Mutation SNP C C A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr12:6484078C>A ENST00000360168.3 - 1 312 c.49G>T c.(49-51)Gag>Tag p.E17* SCNN1A_ENST00000543768.1_Intron|SCNN1A_ENST00000538979.1_Intron|SCNN1A_ENST00000358945.3_5'UTR|SCNN1A_ENST00000228916.2_Intron NM_001159576.1 NP_001153048.1 P37088 SCNNA_HUMAN sodium channel, non-voltage-gated 1 alpha subunit 22 excretion|response to stimulus|sensory perception of taste apical plasma membrane WW domain binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 27 Amiloride(DB00594)|Triamterene(DB00384) TGAGTGCCCTCTCCCATCACC 0.652000 4 21 0.00024832 0.000252919 1 1 0 GLRA2 2742 broad.mit.edu 37 X 14550396 14550396 + Missense_Mutation SNP G G C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chrX:14550396G>C ENST00000218075.4 + 2 634 c.104G>C c.(103-105)gGa>gCa p.G35A GLRA2_ENST00000443437.2_5'UTR|GLRA2_ENST00000355020.4_Missense_Mutation_p.G35A NM_002063.3 NP_002054.1 P23416 GLRA2_HUMAN glycine receptor, alpha 2 35 neuropeptide signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2) 37 Hepatocellular(33;0.128) Ethanol(DB00898)|Glycine(DB00145) TCCAGGTCTGGAAAACAACCT 0.413000 21 78 0 0 1 0 0 PREX2 80243 broad.mit.edu 37 8 68956794 68956794 + Silent SNP G G C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr8:68956794G>C ENST00000288368.4 + 8 1189 c.912G>C c.(910-912)gtG>gtC p.V304V 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 2 304 PH. 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 ACACGGAGGTGATGGAAGTGG 0.413000 13 120 0 0 1 0 0 ARHGAP44 9912 broad.mit.edu 37 17 12819241 12819241 + Missense_Mutation SNP G G C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr17:12819241G>C ENST00000379672.5 + 5 600 c.300G>C c.(298-300)gaG>gaC p.E100D ARHGAP44_ENST00000262444.9_Missense_Mutation_p.E100D|ARHGAP44_ENST00000340825.3_Missense_Mutation_p.E100D NM_014859.4 NP_055674.4 Q17R89 RHG44_HUMAN Rho GTPase activating protein 44 100 BAR. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1) 31 TCTGTGGAGAGACGGAGGACA 0.493000 12 27 0 0 1 0 0 MYT1 4661 broad.mit.edu 37 20 62836958 62836958 + Missense_Mutation SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr20:62836958G>A ENST00000536311.1 + 6 566 c.202G>A c.(202-204)Gag>Aag p.E68K MYT1_ENST00000328439.1_Missense_Mutation_p.E68K|MYT1_ENST00000360149.4_Missense_Mutation_p.E68K Q01538 MYT1_HUMAN myelin transcription factor 1 68 cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) CGCTGAGGCTGAGCACCTGGT 0.622000 15 74 0 0 1 0 0 AMPD3 272 broad.mit.edu 37 11 10514903 10514903 + Missense_Mutation SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr11:10514903C>T ENST00000444303.2 + 6 942 c.470C>T c.(469-471)aCa>aTa p.T157I AMPD3_ENST00000396554.3_Missense_Mutation_p.T325I NM_001172431.1 NP_001165902.1 Q01432 AMPD3_HUMAN adenosine monophosphate deaminase 3 316 AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1) 25 all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291) CAGGTGGACACACACATCCAT 0.577000 44 160 0 0 1 0 0 MKX 283078 broad.mit.edu 37 10 28032225 28032225 + Silent SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr10:28032225G>A ENST00000375790.5 - 2 552 c.120C>T c.(118-120)cgC>cgT p.R40R MKX_ENST00000419761.1_Silent_p.R40R Q8IYA7 MKX_HUMAN mohawk homeobox 40 R -> H (in dbSNP:rs34439626). muscle organ development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2) 16 CCACCTCGGGGCGGGCGTGAG 0.726000 10 33 0 0 1 0 0 CACNA1A 773 broad.mit.edu 37 19 13476201 13476201 + Silent SNP A A G TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr19:13476201A>G ENST00000360228.5 - 5 713 c.714T>C c.(712-714)ctT>ctC p.L238L CACNA1A_ENST00000573710.2_Silent_p.L238L NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2 NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2 O00555 CAC1A_HUMAN calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 238 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) TTGCAAAAATAAGGATTGCAA 0.458000 14 95 0 0 1 0 0 GRM3 2913 broad.mit.edu 37 7 86394792 86394792 + Nonsense_Mutation SNP G G T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr7:86394792G>T ENST00000361669.2 + 2 1430 c.331G>T c.(331-333)Gag>Tag p.E111* GRM3_ENST00000546348.1_Intron|GRM3_ENST00000536043.1_Intron|GRM3_ENST00000439827.1_Nonsense_Mutation_p.E111*|GRM3_ENST00000394720.2_Nonsense_Mutation_p.E109* NM_000840.2 NP_000831.2 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 111 synaptic transmission integral to plasma membrane NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) GCAATCACTGGAGTTTGTCAG 0.418000 5 182 1.23904e-05 1.26785e-05 1 1 0 NUMB 8650 broad.mit.edu 37 14 73753886 73753886 + Missense_Mutation SNP C C G TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr14:73753886C>G ENST00000556772.1 - 3 2442 c.155G>C c.(154-156)cGt>cCt p.R52P NUMB_ENST00000359560.3_Missense_Mutation_p.R185P|NUMB_ENST00000559312.1_Missense_Mutation_p.R196P|NUMB_ENST00000544991.3_Missense_Mutation_p.R196P|NUMB_ENST00000555738.2_Missense_Mutation_p.R185P|NUMB_ENST00000555394.1_Missense_Mutation_p.R196P|NUMB_ENST00000557597.1_Missense_Mutation_p.R185P|NUMB_ENST00000554521.2_Missense_Mutation_p.R185P|NUMB_ENST00000554546.1_Missense_Mutation_p.R185P|NUMB_ENST00000560335.1_Missense_Mutation_p.R196P|NUMB_ENST00000555238.1_Missense_Mutation_p.R196P|NUMB_ENST00000355058.3_Missense_Mutation_p.R196P|NUMB_ENST00000356296.4_Missense_Mutation_p.R196P|NUMB_ENST00000535282.1_Missense_Mutation_p.R185P|NUMB_ENST00000454166.4_Missense_Mutation_p.R196P P49757 NUMB_HUMAN numb homolog (Drosophila) 196 PID. axon guidance|lateral ventricle development|neuroblast division in subventricular zone|positive regulation of neurogenesis integral to plasma membrane breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1) 28 BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161) TGTTGTGACACGGAATGATCC 0.448000 14 83 0 0 1 0 0 FGD1 2245 broad.mit.edu 37 X 54496484 54496484 + Missense_Mutation SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chrX:54496484G>A ENST00000375135.3 - 4 1799 c.1066C>T c.(1066-1068)Cca>Tca p.P356S NM_004463.2 NP_004454.2 P98174 FGD1_HUMAN FYVE, RhoGEF and PH domain containing 1 356 actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 AGGGGCACTGGGATTTCTCTG 0.597000 9 33 0 0 1 0 0 UBR4 23352 broad.mit.edu 37 1 19487443 19487443 + Missense_Mutation SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr1:19487443C>T ENST00000375267.2 - 38 5377 c.5374G>A c.(5374-5376)Gta>Ata p.V1792I UBR4_ENST00000375254.3_Missense_Mutation_p.V1792I|UBR4_ENST00000375217.2_Missense_Mutation_p.V1792I|UBR4_ENST00000375226.2_Missense_Mutation_p.V1792I Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 1792 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) CAGCCCTCTACTGTGCGGCAG 0.542000 7 46 0 0 1 0 0 C11orf80 79703 broad.mit.edu 37 11 66605889 66605889 + Missense_Mutation SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr11:66605889G>A ENST00000360962.4 + 15 1727 c.1720G>A c.(1720-1722)Gat>Aat p.D574N C11orf80_ENST00000540737.1_Missense_Mutation_p.D408N|C11orf80_ENST00000525449.2_Missense_Mutation_p.D382N|C11orf80_ENST00000532565.2_Missense_Mutation_p.D356N|C11orf80_ENST00000527634.1_Missense_Mutation_p.D357N|C11orf80_ENST00000346672.4_Missense_Mutation_p.D383N NM_024650.3 NP_078926.3 Q8N6T0 CK080_HUMAN chromosome 11 open reading frame 80 419 autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 14 GGACGCACCTGATAACAGCAG 0.443000 11 58 0 0 1 0 0 CNBD1 168975 broad.mit.edu 37 8 88218312 88218312 + Silent SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr8:88218312C>T ENST00000518476.1 + 5 574 c.523C>T c.(523-525)Ctg>Ttg p.L175L CNBD1_ENST00000522427.1_3'UTR NM_173538.2 NP_775809.1 Q8NA66 CNBD1_HUMAN cyclic nucleotide binding domain containing 1 175 breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1) 32 TGATAAGCATCTGAAAACACT 0.398000 5 30 0 0 1 0 0 MAGEA8 4107 broad.mit.edu 37 X 149013352 149013352 + Silent SNP T T C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chrX:149013352T>C ENST00000535454.1 + 4 855 c.306T>C c.(304-306)gcT>gcC p.A102A MAGEA8_ENST00000542674.1_Silent_p.A102A|MAGEA8_ENST00000286482.1_Silent_p.A102A NM_001166400.1 NP_001159872.1 P43361 MAGA8_HUMAN melanoma antigen family A, 8 102 NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1) 20 Acute lymphoblastic leukemia(192;6.56e-05) CGGACCCAGCTCACCTGGAGT 0.557000 30 145 0 0 1 0 0 KIAA0947 23379 broad.mit.edu 37 5 5464640 5464640 + Silent SNP C C G TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr5:5464640C>G ENST00000296564.7 + 13 5415 c.5193C>G c.(5191-5193)ctC>ctG p.L1731L NM_015325.2 NP_056140.1 Q9Y2F5 K0947_HUMAN KIAA0947 1731 Pro-rich. breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1) 35 CTGGCCGACTCCCACCCTGTG 0.597000 7 47 0 0 1 0 0 C10orf25 220979 broad.mit.edu 37 10 45496299 45496299 + Silent SNP C C A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr10:45496299C>A ENST00000298298.1 - 1 37 c.9G>T c.(7-9)ccG>ccT p.P3P ZNF22_ENST00000298299.3_5'UTR NM_001039380.2 NP_001034469.2 Q5T742 CJ025_HUMAN chromosome 10 open reading frame 25 3 extracellular region endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1) 6 CGGGTGGGCCCGGGACCATAG 0.672000 4 8 1 1 1 1 0 PRF1 5551 broad.mit.edu 37 10 72358594 72358594 + Missense_Mutation SNP T T C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr10:72358594T>C ENST00000441259.1 - 3 1043 c.883A>G c.(883-885)Acc>Gcc p.T295A PRF1_ENST00000373209.2_Missense_Mutation_p.T295A NM_001083116.1|NM_005041.4 NP_001076585.1|NP_005032.2 P14222 PERF_HUMAN perforin 1 (pore forming protein) 295 MACPF. apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane calcium ion binding|protein binding|wide pore channel activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3) 23 TCCCGGTAGGTTTGGTGGAAG 0.607000 M """various leukaemia, lymphoma""" Type 2 familial hemophagocytic lymphohistiocytosis Familial Hemophagocytic Lymphohistiocytosis 27 73 0 0 1 0 0 GGT3P 2679 broad.mit.edu 37 22 18769145 18769145 + RNA SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr22:18769145G>A ENST00000412448.1 - 0 1141 TGAGGCTGCCGTTGTAGAAGG 0.612000 6 37 0 0 1 0 0 NUP210L 91181 broad.mit.edu 37 1 154112367 154112367 + Missense_Mutation SNP C C G TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr1:154112367C>G ENST00000368559.3 - 5 699 c.628G>C c.(628-630)Gag>Cag p.E210Q NUP210L_ENST00000271854.3_Missense_Mutation_p.E210Q NM_207308.2 NP_997191.2 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like 210 integral to membrane NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2) 80 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) TGTTTCTCCTCTTTTTCCATC 0.338000 105 243 0 0 1 0 0 KMT2B 9757 broad.mit.edu 37 19 36221656 36221656 + Nonsense_Mutation SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr19:36221656G>A ENST00000420124.1 + 26 5325 c.5325G>A c.(5323-5325)tgG>tgA p.W1775* KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000222270.7_Nonsense_Mutation_p.W1775* lysine (K)-specific methyltransferase 2B GGCGCTGCTGGTATCGGTGCC 0.597000 11 70 0 0 1 0 0 BAG5 9529 broad.mit.edu 37 14 104027261 104027261 + Missense_Mutation SNP C C G TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr14:104027261C>G ENST00000445922.2 - 2 487 c.241G>C c.(241-243)Gag>Cag p.E81Q BAG5_ENST00000337322.4_Missense_Mutation_p.E122Q|RP11-894P9.2_ENST00000556332.1_RNA|BAG5_ENST00000299204.4_Missense_Mutation_p.E81Q NM_004873.3 NP_004864.1 Q9UL15 BAG5_HUMAN BCL2-associated athanogene 5 81 BAG 1. apoptosis|negative regulation of protein refolding|negative regulation of ubiquitin-protein ligase activity|neuron death|protein folding|regulation of inclusion body assembly inclusion body|perinuclear region of cytoplasm chaperone binding|ubiquitin protein ligase binding endometrium(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2) 24 Melanoma(154;0.155) Epithelial(46;0.144) TGCTCCAACTCTTTGAGAAGA 0.428000 24 109 0 0 1 0 0 ARHGAP35 2909 broad.mit.edu 37 19 47440647 47440647 + Nonsense_Mutation SNP G G T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr19:47440647G>T ENST00000404338.3 + 2 3808 c.3808G>T c.(3808-3810)Gag>Tag p.E1270* NM_004491.4 NP_004482.4 Q9NRY4 RHG35_HUMAN Rho GTPase activating protein 35 1270 Rho-GAP. axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol DNA binding|Rho GTPase activator activity|transcription corepressor activity AAGATGTATTGAGTACATTGA 0.433000 16 65 2.94398e-08 3.05508e-08 1 1 0 KEAP1 9817 broad.mit.edu 37 19 10610363 10610363 + Missense_Mutation SNP C C G TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr19:10610363C>G ENST00000171111.5 - 2 894 c.347G>C c.(346-348)cGg>cCg p.R116P KEAP1_ENST00000393623.2_Missense_Mutation_p.R116P NM_203500.1 NP_987096.1 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 116 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 92 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) GCCCTGCTCCCGCAGCCCGTT 0.612000 11 58 0 0 1 0 0 TACC2 10579 broad.mit.edu 37 10 123846852 123846852 + Missense_Mutation SNP G G T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr10:123846852G>T ENST00000369005.1 + 4 5177 c.4837G>T c.(4837-4839)Gat>Tat p.D1613Y TACC2_ENST00000515603.1_Missense_Mutation_p.D1613Y|TACC2_ENST00000515273.1_Missense_Mutation_p.D1613Y|TACC2_ENST00000334433.3_Missense_Mutation_p.D1613Y|TACC2_ENST00000453444.2_Missense_Mutation_p.D1613Y|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000513429.1_Intron NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 1613 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) ACATGGAGAAGATGGTCCCGG 0.582000 22 69 4.35082e-09 4.5364e-09 1 1 0 TXNIP 10628 broad.mit.edu 37 1 145439609 145439609 + Silent SNP G G C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr1:145439609G>C ENST00000369317.4 + 2 601 c.267G>C c.(265-267)gtG>gtC p.V89V TXNIP_ENST00000475171.1_Intron NM_006472.3 NP_006463.3 Q9H3M7 TXNIP_HUMAN thioredoxin interacting protein 89 cell cycle|keratinocyte differentiation|transcription, DNA-dependent ubiquitin protein ligase binding breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 21 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) ATGAGATGGTGATCATGAGAC 0.403000 17 131 0 0 1 0 0 SEL1L3 23231 broad.mit.edu 37 4 25836912 25836912 + Missense_Mutation SNP G G C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr4:25836912G>C ENST00000399878.3 - 3 889 c.767C>G c.(766-768)tCc>tGc p.S256C SEL1L3_ENST00000513364.1_5'UTR|SEL1L3_ENST00000264868.5_Missense_Mutation_p.S221C|SEL1L3_ENST00000502949.1_Missense_Mutation_p.S103C NM_015187.3 NP_056002.2 Q68CR1 SE1L3_HUMAN sel-1 suppressor of lin-12-like 3 (C. elegans) 256 integral to membrane binding breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2) 14 TTCTCCACTGGAGGCATAAGG 0.488000 26 100 0 0 1 0 0 LINC00691 152024 broad.mit.edu 37 3 24138674 24138674 + RNA SNP T T G TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr3:24138674T>G ENST00000436123.1 - 0 2049 TTGCCTCTGCTTCAACAATGT 0.418000 3 10 0 0 1 0 0 SCRIB 23513 broad.mit.edu 37 8 144886946 144886946 + Missense_Mutation SNP A A T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr8:144886946A>T ENST00000356994.2 - 21 2807 c.2801T>A c.(2800-2802)cTg>cAg p.L934Q SCRIB_ENST00000320476.3_Missense_Mutation_p.L934Q|SCRIB_ENST00000377533.3_Missense_Mutation_p.L853Q NM_182706.4 NP_874365 Q14160 SCRIB_HUMAN scribbled planar cell polarity protein 934 Interaction with ARHGEF7.|PDZ 2. activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction cell-cell adherens junction|Scrib-APC-beta-catenin complex protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 42 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) AGCGGTCAGCAGGGAGACGGC 0.662000 4 22 0 0 1 0 0 COCH 1690 broad.mit.edu 37 14 31354171 31354171 + Missense_Mutation SNP G G C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr14:31354171G>C ENST00000382493.4 + 3 310 c.210G>C c.(208-210)caG>caC p.Q70H RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000396618.3_Intron|COCH_ENST00000475087.1_Intron|COCH_ENST00000216361.4_Intron|COCH_ENST00000460581.2_Intron|RP11-829H16.3_ENST00000555421.1_RNA O43405 COCH_HUMAN cochlin 244 LCCL. sensory perception of sound proteinaceous extracellular matrix central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3) 19 Hepatocellular(127;0.0877)|Breast(36;0.148) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805) GBM - Glioblastoma multiforme(265;0.00645) AAAATCAACAGACTTATCTAA 0.358000 20 60 0 0 1 0 0 GOLIM4 27333 broad.mit.edu 37 3 167750586 167750586 + Missense_Mutation SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr3:167750586C>T ENST00000470487.1 - 9 1587 c.898G>A c.(898-900)Gaa>Aaa p.E300K GOLIM4_ENST00000309027.4_Missense_Mutation_p.E272K NM_014498.3 NP_055313.1 O00461 GOLI4_HUMAN golgi integral membrane protein 4 300 transport cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 TTTGTGTCTTCTGCTCTTCCA 0.483000 57 78 0 0 1 0 0 RFX3 5991 broad.mit.edu 37 9 3330299 3330299 + Missense_Mutation SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr9:3330299C>T ENST00000382004.3 - 5 745 c.434G>A c.(433-435)gGt>gAt p.G145D RFX3_ENST00000358730.2_Missense_Mutation_p.G145D|RFX3_ENST00000302303.1_Missense_Mutation_p.G145D NM_001282116.1|NM_134428.1 NP_001269045.1|NP_602304.1 P48380 RFX3_HUMAN regulatory factor X, 3 (influences HLA class II expression) 145 cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion nuclear chromatin protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337) CACTGAGTGACCAGAATTCTC 0.458000 7 63 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49444142 49444142 + Nonsense_Mutation SNP T T A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr12:49444142T>A ENST00000301067.7 - 11 3228 c.3229A>T c.(3229-3231)Aaa>Taa p.K1077* NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D TCTGAAACTTTCTCAGTCTCC 0.617000 5 24 0 0 1 0 0 SIK2 23235 broad.mit.edu 37 11 111558772 111558772 + Nonsense_Mutation SNP A A T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr11:111558772A>T ENST00000304987.3 + 4 537 c.364A>T c.(364-366)Aaa>Taa p.K122* NM_015191.1 NP_056006.1 Q9H0K1 SIK2_HUMAN salt-inducible kinase 2 122 Protein kinase. intracellular protein kinase cascade|regulation of insulin receptor signaling pathway Golgi apparatus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 30 AGCCAGGCGAAAATTCTGGCA 0.403000 13 56 0 0 1 0 0 GPLD1 2822 broad.mit.edu 37 6 24429286 24429286 + Missense_Mutation SNP G G C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr6:24429286G>C ENST00000230036.1 - 25 2607 c.2497C>G c.(2497-2499)Cac>Gac p.H833D NM_001503.3 NP_001494.2 P80108 PHLD_HUMAN glycosylphosphatidylinositol specific phospholipase D1 833 extracellular region glycosylphosphatidylinositol phospholipase D activity breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 32 CTATAGACGTGAAGTGCCCCG 0.488000 8 48 0 0 1 0 0 PIAS3 10401 broad.mit.edu 37 1 145584822 145584822 + Missense_Mutation SNP C C A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr1:145584822C>A ENST00000393045.2 + 13 1696 c.1606C>A c.(1606-1608)Cag>Aag p.Q536K PIAS3_ENST00000369298.1_Missense_Mutation_p.Q501K NM_006099.3 NP_006090.2 Q9Y6X2 PIAS3_HUMAN protein inhibitor of activated STAT, 3 536 positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2) 28 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TTCATTTCTTCAGACAGAGAG 0.423000 30 76 7.11191e-15 7.63229e-15 1 1 0 HKDC1 80201 broad.mit.edu 37 10 71002944 71002944 + Missense_Mutation SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr10:71002944G>A ENST00000354624.5 + 7 831 c.698G>A c.(697-699)gGc>gAc p.G233D HKDC1_ENST00000395086.2_Missense_Mutation_p.G233D NM_025130.3 NP_079406 Q2TB90 HKDC1_HUMAN hexokinase domain containing 1 233 glycolysis mitochondrion|nucleus ATP binding|hexokinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 TCAGGAACTGGCACCAATGCG 0.562000 21 114 0 0 1 0 0 GIN1 54826 broad.mit.edu 37 5 102432327 102432327 + Silent SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr5:102432327C>T ENST00000399004.2 - 7 1306 c.1212G>A c.(1210-1212)ctG>ctA p.L404L GIN1_ENST00000508629.1_Intron NM_017676.2 NP_060146.2 Q9NXP7 GIN1_HUMAN gypsy retrotransposon integrase 1 404 DNA integration DNA binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283) Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794) TGTTGTCTCTCAGGACAGCAC 0.413000 47 179 0 0 1 0 0 ARID2 196528 broad.mit.edu 37 12 46125015 46125015 + Nonsense_Mutation SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr12:46125015C>T ENST00000334344.6 + 3 374 c.202C>T c.(202-204)Cag>Tag p.Q68* ARID2_ENST00000422737.1_5'UTR NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 68 ARID. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) TGAGAAGAATCAGTGGGGAGA 0.378000 """N, S, F""" hepatocellular carcinoma 16 64 0 0 1 0 0 SENP8 123228 broad.mit.edu 37 15 72432366 72432366 + Missense_Mutation SNP G G C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr15:72432366G>C ENST00000544411.1 + 3 889 c.402G>C c.(400-402)gaG>gaC p.E134D SENP8_ENST00000542035.2_Missense_Mutation_p.E134D|SENP8_ENST00000544171.1_Missense_Mutation_p.E134D|SENP8_ENST00000340912.4_Missense_Mutation_p.E134D NM_001172109.1|NM_001172110.1 NP_001165580.1|NP_001165581.1 Q96LD8 SENP8_HUMAN SUMO/sentrin specific peptidase family member 8 134 Protease. proteolysis cysteine-type peptidase activity|protein binding breast(1)|kidney(2)|lung(1)|ovary(1)|skin(1) 6 AGGTAGCAGAGAAACTGGAGG 0.453000 11 74 0 0 1 0 0 NUP153 9972 broad.mit.edu 37 6 17675190 17675190 + Silent SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr6:17675190G>A ENST00000262077.2 - 5 797 c.798C>T c.(796-798)taC>taT p.Y266Y NUP153_ENST00000537253.1_Silent_p.Y266Y NM_005124.2 NP_005115.2 P49790 NU153_HUMAN nucleoporin 153kDa 266 carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm DNA binding|protein binding|transporter activity|zinc ion binding NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2) 53 Breast(50;0.0259)|Ovarian(93;0.0584) all_hematologic(90;0.125) all cancers(50;0.0981)|Epithelial(50;0.112) CTGCCCCACCGTATGTTGTTT 0.373000 17 60 0 0 1 0 0 PAMR1 25891 broad.mit.edu 37 11 35454248 35454248 + Missense_Mutation SNP C C T rs148541461 TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr11:35454248C>T ENST00000378880.2 - 11 2264 c.1819G>A c.(1819-1821)Gtg>Atg p.V607M PAMR1_ENST00000532848.1_Missense_Mutation_p.V567M|PAMR1_ENST00000378878.3_Missense_Mutation_p.V496M|PAMR1_ENST00000278360.3_Missense_Mutation_p.V624M NM_001001991.1 NP_001001991.1 Q6UXH9 PAMR1_HUMAN peptidase domain containing associated with muscle regeneration 1 607 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 26 GGGCTCCTCACGTCTGCCAGG 0.617000 10 56 0 0 1 0 0 MFSD11 79157 broad.mit.edu 37 17 74774374 74774374 + Silent SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr17:74774374C>T ENST00000588460.1 + 13 3332 c.1290C>T c.(1288-1290)ttC>ttT p.F430F MFSD11_ENST00000336509.4_Silent_p.F430F|MFSD11_ENST00000355954.3_Silent_p.F378F|MFSD11_ENST00000593181.1_Silent_p.F378F|MFSD11_ENST00000586622.1_Silent_p.F430F|MFSD11_ENST00000590070.1_3'UTR|MFSD11_ENST00000590514.1_Silent_p.F430F NM_001242534.1 NP_001229463.1 O43934 MFS11_HUMAN major facilitator superfamily domain containing 11 430 integral to membrane endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1) 17 TTTCTTTCTTCACTGTGGAAT 0.498000 11 81 0 0 1 0 0 KIAA1984 84960 broad.mit.edu 37 9 139698986 139698986 + Missense_Mutation SNP C C G TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr9:139698986C>G ENST00000338005.6 + 7 734 c.699C>G c.(697-699)atC>atG p.I233M KIAA1984_ENST00000371682.3_3'UTR|KIAA1984-AS1_ENST00000414656.1_RNA|RP11-216L13.18_ENST00000471502.1_RNA|RP11-216L13.19_ENST00000415992.1_RNA NM_001039374.4 NP_001034463.4 Q5T5S1 K1984_HUMAN KIAA1984 233 biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 13 all_cancers(76;0.0882)|all_epithelial(76;0.228) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124) CGTCCTTCATCGAGGAGCGCC 0.602000 30 43 0 0 1 0 0 DMRTA2 63950 broad.mit.edu 37 1 50884577 50884577 + Silent SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr1:50884577G>A ENST00000404795.3 - 3 1781 c.1389C>T c.(1387-1389)ctC>ctT p.L463L DMRTA2_ENST00000418121.1_Silent_p.L463L NM_032110.2 NP_115486.1 Q96SC8 DMTA2_HUMAN DMRT-like family A2 463 Ala-rich. sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity endometrium(1)|lung(4)|pancreas(1) 6 GCAGGGGGCTGAGGCCGAGCG 0.756000 6 6 0 0 1 0 0 ZNF660 285349 broad.mit.edu 37 3 44635868 44635868 + Missense_Mutation SNP G G C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr3:44635868G>C ENST00000322734.2 + 3 516 c.183G>C c.(181-183)caG>caC p.Q61H RP11-944L7.4_ENST00000457331.1_RNA NM_173658.2 NP_775929.2 Q6AZW8 ZN660_HUMAN zinc finger protein 660 61 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(2)|lung(4) 6 KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585) CCTTTAGTCAGAGTGCAAACC 0.438000 14 42 0 0 1 0 0 CROCCP2 84809 broad.mit.edu 37 1 16953703 16953703 + RNA SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr1:16953703G>A ENST00000412962.1 - 0 558 GCAGCGTGGCGCGGCTCAGCG 0.637000 6 100 0 0 1 0 0 MYBPC2 4606 broad.mit.edu 37 19 50939937 50939937 + Missense_Mutation SNP G G C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr19:50939937G>C ENST00000357701.5 + 5 460 c.409G>C c.(409-411)Gag>Cag p.E137Q NM_004533.3 NP_004524.3 Q14324 MYPC2_HUMAN myosin binding protein C, fast type 137 Ig-like C2-type 1. cell adhesion|muscle filament sliding cytosol|myosin filament actin binding|structural constituent of muscle breast(1) 1 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144) TTACCGCCTCGAGGTCAAAGC 0.612000 24 115 0 0 1 0 0 GOLGA1 2800 broad.mit.edu 37 9 127642825 127642825 + Missense_Mutation SNP C C T rs146171341 by1000genomes TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr9:127642825C>T ENST00000373555.4 - 23 2621 c.2288G>A c.(2287-2289)cGg>cAg p.R763Q NM_002077.3 NP_002068 Q92805 GOGA1_HUMAN golgin A1 763 Golgi cisterna membrane NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1) 20 CCATGGTATCCGAGGGTTTGA 0.502000 23 169 0 0 1 0 0 ZFYVE26 23503 broad.mit.edu 37 14 68228128 68228128 + Silent SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr14:68228128C>T ENST00000347230.4 - 35 6681 c.6543G>A c.(6541-6543)gtG>gtA p.V2181V ZFYVE26_ENST00000555452.1_Silent_p.V2181V|ZFYVE26_ENST00000557306.1_Silent_p.V27V NM_015346.3 NP_056161.2 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 2181 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 94 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) AGCTGTGCCTCACGTAGAAGC 0.517000 6 24 0 0 1 0 0 SENP7 57337 broad.mit.edu 37 3 101060534 101060534 + Silent SNP T T C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr3:101060534T>C ENST00000394095.2 - 15 2249 c.2196A>G c.(2194-2196)ccA>ccG p.P732P SENP7_ENST00000394094.2_Silent_p.P667P|SENP7_ENST00000314261.7_Silent_p.P666P|SENP7_ENST00000358203.3_Silent_p.P568P|SENP7_ENST00000394091.1_Silent_p.P568P|SENP7_ENST00000348610.3_Silent_p.P699P NM_001282802.1|NM_020654.3 NP_001269731.1|NP_065705.3 Q9BQF6 SENP7_HUMAN SUMO1/sentrin specific peptidase 7 732 proteolysis nucleus cysteine-type peptidase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 ATTCTTCATCTGGATTAGATG 0.433000 28 38 0 0 1 0 0 IRF2BP1 26145 broad.mit.edu 37 19 46387808 46387808 + Missense_Mutation SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr19:46387808C>T ENST00000302165.3 - 1 1568 c.1225G>A c.(1225-1227)Ggc>Agc p.G409S NM_015649.1 NP_056464.1 Q8IU81 I2BP1_HUMAN interferon regulatory factor 2 binding protein 1 409 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus cervix(1)|kidney(1)|lung(2) 4 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231) TACGGGCCGCCGGGTGCCACC 0.721000 10 53 0 0 1 0 0 RARA 5914 broad.mit.edu 37 17 38498963 38498963 + Missense_Mutation SNP G G C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr17:38498963G>C ENST00000394081.3 + 1 349 c.7G>C c.(7-9)Gag>Cag p.E3Q RARA_ENST00000394089.2_Intron|RARA_ENST00000394086.3_Intron|RARA_ENST00000425707.3_Intron|RARA_ENST00000254066.5_Intron|CTD-2267D19.2_ENST00000581080.1_RNA NM_001024809.3 NP_001019980.1 P10276 RARA_HUMAN retinoic acid receptor, alpha 0 Modulating. apoptotic cell clearance|cellular response to estrogen stimulus|cellular response to retinoic acid|estrogen receptor signaling pathway|negative regulation of granulocyte differentiation|negative regulation of interferon-gamma production|negative regulation of tumor necrosis factor production|positive regulation of binding|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-5 production|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus cytoplasm|nucleoplasm chromatin DNA binding|enzyme binding|protein domain specific binding|protein heterodimerization activity|receptor binding|retinoic acid binding|retinoic acid receptor activity|retinoic acid-responsive element binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding breast(1)|kidney(4)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|urinary_tract(2) 16 Breast(137;0.00328) STAD - Stomach adenocarcinoma(5;0.00143) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799) AAAGATGTACGAGAGTGTAGA 0.632000 T """PML, ZNF145, TIF1, NUMA1, NPM1""" APL 21 101 0 0 1 0 0 OLFM3 118427 broad.mit.edu 37 1 102312479 102312479 + Missense_Mutation SNP C C G TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr1:102312479C>G ENST00000338858.5 - 1 50 c.51G>C c.(49-51)atG>atC p.M17I OLFM3_ENST00000462354.1_Intron|OLFM3_ENST00000370103.4_Intron|OLFM3_ENST00000359814.3_Missense_Mutation_p.M17I Q96PB7 NOE3_HUMAN olfactomedin 3 17 extracellular region breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2) 43 all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189) all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145) AGTTTGAGATCATTGCCATGG 0.507000 24 91 0 0 1 0 0 SEMA4G 57715 broad.mit.edu 37 10 102738085 102738085 + Missense_Mutation SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr10:102738085G>A ENST00000210633.3 + 5 547 c.469G>A c.(469-471)Gag>Aag p.E157K SEMA4G_ENST00000370250.4_Missense_Mutation_p.E157K|SEMA4G_ENST00000519756.1_3'UTR|SEMA4G_ENST00000517724.1_Missense_Mutation_p.E157K|MRPL43_ENST00000318325.2_3'UTR Q9NTN9 SEM4G_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G 157 Sema. cell differentiation|nervous system development integral to membrane receptor activity breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 Colorectal(252;0.234) Epithelial(162;3.71e-09)|all cancers(201;2.1e-07) AACCAGCTTCGAGGAGGGGAA 0.532000 5 10 0 0 1 0 0 MFF 56947 broad.mit.edu 37 2 228195544 228195544 + Missense_Mutation SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr2:228195544G>A ENST00000353339.3 + 4 682 c.241G>A c.(241-243)Gag>Aag p.E81K MFF_ENST00000409565.1_Missense_Mutation_p.E55K|MFF_ENST00000524634.1_Intron|MFF_ENST00000392059.1_Missense_Mutation_p.E81K|MFF_ENST00000337110.7_Missense_Mutation_p.E55K|MFF_ENST00000304593.9_Missense_Mutation_p.E55K|MFF_ENST00000354503.6_Missense_Mutation_p.E55K|MFF_ENST00000476924.1_Intron|MFF_ENST00000349901.7_Missense_Mutation_p.E55K|MFF_ENST00000409616.1_Missense_Mutation_p.E55K NM_001277061.1 NP_001263990.1 Q9GZY8 MFF_HUMAN mitochondrial fission factor 81 integral to membrane|mitochondrial outer membrane breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2) 21 GCAAGTTCCGGAGAGGATTGT 0.388000 9 29 0 0 1 0 0 ARVCF 421 broad.mit.edu 37 22 19960805 19960805 + Missense_Mutation SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr22:19960805G>A ENST00000263207.3 - 14 2566 c.2275C>T c.(2275-2277)Cgc>Tgc p.R759C ARVCF_ENST00000344269.3_Missense_Mutation_p.R696C|ARVCF_ENST00000406259.1_Missense_Mutation_p.R753C|ARVCF_ENST00000406522.1_Missense_Mutation_p.R690C|ARVCF_ENST00000401994.1_Missense_Mutation_p.R696C NM_001670.2 NP_001661.1 O00192 ARVC_HUMAN armadillo repeat gene deleted in velocardiofacial syndrome 759 cell adhesion|multicellular organismal development protein binding NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2) 13 Colorectal(54;0.0993) TGTGCATTGCGCACATTCCGC 0.637000 5 20 0 0 1 0 0 FAM169A 26049 broad.mit.edu 37 5 74077445 74077445 + Missense_Mutation SNP G G C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr5:74077445G>C ENST00000389156.4 - 13 1943 c.1853C>G c.(1852-1854)tCt>tGt p.S618C FAM169A_ENST00000510496.1_Missense_Mutation_p.S558C|FAM169A_ENST00000380515.3_3'UTR NM_015566.2 NP_056381.1 Q9Y6X4 F169A_HUMAN family with sequence similarity 169, member A 618 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1) 27 TTGCTCGGAAGATGCTTCAGA 0.468000 21 134 0 0 1 0 0 MEPCE 56257 broad.mit.edu 37 7 100028509 100028509 + Missense_Mutation SNP C C A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr7:100028509C>A ENST00000310512.2 + 1 1256 c.868C>A c.(868-870)Ctc>Atc p.L290I MEPCE_ENST00000414441.1_5'UTR NM_019606.5 NP_062552.2 Q7L2J0 MEPCE_HUMAN methylphosphate capping enzyme 290 methyltransferase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 24 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CACAGCCCCTCTCACCCCCTT 0.667000 36 102 4.34311e-12 4.61586e-12 1 1 0 NFASC 23114 broad.mit.edu 37 1 204953164 204953164 + Missense_Mutation SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr1:204953164C>T ENST00000367172.4 + 22 2808 c.2480C>T c.(2479-2481)gCt>gTt p.A827V NFASC_ENST00000539706.1_Missense_Mutation_p.A823V|NFASC_ENST00000339876.6_Intron|NFASC_ENST00000404907.1_Missense_Mutation_p.A823V|NFASC_ENST00000367169.4_Intron|NFASC_ENST00000367171.4_Missense_Mutation_p.A812V|NFASC_ENST00000338515.6_Missense_Mutation_p.A827V|NFASC_ENST00000338586.6_Missense_Mutation_p.A827V|NFASC_ENST00000404076.1_Missense_Mutation_p.A806V|NFASC_ENST00000360049.4_Missense_Mutation_p.A823V|NFASC_ENST00000401399.1_Intron|NFASC_ENST00000367170.4_Missense_Mutation_p.A827V|NFASC_ENST00000513543.1_Missense_Mutation_p.A823V O94856 NFASC_HUMAN neurofascin 827 Fibronectin type-III 3. axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 81 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) GATCCCAGGGCTGCGCCCACT 0.562000 13 32 0 0 1 0 0 CPAMD8 27151 broad.mit.edu 37 19 17088246 17088246 + Missense_Mutation SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr19:17088246C>T ENST00000443236.1 - 15 1862 c.1831G>A c.(1831-1833)Gtc>Atc p.V611I CPAMD8_ENST00000388925.4_Intron NM_015692.2 NP_056507.2 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain containing 8 564 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 TTCTCCCTGACGTAGAAGACC 0.592000 16 94 0 0 1 0 0 MRPL23 6150 broad.mit.edu 37 11 1977518 1977518 + Silent SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr11:1977518G>A ENST00000397298.3 + 5 415 c.330G>A c.(328-330)ctG>ctA p.L110L MRPL23_ENST00000397297.3_Intron|MRPL23_ENST00000381514.3_Intron|MRPL23_ENST00000381519.1_Silent_p.L110L|MRPL23_ENST00000397294.3_Intron NM_021134.3 NP_066957.3 Q16540 RM23_HUMAN mitochondrial ribosomal protein L23 110 translation mitochondrial large ribosomal subunit nucleotide binding|RNA binding|structural constituent of ribosome large_intestine(2)|lung(1)|ovary(1) 4 all_epithelial(84;6.24e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.0026)|Lung(200;0.0171)|LUSC - Lung squamous cell carcinoma(625;0.0842) TCCCAGATCTGTTTCCCGAGA 0.622000 24 167 0 0 1 0 0 VIPR2 7434 broad.mit.edu 37 7 158935195 158935195 + Nonsense_Mutation SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr7:158935195G>A ENST00000262178.2 - 2 279 c.94C>T c.(94-96)Cag>Tag p.Q32* VIPR2_ENST00000421760.2_Nonsense_Mutation_p.Q32*|VIPR2_ENST00000402066.1_Nonsense_Mutation_p.Q173* NM_003382.4 NP_003373.2 P41587 VIPR2_HUMAN vasoactive intestinal peptide receptor 2 32 cell-cell signaling integral to plasma membrane central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1) 22 Ovarian(565;0.152) all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603) OV - Ovarian serous cystadenocarcinoma(82;0.00231) UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18) TCTTCCTCCTGTATTTCCAGA 0.398000 23 99 0 0 1 0 0 MYO18B 84700 broad.mit.edu 37 22 26193971 26193971 + Missense_Mutation SNP A A G TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr22:26193971A>G ENST00000335473.7 + 12 2678 c.2428A>G c.(2428-2430)Atg>Gtg p.M810V MYO18B_ENST00000407587.2_Missense_Mutation_p.M810V|MYO18B_ENST00000536101.1_Missense_Mutation_p.M810V NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 810 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 CCAGGGTGCCATGGAGATGCT 0.617000 6 128 0 0 1 0 0 CHSY1 22856 broad.mit.edu 37 15 101718791 101718791 + Missense_Mutation SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr15:101718791G>A ENST00000254190.3 - 3 1686 c.1211C>T c.(1210-1212)gCc>gTc p.A404V CHSY1_ENST00000543813.1_5'UTR NM_014918.4 NP_055733.2 Q86X52 CHSS1_HUMAN chondroitin sulfate synthase 1 404 chondroitin sulfate biosynthetic process Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1) 24 Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) GTCGTCCAAGGCTTCCCTCTG 0.532000 19 91 0 0 1 0 0 DOCK11 139818 broad.mit.edu 37 X 117814457 117814457 + Missense_Mutation SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chrX:117814457G>A ENST00000276204.6 + 49 5547 c.5473G>A c.(5473-5475)Gag>Aag p.E1825K DOCK11_ENST00000276202.7_Missense_Mutation_p.E1825K Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 1825 DHR-2. blood coagulation cytosol GTP binding breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 84 AAATGCCAAAGAGCTTGATCC 0.289000 13 66 0 0 1 0 0 P4HB 5034 broad.mit.edu 37 17 79803505 79803505 + Missense_Mutation SNP C C G TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr17:79803505C>G ENST00000331483.4 - 9 1513 c.1291G>C c.(1291-1293)Gag>Cag p.E431Q P4HB_ENST00000439918.2_Missense_Mutation_p.E387Q|P4HB_ENST00000576390.1_Intron NM_000918.3 NP_000909.2 P07237 PDIA1_HUMAN prolyl 4-hydroxylase, beta polypeptide 431 Thioredoxin 2. cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1) 22 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509) GCCTCCACCTCGTTGGCAGTC 0.582000 4 25 0 0 1 0 0 CTD-2066L21.3 0 broad.mit.edu 37 5 33162692 33162692 + RNA SNP A A T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr5:33162692A>T ENST00000510327.1 - 0 346 GGAAGAAGAGATTTTAAACAA 0.473000 4 18 0 0 1 0 0 PLCG2 5336 broad.mit.edu 37 16 81888168 81888168 + Missense_Mutation SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr16:81888168G>A ENST00000359376.3 + 3 527 c.313G>A c.(313-315)Gtc>Atc p.V105I PLCG2_ENST00000565400.1_3'UTR NM_002661.3 NP_002652.2 P16885 PLCG2_HUMAN phospholipase C, gamma 2 (phosphatidylinositol-specific) 105 PH. intracellular signal transduction|phospholipid catabolic process|platelet activation plasma membrane phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 58 CACTCAGTTCGTCCTCAGCAC 0.498000 35 121 0 0 1 0 0 ANO4 121601 broad.mit.edu 37 12 101333128 101333128 + Missense_Mutation SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr12:101333128G>A ENST00000392979.3 + 3 452 c.91G>A c.(91-93)Gaa>Aaa p.E31K ANO4_ENST00000538618.1_Missense_Mutation_p.E232K|ANO4_ENST00000392977.3_Missense_Mutation_p.E66K|ANO4_ENST00000299222.9_5'UTR NM_178826.3 NP_849148.2 Q32M45 ANO4_HUMAN anoctamin 4 66 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 TGATGAATTAGAAGCTGTCAG 0.413000 HNSCC(74;0.22) 26 74 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228473945 228473945 + Silent SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr1:228473945C>T ENST00000570156.2 + 39 10532 c.10458C>T c.(10456-10458)ccC>ccT p.P3486P OBSCN_ENST00000359599.6_Silent_p.P1904P|OBSCN_ENST00000422127.1_Silent_p.P3057P|OBSCN_ENST00000366709.4_Silent_p.P176P|OBSCN_ENST00000366707.4_Silent_p.P176P|OBSCN_ENST00000284548.11_Silent_p.P3057P NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 2519 Ig-like 35. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) ATGCCCAGCCCGGGGGCTACC 0.667000 6 26 0 0 1 0 0 LONRF2 164832 broad.mit.edu 37 2 100903457 100903457 + Missense_Mutation SNP C C G TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr2:100903457C>G ENST00000393437.3 - 11 2628 c.1989G>C c.(1987-1989)tgG>tgC p.W663C LONRF2_ENST00000409647.1_Missense_Mutation_p.W420C NM_198461.3 NP_940863.3 Q1L5Z9 LONF2_HUMAN LON peptidase N-terminal domain and ring finger 2 663 Lon. proteolysis ATP-dependent peptidase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 34 GAGACGCGAACCAGGAAACAG 0.498000 10 67 0 0 1 0 0 LIN54 132660 broad.mit.edu 37 4 83905979 83905979 + Missense_Mutation SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr4:83905979C>T ENST00000340417.3 - 2 396 c.19G>A c.(19-21)Gag>Aag p.E7K LIN54_ENST00000442461.2_Missense_Mutation_p.E7K|LIN54_ENST00000395282.2_Missense_Mutation_p.E7K|LIN54_ENST00000506560.1_Missense_Mutation_p.E7K|LIN54_ENST00000395283.2_Missense_Mutation_p.E7K|LIN54_ENST00000505397.1_Missense_Mutation_p.E7K|LIN54_ENST00000446851.2_Missense_Mutation_p.E7K|LIN54_ENST00000510557.1_Missense_Mutation_p.E7K NM_194282.2 NP_919258.2 Q6MZP7 LIN54_HUMAN lin-54 homolog (C. elegans) 7 cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5) 14 Hepatocellular(203;0.114) CTATTCACCTCAGCTGGCACC 0.393000 42 104 0 0 1 0 0 DTX1 1840 broad.mit.edu 37 12 113532886 113532886 + Missense_Mutation SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr12:113532886G>A ENST00000257600.3 + 7 1929 c.1426G>A c.(1426-1428)Ggg>Agg p.G476R DTX1_ENST00000547974.1_3'UTR NM_004416.2 NP_004407.2 Q86Y01 DTX1_HUMAN deltex homolog 1 (Drosophila) 476 negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter cytoplasm|nucleus Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 32 GGCCATCTACGGGGAGAAGAC 0.652000 14 82 0 0 1 0 0 P4HB 5034 broad.mit.edu 37 17 79804359 79804359 + Silent SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr17:79804359C>T ENST00000331483.4 - 7 1224 c.1002G>A c.(1000-1002)ctG>ctA p.L334L P4HB_ENST00000439918.2_Silent_p.L290L|P4HB_ENST00000576390.1_Intron NM_000918.3 NP_000909.2 P07237 PDIA1_HUMAN prolyl 4-hydroxylase, beta polypeptide 334 cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1) 22 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509) TCTCTGCCGTCAGCTCCTCCG 0.632000 28 129 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178936095 178936095 + Missense_Mutation SNP A A G TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr3:178936095A>G ENST00000263967.3 + 10 1794 c.1637A>G c.(1636-1638)cAg>cGg p.Q546R NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 546 PI3K helical. Q -> E (in cancer).|Q -> K (in cancer).|Q -> P (in cancer).|Q -> R (in cancer). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.Q546R(30)|p.Q546P(18)|p.Q546L(5) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) ATCACTGAGCAGGAGAAAGAT 0.363000 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 27 32 0 0 1 0 0 CACNA1I 8911 broad.mit.edu 37 22 40030684 40030684 + Missense_Mutation SNP C C A rs61417992 TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr22:40030684C>A ENST00000336649.4 + 7 695 c.695C>A c.(694-696)gCg>gAg p.A232E CACNA1I_ENST00000400164.3_Missense_Mutation_p.A232E|CACNA1I_ENST00000401624.1_Missense_Mutation_p.A232E|CACNA1I_ENST00000407673.1_Missense_Mutation_p.A232E|CACNA1I_ENST00000402142.3_Missense_Mutation_p.A232E|CACNA1I_ENST00000404898.1_Missense_Mutation_p.A232E Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, alpha 1I subunit 232 axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) CAGCTCTGGGCGGGCCTGCTG 0.562000 21 134 3.62473e-10 3.82244e-10 1 1 0 RAB20 55647 broad.mit.edu 37 13 111176499 111176499 + Missense_Mutation SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr13:111176499G>A ENST00000267328.3 - 2 431 c.218C>T c.(217-219)gCg>gTg p.A73V NM_017817.1 NP_060287.1 Q9NX57 RAB20_HUMAN RAB20, member RAS oncogene family 73 protein transport|small GTPase mediated signal transduction Golgi apparatus GTP binding endometrium(2)|large_intestine(2)|lung(3) 7 all_cancers(4;1.54e-11)|all_epithelial(4;1.22e-06)|all_lung(23;1e-05)|Lung NSC(43;0.000453)|Colorectal(4;0.00323)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.197) GATGGCGGCCGCCCCCCGGCA 0.607000 29 81 0 0 1 0 0 MANEA 79694 broad.mit.edu 37 6 96053848 96053848 + Missense_Mutation SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr6:96053848G>A ENST00000358812.4 + 5 1090 c.956G>A c.(955-957)gGa>gAa p.G319E MANEA_ENST00000474553.1_3'UTR NM_024641.3 NP_078917.2 Q5SRI9 MANEA_HUMAN mannosidase, endo-alpha 319 Catalytic (Probable). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane glycoprotein endo-alpha-1,2-mannosidase activity breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341) BRCA - Breast invasive adenocarcinoma(108;0.148) GGTTTTGATGGAATTTACACA 0.338000 10 40 0 0 1 0 0 TBC1D2 55357 broad.mit.edu 37 9 100991351 100991351 + Missense_Mutation SNP C C G TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr9:100991351C>G ENST00000375066.5 - 5 952 c.861G>C c.(859-861)caG>caC p.Q287H TBC1D2_ENST00000342112.5_Missense_Mutation_p.Q69H|TBC1D2_ENST00000493589.2_5'UTR|TBC1D2_ENST00000375064.1_Missense_Mutation_p.Q287H NM_018421.3 NP_060891.3 Q9BYX2 TBD2A_HUMAN TBC1 domain family, member 2 287 cell junction|cytoplasmic membrane-bounded vesicle|nucleus Rab GTPase activator activity breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;2.55e-37) AGGTGTTGTTCTGGCGCTTGG 0.532000 14 89 0 0 1 0 0 TRIB3 57761 broad.mit.edu 37 20 377161 377161 + Missense_Mutation SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr20:377161G>A ENST00000217233.3 + 4 1457 c.904G>A c.(904-906)Gaa>Aaa p.E302K TRIB3_ENST00000422053.2_Missense_Mutation_p.E329K NM_021158.3 NP_066981.2 Q96RU7 TRIB3_HUMAN tribbles pseudokinase 3 302 Protein kinase. apoptosis|cellular lipid metabolic process|insulin receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fatty acid biosynthetic process|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein binding|positive regulation of ubiquitin-protein ligase activity|regulation of glucose transport|regulation of MAP kinase activity|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent cytosol|nucleus|plasma membrane ATP binding|protein kinase activity|protein kinase binding|protein kinase inhibitor activity|transcription corepressor activity|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|skin(1) 21 all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231) Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112) GGAGCCAGCTGAACGGCTCAC 0.687000 17 101 0 0 1 0 0 MDC1 9656 broad.mit.edu 37 6 30675515 30675515 + Silent SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr6:30675515C>T ENST00000376406.3 - 8 3488 c.2841G>A c.(2839-2841)caG>caA p.Q947Q MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Intron NM_014641.2 NP_055456.2 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 947 Missing (in Ref. 2; CAH18685). cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|kidney(1)|ovary(1) 4 GCTCCCCTCTCTGTGTATCTC 0.592000 Other conserved DNA damage response genes 24 98 0 0 1 0 0 FMOD 2331 broad.mit.edu 37 1 203316731 203316731 + Missense_Mutation SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr1:203316731C>T ENST00000354955.4 - 2 1131 c.668G>A c.(667-669)cGg>cAg p.R223Q FMOD_ENST00000493296.1_Intron NM_002023.4 NP_002014.2 Q06828 FMOD_HUMAN fibromodulin 223 transforming growth factor beta receptor complex assembly extracellular space|proteinaceous extracellular matrix breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 17 BRCA - Breast invasive adenocarcinoma(75;0.171) GATCAGTGACCGGAGGCCCCT 0.567000 72 189 0 0 1 0 0 SETDB1 9869 broad.mit.edu 37 1 150923371 150923371 + Missense_Mutation SNP A A G TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr1:150923371A>G ENST00000271640.5 + 13 2208 c.2018A>G c.(2017-2019)tAt>tGt p.Y673C SETDB1_ENST00000368969.4_Missense_Mutation_p.Y673C|SETDB1_ENST00000459773.1_Intron NM_001145415.1|NM_012432.3 NP_001138887.1|NP_036564.3 Q15047 SETB1_HUMAN SET domain, bifurcated 1 673 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|Golgi apparatus|nucleus|plasma membrane DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 12 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211) TTTCAGCCCTATAAGCCTTTT 0.463000 35 83 0 0 1 0 0 ANKRD52 283373 broad.mit.edu 37 12 56647181 56647181 + Missense_Mutation SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr12:56647181C>T ENST00000267116.7 - 10 1112 c.991G>A c.(991-993)Gag>Aag p.E331K NM_173595.3 NP_775866.2 Q8NB46 ANR52_HUMAN ankyrin repeat domain 52 331 protein binding endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1) 29 CAATCAATCTCGCTGCCTGTG 0.532000 17 72 0 0 1 0 0 ARHGAP44 9912 broad.mit.edu 37 17 12819326 12819326 + Missense_Mutation SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr17:12819326G>A ENST00000379672.5 + 5 685 c.385G>A c.(385-387)Gag>Aag p.E129K ARHGAP44_ENST00000340825.3_Missense_Mutation_p.E129K|ARHGAP44_ENST00000262444.9_Missense_Mutation_p.E129K NM_014859.4 NP_055674.4 Q17R89 RHG44_HUMAN Rho GTPase activating protein 44 129 BAR. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1) 31 TTTGCTGGCGGAGGTAAGCAG 0.512000 8 26 0 0 1 0 0 BEST3 144453 broad.mit.edu 37 12 70070717 70070717 + Silent SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr12:70070717G>A ENST00000330891.5 - 7 1072 c.846C>T c.(844-846)ttC>ttT p.F282F BEST3_ENST00000331471.4_Silent_p.F282F|BEST3_ENST00000476098.1_Intron|BEST3_ENST00000553096.1_Silent_p.F176F|BEST3_ENST00000488961.1_Intron NM_001282613.1|NM_032735.2 NP_001269542.1|NP_116124.2 Q8N1M1 BEST3_HUMAN bestrophin 3 282 chloride channel complex|plasma membrane chloride channel activity cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2) 12 Breast(13;2.31e-06)|Esophageal squamous(21;0.187) Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694) CTGCATAGAAGAAGAATTGTA 0.473000 28 147 0 0 1 0 0 COX7B2 170712 broad.mit.edu 37 4 46737107 46737107 + Missense_Mutation SNP G G C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr4:46737107G>C ENST00000396533.1 - 4 353 c.103C>G c.(103-105)Cat>Gat p.H35D COX7B2_ENST00000302930.5_Missense_Mutation_p.H35D|COX7B2_ENST00000355591.3_Missense_Mutation_p.H35D|COX7B2_ENST00000543208.1_Missense_Mutation_p.H34D Q8TF08 CX7B2_HUMAN cytochrome c oxidase subunit VIIb2 35 integral to membrane|mitochondrial respiratory chain cytochrome-c oxidase activity large_intestine(1)|lung(4) 5 TATTTATCATGAAAATCTGGT 0.423000 8 76 0 0 1 0 0 PLVAP 83483 broad.mit.edu 37 19 17487766 17487766 + Missense_Mutation SNP C C T rs144117840 TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr19:17487766C>T ENST00000252590.4 - 1 393 c.332G>A c.(331-333)cGc>cAc p.R111H NM_031310.1 NP_112600.1 Q9BX97 PLVAP_HUMAN plasmalemma vesicle associated protein 111 caveola|integral to membrane|perinuclear region of cytoplasm cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 GGCATTGATGCGGTCCAGGTC 0.637000 12 66 0 0 1 0 0 ANKHD1 54882 broad.mit.edu 37 5 139838425 139838425 + Missense_Mutation SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr5:139838425G>A ENST00000297183.6 + 8 1582 c.1458G>A c.(1456-1458)atG>atA p.M486I ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.M486I|ANKHD1_ENST00000394723.3_Missense_Mutation_p.M486I|ANKHD1_ENST00000394722.3_Missense_Mutation_p.M475I|ANKHD1_ENST00000360839.2_Missense_Mutation_p.M486I NM_020690.5 NP_065741.3 ankyrin repeat and KH domain containing 1 breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATGAAGAAATGGTGGCACTAC 0.398000 11 79 0 0 1 0 0 TMPRSS6 164656 broad.mit.edu 37 22 37465272 37465272 + Missense_Mutation SNP C C G TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr22:37465272C>G ENST00000381792.2 - 16 2094 c.1954G>C c.(1954-1956)Gaa>Caa p.E652Q TMPRSS6_ENST00000346753.3_Missense_Mutation_p.E661Q|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.E652Q|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.E652Q Q8IU80 TMPS6_HUMAN transmembrane protease, serine 6 661 Peptidase S1. angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis integral to membrane|intracellular|plasma membrane serine-type endopeptidase activity breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3) 40 CTGTCCTCTTCGTGGTACGGG 0.692000 4 21 0 0 1 0 0 VAPA 9218 broad.mit.edu 37 18 9931810 9931810 + Missense_Mutation SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr18:9931810C>T ENST00000400000.2 + 2 338 c.83C>T c.(82-84)cCc>cTc p.P28L VAPA_ENST00000584796.1_3'UTR|VAPA_ENST00000340541.4_Missense_Mutation_p.P28L NM_003574.5|NM_194434.2 NP_003565.4|NP_919415.2 Q9P0L0 VAPA_HUMAN VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa 28 MSP. cell death|cellular membrane fusion|neuron projection development|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein localization in endoplasmic reticulum|sphingolipid metabolic process endoplasmic reticulum membrane|integral to membrane|plasma membrane|vesicle protein heterodimerization activity|signal transducer activity|structural molecule activity breast(1)|lung(2)|prostate(1) 4 TTTACAGGCCCCTTCACAGAT 0.333000 21 88 0 0 1 0 0 STRIP1 85369 broad.mit.edu 37 1 110581817 110581817 + Silent SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr1:110581817C>T ENST00000369795.3 + 4 371 c.349C>T c.(349-351)Ctg>Ttg p.L117L STRIP1_ENST00000369796.1_Silent_p.L22L|STRIP1_ENST00000369794.2_Silent_p.L117L NM_033088.3 NP_149079.2 striatin interacting protein 1 GTGGACTGAGCTGGATACCAA 0.517000 13 46 0 0 1 0 0 CREB3L2 64764 broad.mit.edu 37 7 137590506 137590506 + Missense_Mutation SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr7:137590506G>A ENST00000330387.6 - 6 1208 c.857C>T c.(856-858)cCc>cTc p.P286L CREB3L2_ENST00000456390.1_Missense_Mutation_p.P286L NM_194071.3 NP_919047.2 Q70SY1 CR3L2_HUMAN cAMP responsive element binding protein 3-like 2 286 chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein endoplasmic reticulum membrane|integral to membrane|nucleus cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity FUS/CREB3L2(158) breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 19 TTTTGACAGGGGCAATTTGGT 0.522000 T FUS fibromyxoid sarcoma 34 161 0 0 1 0 0 ZIC2 7546 broad.mit.edu 37 13 100637717 100637717 + Silent SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr13:100637717G>A ENST00000376335.3 + 3 1673 c.1380G>A c.(1378-1380)gcG>gcA p.A460A ZIC2_ENST00000477213.1_3'UTR NM_007129.3 NP_009060.2 O95409 ZIC2_HUMAN Zic family member 2 460 Poly-Ala. brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception cytoplasm|nucleus chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) cggcggcagcggcggcggcgg 0.816000 3 24 0 0 1 0 0 PKHD1 5314 broad.mit.edu 37 6 51524597 51524597 + Missense_Mutation SNP T T C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr6:51524597T>C ENST00000371117.3 - 61 10602 c.10327A>G c.(10327-10329)Agt>Ggt p.S3443G NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 3443 cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) GCATTTACACTGCTAAAGACA 0.413000 27 101 0 0 1 0 0 AFAP1 60312 broad.mit.edu 37 4 7770734 7770734 + Splice_Site SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr4:7770734G>A ENST00000420658.1 - 17 2527 c.2255C>T c.(2254-2256)tCt>tTt p.S752F AFAP1_ENST00000382543.3_Splice_Site_p.S752F|AFAP1_ENST00000513842.1_5'UTR|AFAP1-AS1_ENST00000608442.1_RNA|AFAP1_ENST00000358461.2_Splice_Site_p.S668F|AFAP1_ENST00000360265.4_Splice_Site_p.S668F NM_001134647.1 NP_001128119.1 Q8N556 AFAP1_HUMAN actin filament associated protein 1 668 actin cytoskeleton|cytoplasm|focal adhesion actin binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2) 32 GAACACTGGAGACTTAACGGA 0.547000 32 175 0 0 1 0 0 TLR7 51284 broad.mit.edu 37 X 12906301 12906301 + Missense_Mutation SNP G G C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chrX:12906301G>C ENST00000380659.3 + 3 2813 c.2674G>C c.(2674-2676)Gat>Cat p.D892H NM_016562.3 NP_057646.1 Q9NYK1 TLR7_HUMAN toll-like receptor 7 892 TIR. cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 44 Imiquimod(DB00724) CTGTTGCTATGATGCTTTTAT 0.433000 29 187 0 0 1 0 0 CABLES1 91768 broad.mit.edu 37 18 20832925 20832925 + Splice_Site SNP C C A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr18:20832925C>A ENST00000256925.7 + 8 1448 c.1448C>A c.(1447-1449)aCa>aAa p.T483K CABLES1_ENST00000585061.1_Intron|CABLES1_ENST00000400473.2_Splice_Site_p.T156K|CABLES1_ENST00000420687.2_Splice_Site_p.T218K|TMEM241_ENST00000450466.2_Intron NM_001100619.2 NP_001094089.1 Q8TDN4 CABL1_HUMAN Cdk5 and Abl enzyme substrate 1 483 Interacts with CDK3 (By similarity). blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division cytosol|nucleus cyclin-dependent protein kinase regulator activity|protein binding breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1) 11 all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127) CTGTTACAGACAACAGTGATT 0.438000 11 44 5.50884e-06 5.68022e-06 1 1 0 PMEL 6490 broad.mit.edu 37 12 56349288 56349288 + Silent SNP G G C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr12:56349288G>C ENST00000548747.1 - 9 2384 c.1722C>G c.(1720-1722)acC>acG p.T574T PMEL_ENST00000360714.4_Silent_p.T574T|PMEL_ENST00000550464.1_Silent_p.T488T|PMEL_ENST00000550447.1_Silent_p.T203T|PMEL_ENST00000548493.1_Silent_p.T574T|PMEL_ENST00000552882.1_Silent_p.T574T|PMEL_ENST00000449260.2_Silent_p.T574T|PMEL_ENST00000536427.1_Silent_p.T532T|PMEL_ENST00000539511.1_Silent_p.T488T P40967 PMEL_HUMAN premelanosome protein 574 melanin biosynthetic process|melanosome organization endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane protein binding NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 CCAGGCTGTTGGTATCAGCCA 0.582000 16 73 0 0 1 0 0 SEMA3D 223117 broad.mit.edu 37 7 84651768 84651768 + Silent SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr7:84651768C>T ENST00000284136.6 - 11 1396 c.1353G>A c.(1351-1353)caG>caA p.Q451Q SEMA3D_ENST00000484038.1_5'UTR NM_152754.2 NP_689967.2 O95025 SEM3D_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D 451 Sema. cell differentiation|nervous system development extracellular region|membrane receptor activity NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2) 73 CCACCACTATCTGTGTCAGTC 0.403000 34 160 0 0 1 0 0 ZNF660 285349 broad.mit.edu 37 3 44635933 44635933 + Missense_Mutation SNP G G C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr3:44635933G>C ENST00000322734.2 + 3 581 c.248G>C c.(247-249)tGt>tCt p.C83S RP11-944L7.4_ENST00000457331.1_RNA NM_173658.2 NP_775929.2 Q6AZW8 ZN660_HUMAN zinc finger protein 660 83 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(2)|lung(4) 6 KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585) TGTAAGGAGTGTGGAAAAGCT 0.443000 15 44 0 0 1 0 0 ZNF404 342908 broad.mit.edu 37 19 44378165 44378165 + Silent SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr19:44378165C>T ENST00000587539.1 - 3 200 c.201G>A c.(199-201)gcG>gcA p.A67A ZNF404_ENST00000324394.6_Silent_p.A65A NM_001033719.2 NP_001028891.2 Q494X3 ZN404_HUMAN zinc finger protein 404 67 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1) 17 Prostate(69;0.0352) CCTGATGGTACGCATTTACTT 0.318000 11 51 0 0 1 0 0 STK33 65975 broad.mit.edu 37 11 8483449 8483449 + Missense_Mutation SNP C C A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr11:8483449C>A ENST00000447869.1 - 4 1379 c.461G>T c.(460-462)aGc>aTc p.S154I STK33_ENST00000396673.1_Missense_Mutation_p.S154I|STK33_ENST00000315204.1_Missense_Mutation_p.S154I|STK33_ENST00000396672.1_Missense_Mutation_p.S154I|STK33_ENST00000534493.1_Missense_Mutation_p.S113I|STK33_ENST00000358872.3_5'UTR Q9BYT3 STK33_HUMAN serine/threonine kinase 33 154 Protein kinase. Golgi apparatus|nucleus|perinuclear region of cytoplasm ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3) 23 Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239) CACAGCAGAGCTTCCAGCCTT 0.338000 11 39 4.84862e-15 5.23199e-15 1 1 0 MYO9A 4649 broad.mit.edu 37 15 72186022 72186022 + Missense_Mutation SNP C C G TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr15:72186022C>G ENST00000356056.5 - 26 5612 c.5140G>C c.(5140-5142)Gag>Cag p.E1714Q MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000564571.1_Missense_Mutation_p.E1714Q|MYO9A_ENST00000444904.1_Missense_Mutation_p.E1695Q|MYO9A_ENST00000424560.1_Missense_Mutation_p.E1714Q NM_006901.3 NP_008832.2 B2RTY4 MYO9A_HUMAN myosin IXA 1714 Tail. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 AAACTTACCTCTCTTTGGCCT 0.368000 7 34 0 0 1 0 0 ISOC1 51015 broad.mit.edu 37 5 128430720 128430720 + Silent SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr5:128430720C>T ENST00000173527.5 + 1 277 c.261C>T c.(259-261)ttC>ttT p.F87F NM_016048.2 NP_057132.2 Q96CN7 ISOC1_HUMAN isochorismatase domain containing 1 87 peroxisome catalytic activity kidney(2)|lung(7) 9 all_cancers(142;0.0813)|Prostate(80;0.0865) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Epithelial(69;0.138)|OV - Ovarian serous cystadenocarcinoma(64;0.164) CCAAGGGCTTCGCGGTGAGCG 0.667000 4 23 0 0 1 0 0 CCDC125 202243 broad.mit.edu 37 5 68603838 68603838 + Silent SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr5:68603838G>A ENST00000396496.2 - 5 578 c.471C>T c.(469-471)gcC>gcT p.A157A CCDC125_ENST00000396499.1_Silent_p.A157A|CCDC125_ENST00000460090.1_Intron|CCDC125_ENST00000511257.1_Silent_p.A32A|CCDC125_ENST00000383374.2_Silent_p.A156A Q86Z20 CC125_HUMAN coiled-coil domain containing 125 157 cytoplasm breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|urinary_tract(1) 19 Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183) TATGACTTGTGGCTTTGCCCA 0.333000 7 47 0 0 1 0 0 WDR70 55100 broad.mit.edu 37 5 37379600 37379600 + Missense_Mutation SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr5:37379600C>T ENST00000265107.4 + 2 191 c.35C>T c.(34-36)tCa>tTa p.S12L WDR70_ENST00000504564.1_Missense_Mutation_p.S12L NM_018034.2 NP_060504.1 Q9NW82 WDR70_HUMAN WD repeat domain 70 12 central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 all_lung(31;0.000285) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GTGACAGGCTCAGACGCGTCG 0.662000 23 93 0 0 1 0 0 JMJD4 65094 broad.mit.edu 37 1 227921241 227921241 + Silent SNP G G A rs117793265 by1000genomes TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr1:227921241G>A ENST00000366758.3 - 4 833 c.834C>T c.(832-834)tcC>tcT p.S278S JMJD4_ENST00000438896.2_Silent_p.S278S|JMJD4_ENST00000485807.1_5'UTR|SNAP47_ENST00000480897.1_3'UTR|SNAP47_ENST00000366760.1_Intron NM_023007.2 NP_075383.2 Q9H9V9 JMJD4_HUMAN jumonji domain containing 4 278 JmjC. endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1) 9 Prostate(94;0.0885) AGAGTGCTGGGGAGGTCACGT 0.642000 21 61 0 0 1 0 0 CDR1 1038 broad.mit.edu 37 X 139866027 139866027 + Missense_Mutation SNP G G C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chrX:139866027G>C ENST00000370532.2 - 1 696 c.505C>G c.(505-507)Cgt>Ggt p.R169G NM_004065.2 NP_004056.2 P51861 CDR1_HUMAN cerebellar degeneration-related protein 1, 34kDa 169 6 X 6 AA approximate repeats. p.R169C(1) breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1) 25 Acute lymphoblastic leukemia(192;7.65e-05) Lung SC(4;0.051) GAAAATCCACGTCTTCCCAAC 0.423000 63 266 0 0 1 0 0 MFSD11 79157 broad.mit.edu 37 17 74774367 74774367 + Missense_Mutation SNP C C T rs3198672 TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr17:74774367C>T ENST00000588460.1 + 13 3325 c.1283C>T c.(1282-1284)tCt>tTt p.S428F MFSD11_ENST00000593181.1_Missense_Mutation_p.S376F|MFSD11_ENST00000590514.1_Missense_Mutation_p.S428F|MFSD11_ENST00000590070.1_3'UTR|MFSD11_ENST00000586622.1_Missense_Mutation_p.S428F|MFSD11_ENST00000336509.4_Missense_Mutation_p.S428F|MFSD11_ENST00000355954.3_Missense_Mutation_p.S376F NM_001242534.1 NP_001229463.1 O43934 MFS11_HUMAN major facilitator superfamily domain containing 11 428 S -> F (in dbSNP:rs3198672). integral to membrane endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1) 17 GGAACAATTTCTTTCTTCACT 0.493000 11 79 0 0 1 0 0 ABI3BP 25890 broad.mit.edu 37 3 100566463 100566463 + Missense_Mutation SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr3:100566463G>A ENST00000471714.1 - 19 1761 c.1652C>T c.(1651-1653)cCt>cTt p.P551L ABI3BP_ENST00000284322.5_Missense_Mutation_p.P502L|ABI3BP_ENST00000495063.1_Missense_Mutation_p.P551L Q7Z7G0 TARSH_HUMAN ABI family, member 3 (NESH) binding protein 502 Pro-rich. extracellular space central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 50 TGTCCATGTAGGTTCAGGGCT 0.373000 86 113 0 0 1 0 0 RFC4 5984 broad.mit.edu 37 3 186512453 186512453 + Missense_Mutation SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr3:186512453C>T ENST00000392481.2 - 5 685 c.404G>A c.(403-405)cGc>cAc p.R135H RFC4_ENST00000433496.1_Missense_Mutation_p.R135H|RFC4_ENST00000296273.2_Missense_Mutation_p.R135H NM_181573.2 NP_853551.1 P35249 RFC4_HUMAN replication factor C (activator 1) 4, 37kDa 135 cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|protein binding breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 all_cancers(143;2.92e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;7.41e-21) GBM - Glioblastoma multiforme(93;0.0739) TTACTCTGAGCGACTTCCTGA 0.383000 13 56 0 0 1 0 0 HTRA1 5654 broad.mit.edu 37 10 124249040 124249040 + Silent SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr10:124249040G>A ENST00000368984.3 + 3 803 c.675G>A c.(673-675)aaG>aaA p.K225K NM_002775.4 NP_002766.1 Q92743 HTRA1_HUMAN HtrA serine peptidase 1 225 Serine protease. proteolysis|regulation of cell growth extracellular space insulin-like growth factor binding|serine-type endopeptidase activity endometrium(1)|kidney(1)|large_intestine(8)|lung(7) 17 all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238) TGACCAACAAGCACCGGGTCA 0.498000 4 80 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274087 39274087 + Missense_Mutation SNP G G C rs141357429 by1000genomes TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr17:39274087G>C ENST00000391413.2 - 1 519 c.481C>G c.(481-483)Ctg>Gtg p.L161V NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 161 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.L161V(1) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) ACTGGACGCAGGcagcagcag 0.657000 4 29 0 0 1 0 0 INO80 54617 broad.mit.edu 37 15 41388442 41388442 + Nonsense_Mutation SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr15:41388442G>A ENST00000361937.3 - 2 491 c.67C>T c.(67-69)Cag>Tag p.Q23* INO80_ENST00000401393.3_Nonsense_Mutation_p.Q23* Q9ULG1 INO80_HUMAN INO80 complex subunit 23 Assembles INO80 complex module with putative regulatory components INO80E, INO80F, UCHL5, NFRKB, MCRS1 and IN80D. cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair Ino80 complex|microtubule actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 TCCAAGTACTGAAGATAGAGG 0.483000 5 51 0 0 1 0 0 MTUS1 57509 broad.mit.edu 37 8 17611479 17611479 + Missense_Mutation SNP T T G TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr8:17611479T>G ENST00000381869.3 - 2 2311 c.1838A>C c.(1837-1839)gAa>gCa p.E613A MTUS1_ENST00000381862.3_Missense_Mutation_p.E613A|MTUS1_ENST00000262102.6_Missense_Mutation_p.E613A|MTUS1_ENST00000519263.1_Missense_Mutation_p.E613A NM_001001925.2 NP_001001925.1 Q9ULD2 MTUS1_HUMAN microtubule associated tumor suppressor 1 613 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) GTCAACATCTTCCTGATTCGA 0.428000 33 125 0 0 1 0 0 MRTO4 51154 broad.mit.edu 37 1 19584362 19584362 + Missense_Mutation SNP G G C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr1:19584362G>C ENST00000330263.4 + 6 674 c.377G>C c.(376-378)cGa>cCa p.R126P NM_016183.3 NP_057267.2 Q9UKD2 MRT4_HUMAN mRNA turnover 4 homolog (S. cerevisiae) 126 ribosome biogenesis nuclear membrane|nucleolus p.R126Q(2) breast(1)|endometrium(1)|large_intestine(1)|liver(2)|ovary(1)|pancreas(1)|stomach(1) 8 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) GACTACGCCCGAGCTGGTAAC 0.592000 23 123 0 0 1 0 0 RIPK3 11035 broad.mit.edu 37 14 24808466 24808466 + Missense_Mutation SNP C C G TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr14:24808466C>G ENST00000216274.5 - 3 444 c.226G>C c.(226-228)Gaa>Caa p.E76Q RIPK3_ENST00000554338.1_5'UTR NM_006871.3 NP_006862.2 Q9Y572 RIPK3_HUMAN receptor-interacting serine-threonine kinase 3 76 Protein kinase. apoptosis|induction of apoptosis by extracellular signals cytoplasm ATP binding|protein binding|transcription coactivator activity NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 GBM - Glioblastoma multiforme(265;0.0181) ATAACCCCTTCTAGGCGCAGC 0.572000 22 91 0 0 1 0 0 KRT9 3857 broad.mit.edu 37 17 39727637 39727637 + Missense_Mutation SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr17:39727637G>A ENST00000246662.4 - 1 673 c.608C>T c.(607-609)cCt>cTt p.P203L KRT9_ENST00000588431.1_5'UTR NM_000226.3 NP_000217.2 P35527 K1C9_HUMAN keratin 9 203 Linker 1.|Rod. intermediate filament organization|skin development protein binding|structural constituent of cytoskeleton autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 Breast(137;0.000307) GTTATAATAAGGGGAGTAGTT 0.443000 30 143 0 0 1 0 0 MAGEA8 4107 broad.mit.edu 37 X 149013352 149013352 + Silent SNP T T C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chrX:149013352T>C ENST00000535454.1 + 4 855 c.306T>C c.(304-306)gcT>gcC p.A102A MAGEA8_ENST00000286482.1_Silent_p.A102A|MAGEA8_ENST00000542674.1_Silent_p.A102A NM_001166400.1 NP_001159872.1 P43361 MAGA8_HUMAN melanoma antigen family A, 8 102 NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1) 20 Acute lymphoblastic leukemia(192;6.56e-05) CGGACCCAGCTCACCTGGAGT 0.557000 30 145 0 0 1 0 0 OR8B2 26595 broad.mit.edu 37 11 124252654 124252654 + Missense_Mutation SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr11:124252654C>T ENST00000375013.2 - 1 604 c.586G>A c.(586-588)Gag>Aag p.E196K NM_001005468.1 NP_001005468.1 Q96RD0 OR8B2_HUMAN olfactory receptor, family 8, subfamily B, member 2 196 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1) 23 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) ACAACCACCTCGTTGACATAG 0.433000 18 83 0 0 1 0 0 H1FNT 341567 broad.mit.edu 37 12 48723522 48723522 + Missense_Mutation SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr12:48723522G>A ENST00000335017.1 + 1 760 c.448G>A c.(448-450)Gcg>Acg p.A150T NM_181788.1 NP_861453.1 Q75WM6 H1FNT_HUMAN H1 histone family, member N, testis-specific 150 Arg-rich. chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation nuclear chromatin ATP binding|DNA binding p.A150T(1) endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 13 GACCCCAGCCGCGCCCCGGAG 0.706000 7 24 0 0 1 0 0 NDUFA12 55967 broad.mit.edu 37 12 95397387 95397387 + Missense_Mutation SNP G G T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr12:95397387G>T ENST00000327772.2 - 1 159 c.70C>A c.(70-72)Cta>Ata p.L24I NDUFA12_ENST00000547157.1_Missense_Mutation_p.L24I|NDUFA12_ENST00000547986.1_Missense_Mutation_p.L24I NM_018838.4 NP_061326.1 Q9UI09 NDUAC_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12 24 respiratory electron transport chain|respiratory gaseous exchange|response to oxidative stress|transport mitochondrial respiratory chain complex I electron carrier activity|NADH dehydrogenase (ubiquinone) activity endometrium(1)|large_intestine(2)|lung(3) 6 NADH(DB00157) AAAACCCGTAGATAGCCTCGG 0.637000 30 168 5.91797e-21 6.44586e-21 1 1 0 FAT1 2195 broad.mit.edu 37 4 187540391 187540391 + Nonsense_Mutation SNP G G C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr4:187540391G>C ENST00000441802.2 - 10 7558 c.7349C>G c.(7348-7350)tCa>tGa p.S2450* NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 2450 Cadherin 22. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding p.S2450*(2)|p.S2453*(2) NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 GTGCAGGTTTGAGAGGGTGAT 0.433000 HNSCC(5;0.00058) 25 136 0 0 1 0 0 MCTP2 55784 broad.mit.edu 37 15 94857556 94857556 + Missense_Mutation SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr15:94857556C>T ENST00000357742.4 + 2 511 c.511C>T c.(511-513)Cat>Tat p.H171Y MCTP2_ENST00000331706.4_5'UTR|MCTP2_ENST00000543482.1_Missense_Mutation_p.H171Y|MCTP2_ENST00000451018.3_Missense_Mutation_p.H171Y NM_018349.3 NP_060819.3 Q6DN12 MCTP2_HUMAN multiple C2 domains, transmembrane 2 171 calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2) 49 Lung NSC(78;0.0821)|all_lung(78;0.148) BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593) GACATCTCAACATTTTGAAGA 0.318000 4 21 0 0 1 0 0 NFKB2 4791 broad.mit.edu 37 10 104158221 104158221 + Missense_Mutation SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr10:104158221G>A ENST00000369966.3 + 11 1182 c.932G>A c.(931-933)cGc>cAc p.R311H NFKB2_ENST00000336486.5_3'UTR|NFKB2_ENST00000428099.1_Missense_Mutation_p.R311H|NFKB2_ENST00000189444.6_Missense_Mutation_p.R311H NM_001077494.2 NP_001070962.1 Q00653 NFKB2_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100) 311 RHD. innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2) 23 Colorectal(252;0.00957) Epithelial(162;3.4e-08)|all cancers(201;6.41e-07) CAACTGAAACGCAAGCGAGGA 0.577000 T IGH@ B-NHL 4 111 0 0 1 0 0 NUP188 23511 broad.mit.edu 37 9 131760889 131760889 + Missense_Mutation SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr9:131760889C>T ENST00000372577.2 + 32 3523 c.3502C>T c.(3502-3504)Cgg>Tgg p.R1168W NM_015354.1 NP_056169.1 Q5SRE5 NU188_HUMAN nucleoporin 188kDa 1168 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 TATCCTCCTCCGGCAGTGGAA 0.567000 14 90 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578534 7578534 + Missense_Mutation SNP C C G TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr17:7578534C>G ENST00000420246.2 - 5 528 c.396G>C c.(394-396)aaG>aaC p.K132N TP53_ENST00000269305.4_Missense_Mutation_p.K132N|TP53_ENST00000455263.2_Missense_Mutation_p.K132N|TP53_ENST00000359597.4_Missense_Mutation_p.K132N|TP53_ENST00000445888.2_Missense_Mutation_p.K132N|TP53_ENST00000413465.2_Missense_Mutation_p.K132N NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 132 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. K -> E (in LFS; germline mutation and in sporadic cancers; somatic mutation).|K -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).|K -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|KM -> NL (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.K132N(49)|p.0?(8)|p.Y126_K132delYSPALNK(6)|p.K39N(2)|p.N131fs*27(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.A129_K132delALNK(1)|p.Y126fs*11(1)|p.K132K(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.L130_M133delLNKM(1)|p.M133fs*37(1)|p.M133fs*16(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GGCAAAACATCTTGTTGAGGG 0.562000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 11 54 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577082 7577082 + Nonsense_Mutation SNP C C A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr17:7577082C>A ENST00000420246.2 - 8 988 c.856G>T c.(856-858)Gaa>Taa p.E286* TP53_ENST00000269305.4_Nonsense_Mutation_p.E286*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E286*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E286*|TP53_ENST00000445888.2_Nonsense_Mutation_p.E286*|TP53_ENST00000413465.2_Intron NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 286 Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity). E -> A (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.E286K(58)|p.E286*(22)|p.0?(8)|p.E286Q(5)|p.?(2)|p.E286fs*59(2)|p.E286fs*17(2)|p.R283fs*16(2)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.R283fs*56(1)|p.E285fs*13(1)|p.G279fs*59(1)|p.R283fs*59(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) AGATTCTCTTCCTCTGTGCGC 0.557000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 19 53 6.94344e-10 7.28904e-10 1 1 0 TLN2 83660 broad.mit.edu 37 15 62993399 62993399 + Missense_Mutation SNP T T G TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr15:62993399T>G ENST00000561311.1 + 16 1912 c.1682T>G c.(1681-1683)gTt>gGt p.V561G TLN2_ENST00000306829.6_Missense_Mutation_p.V561G Q9Y4G6 TLN2_HUMAN talin 2 561 cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5) 99 GCTTCAGTTGTTAACCTCACA 0.403000 5 43 0 0 1 0 0 MAMDC4 158056 broad.mit.edu 37 9 139754396 139754396 + Silent SNP C C G TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr9:139754396C>G ENST00000445819.1 + 28 3539 c.3489C>G c.(3487-3489)ctC>ctG p.L1163L MAMDC4_ENST00000485732.1_3'UTR|MAMDC4_ENST00000317446.2_Silent_p.L1084L Q6UXC1 AEGP_HUMAN MAM domain containing 4 1163 protein transport integral to membrane breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 19 all_cancers(76;0.0763)|all_epithelial(76;0.198) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171) TCCTATTGCTCATGCTCCTGG 0.647000 16 32 0 0 1 0 0 KRTAP26-1 388818 broad.mit.edu 37 21 31691783 31691783 + Missense_Mutation SNP T T A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr21:31691783T>A ENST00000360542.3 - 1 824 c.571A>T c.(571-573)Agt>Tgt p.S191C NM_203405.1 NP_981950.1 Q6PEX3 KR261_HUMAN keratin associated protein 26-1 191 intermediate filament endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 16 TGGCAACCACTGAACAGAGGC 0.532000 54 314 0 0 1 0 0 CCDC125 202243 broad.mit.edu 37 5 68616398 68616398 + Translation_Start_Site SNP A A C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr5:68616398A>C ENST00000511257.1 - 0 38 CCDC125_ENST00000396499.1_De_novo_Start_InFrame|CCDC125_ENST00000396496.2_De_novo_Start_InFrame|CCDC125_ENST00000460090.1_5'UTR|CCDC125_ENST00000383374.2_De_novo_Start_InFrame Q86Z20 CC125_HUMAN coiled-coil domain containing 125 cytoplasm breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|urinary_tract(1) 19 Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183) CATAAGAAAAAATGGGCTGTC 0.413000 11 25 0 0 1 0 0 SEMA6C 10500 broad.mit.edu 37 1 151108092 151108092 + Missense_Mutation SNP C C G TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr1:151108092C>G ENST00000341697.3 - 14 3099 c.1408G>C c.(1408-1410)Gag>Cag p.E470Q Q9H3T2 SEM6C_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C 470 Sema. integral to membrane receptor activity p.E470Q(1) central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 28 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) GCATCAATCTCTTCCAGGAGG 0.602000 67 122 0 0 1 0 0 KIF16B 55614 broad.mit.edu 37 20 16360474 16360474 + Nonsense_Mutation SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr20:16360474G>A ENST00000354981.2 - 19 2330 c.2173C>T c.(2173-2175)Cag>Tag p.Q725* KIF16B_ENST00000408042.1_Nonsense_Mutation_p.Q725*|KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000355755.3_Nonsense_Mutation_p.Q725* NM_001199865.1|NM_024704.4 NP_001186794.1|NP_078980.3 Q96L93 KI16B_HUMAN kinesin family member 16B 725 Glu-rich. cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling early endosome membrane|microtubule ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2) 74 TGAAATATCTGAAACTTCTCA 0.443000 29 108 0 0 1 0 0 TOR4A 54863 broad.mit.edu 37 9 140174221 140174221 + Missense_Mutation SNP C C G TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr9:140174221C>G ENST00000357503.2 + 2 1276 c.1080C>G c.(1078-1080)atC>atG p.I360M NM_017723.2 NP_060193.2 Q9NXH8 CI167_HUMAN torsin family 4, member A 360 chaperone mediated protein folding requiring cofactor integral to membrane ATP binding|nucleoside-triphosphatase activity CCGCGGCCATCGTGCCGTTTC 0.697000 8 10 0 0 1 0 0 ZBTB4 57659 broad.mit.edu 37 17 7366260 7366260 + Missense_Mutation SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr17:7366260C>T ENST00000311403.4 - 4 2380 c.2041G>A c.(2041-2043)Ggt>Agt p.G681S ZBTB4_ENST00000380599.4_Missense_Mutation_p.G681S NM_020899.3 NP_065950.2 Q9P1Z0 ZBTB4_HUMAN zinc finger and BTB domain containing 4 681 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6) 36 Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255) COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642) ACACTGGCACCTCCAGCAGCT 0.662000 5 184 0 0 1 0 0 TRIM5 85363 broad.mit.edu 37 11 5686559 5686559 + Missense_Mutation SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr11:5686559C>T ENST00000305836.5 - 8 1264 c.962G>A c.(961-963)aGc>aAc p.S321N TRIM5_ENST00000380034.3_Missense_Mutation_p.S321N|TRIM5_ENST00000396855.3_Intron|TRIM5_ENST00000483835.1_5'UTR|TRIM5_ENST00000396847.3_3'UTR|TRIM5_ENST00000396853.4_Intron|TRIM5_ENST00000380027.1_Intron Q9C035 TRIM5_HUMAN tripartite motif containing 5 321 B30.2/SPRY. interspecies interaction between organisms|protein trimerization|response to virus cytoplasm|cytoplasmic mRNA processing body ligase activity|protein binding|protein homodimerization activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 21 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221) Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139) TTTCGGAGAGCTCACTTGTCT 0.408000 13 69 0 0 1 0 0 DOCK8 81704 broad.mit.edu 37 9 336580 336580 + Splice_Site SNP A A T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr9:336580A>T ENST00000432829.2 + 12 1397 c.e12-1 DOCK8_ENST00000469391.1_Splice_Site|DOCK8_ENST00000453981.1_Splice_Site NM_203447.3 NP_982272.2 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 65 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) TTTTTCTTAAAGGGAGAAGCT 0.423000 13 51 0 0 1 0 0 ASIC2 40 broad.mit.edu 37 17 32483149 32483149 + Missense_Mutation SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr17:32483149C>T ENST00000359872.6 - 1 1164 c.403G>A c.(403-405)Gag>Aag p.E135K NM_001094.4 NP_001085.2 Q16515 ACCN1_HUMAN acid-sensing (proton-gated) ion channel 2 135 central nervous system development|peripheral nervous system development|synaptic transmission integral to plasma membrane ligand-gated sodium channel activity|protein binding p.E135Q(1) Amiloride(DB00594) CGCAGGGCCTCCAGCACGGAG 0.597000 26 119 0 0 1 0 0 METTL24 728464 broad.mit.edu 37 6 110567226 110567226 + Nonsense_Mutation SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr6:110567226G>A ENST00000338882.4 - 5 1023 c.1024C>T c.(1024-1026)Cag>Tag p.Q342* CDC40_ENST00000368930.1_Intron NM_001123364.1 NP_001116836.1 Q5JXM2 CF186_HUMAN methyltransferase like 24 342 extracellular region AAGAATAGCTGAGGTTTAGAT 0.403000 15 90 0 0 1 0 0 PHEX 5251 broad.mit.edu 37 X 22094533 22094533 + Missense_Mutation SNP G G C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chrX:22094533G>C ENST00000379374.4 + 4 942 c.377G>C c.(376-378)aGg>aCg p.R126T PHEX_ENST00000537599.1_Missense_Mutation_p.R126T|PHEX_ENST00000535894.1_Missense_Mutation_p.R29T NM_000444.4 NP_000435.3 P78562 PHEX_HUMAN phosphate regulating endopeptidase homolog, X-linked 126 biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development integral to plasma membrane aminopeptidase activity|metalloendopeptidase activity|zinc ion binding breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 42 ATCAGTAGAAGGCGGGACACC 0.383000 5 35 0 0 1 0 0 SEL1L3 23231 broad.mit.edu 37 4 25836912 25836912 + Missense_Mutation SNP G G C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr4:25836912G>C ENST00000399878.3 - 3 889 c.767C>G c.(766-768)tCc>tGc p.S256C SEL1L3_ENST00000264868.5_Missense_Mutation_p.S221C|SEL1L3_ENST00000513364.1_5'UTR|SEL1L3_ENST00000502949.1_Missense_Mutation_p.S103C NM_015187.3 NP_056002.2 Q68CR1 SE1L3_HUMAN sel-1 suppressor of lin-12-like 3 (C. elegans) 256 integral to membrane binding breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2) 14 TTCTCCACTGGAGGCATAAGG 0.488000 26 100 0 0 1 0 0 TXNIP 10628 broad.mit.edu 37 1 145440274 145440274 + Missense_Mutation SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr1:145440274G>A ENST00000369317.4 + 5 914 c.580G>A c.(580-582)Gag>Aag p.E194K TXNIP_ENST00000475171.1_Intron NM_006472.3 NP_006463.3 Q9H3M7 TXNIP_HUMAN thioredoxin interacting protein 194 cell cycle|keratinocyte differentiation|transcription, DNA-dependent ubiquitin protein ligase binding p.E194K(1) breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 21 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GCTAGGTGATGAGATTTCCAT 0.478000 21 149 0 0 1 0 0 GPR158 57512 broad.mit.edu 37 10 25885648 25885648 + Missense_Mutation SNP C C G TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr10:25885648C>G ENST00000376351.3 + 10 2434 c.2075C>G c.(2074-2076)tCt>tGt p.S692C GPR158_ENST00000490549.1_3'UTR NM_020752.2 NP_065803.2 Q5T848 GP158_HUMAN G protein-coupled receptor 158 692 integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 ATGGGCCGATCTGGATCCTAC 0.443000 14 42 0 0 1 0 0 CPNE8 144402 broad.mit.edu 37 12 39047685 39047685 + Silent SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr12:39047685C>T ENST00000331366.5 - 20 1790 c.1694G>A c.(1693-1695)tGa>tAa p.*565* CPNE8_ENST00000546603.1_5'UTR|CPNE8_ENST00000360449.3_Silent_p.*553*|CPNE8_ENST00000538596.2_Silent_p.*234* NM_153634.2 NP_705898.1 Q86YQ8 CPNE8_HUMAN copine VIII 0 NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2) 21 Esophageal squamous(101;0.187) Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157) AGAGCACAGTCATATTTGAGT 0.458000 7 30 0 0 1 0 0 LPPR4 9890 broad.mit.edu 37 1 99771657 99771657 + Silent SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr1:99771657C>T ENST00000370185.3 + 7 1880 c.1383C>T c.(1381-1383)tcC>tcT p.S461S LPPR4_ENST00000370184.1_Silent_p.S303S|LPPR4_ENST00000457765.1_Silent_p.S403S NM_014839.4 NP_055654.2 Q7Z2D5 LPPR4_HUMAN 461 phosphatidate phosphatase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 72 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) GAAAGTTGTCCTTGCAAGTTA 0.502000 39 94 0 0 1 0 0 TRIM51 84767 broad.mit.edu 37 11 55653304 55653304 + Nonsense_Mutation SNP G G T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr11:55653304G>T ENST00000449290.2 + 2 492 c.400G>T c.(400-402)Gag>Tag p.E134* NM_032681.3 NP_116070.2 Q9BSJ1 SPRY5_HUMAN tripartite motif-containing 51 134 intracellular zinc ion binding GTGGGCTGCTGAGGAACGCCG 0.478000 7 36 2.0095e-06 2.08127e-06 1 1 0 PICK1 9463 broad.mit.edu 37 22 38470962 38470962 + Silent SNP C C G TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr22:38470962C>G ENST00000404072.3 + 13 1418 c.1071C>G c.(1069-1071)gtC>gtG p.V357V PICK1_ENST00000356976.3_Silent_p.V357V NM_001039583.1|NM_001039584.1 NP_001034672.1|NP_001034673.1 Q9NRD5 PICK1_HUMAN protein interacting with PRKCA 1 357 AH. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 13 Melanoma(58;0.045) ATGCCGACGTCTTCCCCATCG 0.607000 16 59 0 0 1 0 0 CNTNAP3B 728577 broad.mit.edu 37 9 43828112 43828112 + Silent SNP A A G rs150656228 by1000genomes TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr9:43828112A>G ENST00000377564.3 + 9 1761 c.1368A>G c.(1366-1368)gtA>gtG p.V456V NM_001201380.1 NP_001188309.1 Q96NU0 CNT3B_HUMAN contactin associated protein-like 3B 456 Laminin G-like 2. cell adhesion|signal transduction integral to membrane receptor binding central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3) 10 GGCACTCTGTATCCTTCTCTG 0.458000 3 38 0 0 1 0 0 MFSD11 79157 broad.mit.edu 37 17 74774374 74774374 + Silent SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr17:74774374C>T ENST00000588460.1 + 13 3332 c.1290C>T c.(1288-1290)ttC>ttT p.F430F MFSD11_ENST00000593181.1_Silent_p.F378F|MFSD11_ENST00000590514.1_Silent_p.F430F|MFSD11_ENST00000590070.1_3'UTR|MFSD11_ENST00000586622.1_Silent_p.F430F|MFSD11_ENST00000336509.4_Silent_p.F430F|MFSD11_ENST00000355954.3_Silent_p.F378F NM_001242534.1 NP_001229463.1 O43934 MFS11_HUMAN major facilitator superfamily domain containing 11 430 integral to membrane endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1) 17 TTTCTTTCTTCACTGTGGAAT 0.498000 11 81 0 0 1 0 0 CREBRF 153222 broad.mit.edu 37 5 172517948 172517948 + Missense_Mutation SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr5:172517948C>T ENST00000540014.1 + 4 1085 c.766C>T c.(766-768)Cac>Tac p.H256Y CREBRF_ENST00000522692.1_Missense_Mutation_p.H256Y|CREBRF_ENST00000296953.2_Missense_Mutation_p.H256Y|CREBRF_ENST00000520420.1_Missense_Mutation_p.H256Y Q8IUR6 CE041_HUMAN CREB3 regulatory factor 256 protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity GAGCCAGATTCACACAGATGC 0.468000 14 56 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38854693 38854693 + Nonsense_Mutation SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr6:38854693C>T ENST00000359357.3 + 55 7989 c.7735C>T c.(7735-7737)Cga>Tga p.R2579* DNAH8_ENST00000449981.2_Nonsense_Mutation_p.R2796*|DNAH8_ENST00000441566.1_Nonsense_Mutation_p.R2543* 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 TGGAGGTGGTCGAAATGATAT 0.378000 20 72 0 0 1 0 0 PLCB2 5330 broad.mit.edu 37 15 40594185 40594185 + Silent SNP G G C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr15:40594185G>C ENST00000260402.3 - 7 804 c.555C>G c.(553-555)ctC>ctG p.L185L PLCB2_ENST00000543785.2_Silent_p.L185L|PLCB2_ENST00000557821.1_Silent_p.L185L|PLCB2_ENST00000456256.2_Silent_p.L185L NM_001284297.1|NM_004573.2 NP_001271226.1|NP_004564.2 Q00722 PLCB2_HUMAN phospholipase C, beta 2 185 activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3) 39 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508) GGCAGGCACTGAGAGCAGCTT 0.567000 15 62 0 0 1 0 0 DGKK 139189 broad.mit.edu 37 X 50117981 50117981 + RNA SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chrX:50117981C>T ENST00000376025.2 - 0 3548 Q5KSL6 DGKK_HUMAN diacylglycerol kinase, kappa activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(276;0.236) AGCTTTTCATCCAGGAAAGCT 0.473000 5 26 0 0 1 0 0 ISYNA1 51477 broad.mit.edu 37 19 18547041 18547041 + Missense_Mutation SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr19:18547041G>A ENST00000338128.8 - 7 993 c.776C>T c.(775-777)tCg>tTg p.S259L ISYNA1_ENST00000457269.4_Missense_Mutation_p.S205L|ISYNA1_ENST00000545187.1_Missense_Mutation_p.S109L|ISYNA1_ENST00000578963.1_Missense_Mutation_p.S131L|ISYNA1_ENST00000317018.6_Missense_Mutation_p.S57L NM_001170938.1|NM_016368.4 NP_001164409.1|NP_057452.1 Q9NPH2 INO1_HUMAN inositol-3-phosphate synthase 1 inositol biosynthetic process|phospholipid biosynthetic process cytoplasm binding|inositol-3-phosphate synthase activity breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2) 12 CGTGGAGGGCGACACCTCCAG 0.677000 7 48 0 0 1 0 0 CNKSR3 154043 broad.mit.edu 37 6 154732170 154732170 + Missense_Mutation SNP G G C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr6:154732170G>C ENST00000607772.1 - 11 1721 c.1177C>G c.(1177-1179)Cgg>Ggg p.R393G CNKSR3_ENST00000433165.2_Missense_Mutation_p.R218G|CNKSR3_ENST00000479339.1_Missense_Mutation_p.R313G NM_173515.2 NP_775786.2 Q6P9H4 CNKR3_HUMAN CNKSR family member 3 393 DUF1170. negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport cytoplasm|membrane breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1) 15 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627) CTTCGTCTCCGGCTTTCCTGG 0.483000 14 150 0 0 1 0 0 LGALS9C 654346 broad.mit.edu 37 17 18394613 18394613 + Silent SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr17:18394613G>A ENST00000328114.6 + 7 684 c.603G>A c.(601-603)caG>caA p.Q201Q LGALS9C_ENST00000584941.1_Silent_p.Q157Q|LGALS9C_ENST00000581545.1_Silent_p.Q169Q|LGALS9C_ENST00000412421.2_Silent_p.Q113Q|LGALS9C_ENST00000583322.1_Silent_p.Q169Q NM_001040078.2 NP_001035167.2 Q6DKI2 LEG9C_HUMAN lectin, galactoside-binding, soluble, 9C 201 sugar binding NS(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2) 7 ACACGGTGCAGAGTGCCTCTG 0.542000 30 168 0 0 1 0 0 OR8D1 283159 broad.mit.edu 37 11 124179947 124179947 + Missense_Mutation SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr11:124179947C>T ENST00000357821.2 - 1 786 c.716G>A c.(715-717)gGa>gAa p.G239E NM_001002917.1 NP_001002917.1 Q8WZ84 OR8D1_HUMAN olfactory receptor, family 8, subfamily D, member 1 239 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528) GCTGCATGTTCCAAAAGCTTT 0.517000 17 57 0 0 1 0 0 TENM4 26011 broad.mit.edu 37 11 78399233 78399233 + Missense_Mutation SNP G G T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr11:78399233G>T ENST00000278550.7 - 29 5588 c.5126C>A c.(5125-5127)cCt>cAt p.P1709H NM_001098816.2 NP_001092286.2 teneurin transmembrane protein 4 CTGGCCAGTAGGGAAGGTCAC 0.507000 31 182 2.81731e-10 2.98455e-10 1 1 0 PTPN14 5784 broad.mit.edu 37 1 214567095 214567095 + Missense_Mutation SNP A A C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr1:214567095A>C ENST00000366956.5 - 10 1066 c.872T>G c.(871-873)aTt>aGt p.I291S PTPN14_ENST00000543945.1_3'UTR NM_005401.4 NP_005392.2 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 14 291 FERM. lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) CAACCGAGAAATATACTTGGC 0.343000 20 67 0 0 1 0 0 ATP1B2 482 broad.mit.edu 37 17 7557218 7557218 + Missense_Mutation SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr17:7557218G>A ENST00000250111.4 + 3 708 c.301G>A c.(301-303)Gaa>Aaa p.E101K NM_001678.3 NP_001669.3 P14415 AT1B2_HUMAN ATPase, Na+/K+ transporting, beta 2 polypeptide 101 ATP biosynthetic process|blood coagulation|leukocyte migration integral to membrane|plasma membrane protein binding|sodium:potassium-exchanging ATPase activity p.0?(2)|p.?(1) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|pancreas(1) 10 all_cancers(10;0.000178)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;2.55e-06)|READ - Rectum adenocarcinoma(115;0.168) CAGTGACACTGAAAGCTGGGA 0.498000 19 84 0 0 1 0 0 ARHGAP32 9743 broad.mit.edu 37 11 128840032 128840032 + Silent SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr11:128840032C>T ENST00000310343.9 - 22 5033 c.5034G>A c.(5032-5034)ttG>ttA p.L1678L ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000392657.3_Silent_p.L1329L|ARHGAP32_ENST00000527272.1_Silent_p.L1329L NM_001142685.1 NP_001136157.1 A7KAX9 RHG32_HUMAN Rho GTPase activating protein 32 1678 Interaction with GAB2. cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane GTPase activator activity|phosphatidylinositol binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3) 60 GAAGGGGTCTCAACTGGACTG 0.512000 23 103 0 0 1 0 0 PPFIA3 8541 broad.mit.edu 37 19 49649227 49649227 + Nonsense_Mutation SNP G G T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr19:49649227G>T ENST00000334186.4 + 22 3122 c.2773G>T c.(2773-2775)Gag>Tag p.E925* PPFIA3_ENST00000602351.1_Nonsense_Mutation_p.E925* NM_003660.2 NP_003651.1 O75145 LIPA3_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3 925 cell surface|cytoplasm protein binding NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1) 35 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677) GATGACACACGAGGAGATGGA 0.647000 OREG0025618 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 24 130 1.64293e-13 1.7565e-13 1 1 0 COL11A2 1302 broad.mit.edu 37 6 33142356 33142356 + Splice_Site SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr6:33142356C>T ENST00000341947.2 - 31 2605 c.2378G>A c.(2377-2379)gGc>gAc p.G793D COL11A2_ENST00000374713.1_Splice_Site_p.G746D|COL11A2_ENST00000374714.1_Splice_Site_p.G767D|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000395197.1_Splice_Site_p.G733D|COL11A2_ENST00000357486.1_Splice_Site_p.G772D|COL11A2_ENST00000361917.1_Splice_Site_p.G686D|COL11A2_ENST00000374712.1_Splice_Site_p.G712D|COL11A2_ENST00000374708.4_Splice_Site_p.G707D NM_080680.2 NP_542411.2 P13942 COBA2_HUMAN collagen, type XI, alpha 2 793 Triple-helical region. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 ACCCAGCTTGCCCTGTGGAGG 0.617000 3 37 0 0 1 0 0 ARHGEF4 50649 broad.mit.edu 37 2 131704110 131704110 + Missense_Mutation SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr2:131704110C>T ENST00000409359.1 + 4 4095 c.2897C>T c.(2896-2898)cCa>cTa p.P966L ARHGEF4_ENST00000525839.1_Missense_Mutation_p.P110L|ARHGEF4_ENST00000326016.5_Missense_Mutation_p.P110L|ARHGEF4_ENST00000409303.1_Missense_Mutation_p.P110L|ARHGEF4_ENST00000392953.3_Missense_Mutation_p.P110L|ARHGEF4_ENST00000428230.2_Missense_Mutation_p.P110L Q9NR80 ARHG4_HUMAN Rho guanine nucleotide exchange factor (GEF) 4 110 apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|ruffle membrane protein domain specific binding|Rac guanyl-nucleotide exchange factor activity NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4) 29 Prostate(154;0.055) BRCA - Breast invasive adenocarcinoma(221;0.097) ATTACCTCTCCAGAGTCTTTG 0.522000 18 129 0 0 1 0 0 POU4F1 5457 broad.mit.edu 37 13 79176005 79176005 + Missense_Mutation SNP C C G TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr13:79176005C>G ENST00000377208.5 - 2 1016 c.805G>C c.(805-807)Gag>Cag p.E269Q RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000606124.1_RNA|RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000444769.3_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000607220.1_RNA|RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000606376.1_RNA|RNF219-AS1_ENST00000607860.1_RNA NM_006237.3 NP_006228.3 Q01851 PO4F1_HUMAN POU class 4 homeobox 1 269 POU-specific. axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1) 16 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848) GBM - Glioblastoma multiforme(99;0.129) GCGAACGCCTCGAGCTCGCGC 0.756000 5 23 0 0 1 0 0 IFT172 26160 broad.mit.edu 37 2 27706492 27706492 + Missense_Mutation SNP G G C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr2:27706492G>C ENST00000260570.3 - 6 540 c.437C>G c.(436-438)tCt>tGt p.S146C IFT172_ENST00000359466.6_Missense_Mutation_p.S146C|IFT172_ENST00000416524.2_Missense_Mutation_p.S125C NM_015662.1 NP_056477.1 Q9UG01 IF172_HUMAN intraflagellar transport 172 homolog (Chlamydomonas) 146 cilium assembly cilium binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 43 Acute lymphoblastic leukemia(172;0.155) ATAGATGGTAGATGATTTATT 0.368000 16 47 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179666927 179666927 + Missense_Mutation SNP T T C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr2:179666927T>C ENST00000589042.1 - 3 457 c.233A>G c.(232-234)tAt>tGt p.Y78C TTN_ENST00000342992.6_Missense_Mutation_p.Y78C|TTN_ENST00000359218.5_Missense_Mutation_p.Y78C|TTN_ENST00000360870.5_Missense_Mutation_p.Y78C|TTN_ENST00000460472.2_Missense_Mutation_p.Y78C|TTN_ENST00000342175.6_Missense_Mutation_p.Y78C|TTN_ENST00000591111.1_Missense_Mutation_p.Y78C NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 78 Ig-like 1. 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) TTTCAGGGAATATCGTCCACT 0.562000 21 108 0 0 1 0 0 NDRG2 57447 broad.mit.edu 37 14 21486650 21486650 + Nonsense_Mutation SNP G G C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr14:21486650G>C ENST00000556147.1 - 13 1767 c.827C>G c.(826-828)tCa>tGa p.S276* NDRG2_ENST00000350792.3_Nonsense_Mutation_p.S262*|NDRG2_ENST00000397856.3_Intron|NDRG2_ENST00000554104.1_Nonsense_Mutation_p.S189*|NDRG2_ENST00000553503.1_Nonsense_Mutation_p.S262*|NDRG2_ENST00000403829.3_Nonsense_Mutation_p.S272*|NDRG2_ENST00000397851.2_Nonsense_Mutation_p.S276*|NDRG2_ENST00000397847.2_Nonsense_Mutation_p.S265*|NDRG2_ENST00000298684.5_Nonsense_Mutation_p.S233*|NDRG2_ENST00000298687.5_Nonsense_Mutation_p.S276*|NDRG2_ENST00000554143.1_Nonsense_Mutation_p.S262*|NDRG2_ENST00000397858.1_Nonsense_Mutation_p.S276*|NDRG2_ENST00000397844.2_Intron|NDRG2_ENST00000397855.3_Nonsense_Mutation_p.S233*|NDRG2_ENST00000397853.3_Nonsense_Mutation_p.S276*|NDRG2_ENST00000360463.3_Nonsense_Mutation_p.S262*|NDRG2_ENST00000555158.1_Nonsense_Mutation_p.S262* Q9UN36 NDRG2_HUMAN NDRG family member 2 276 cell differentiation|nervous system development centrosome|cytosol|Golgi apparatus|nucleus|perinuclear region of cytoplasm breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 23 all_cancers(95;0.00185) OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08) GBM - Glioblastoma multiforme(265;0.0191) GTCCAGTTTTGAGTTACATTC 0.577000 8 31 0 0 1 0 0 AGPAT3 56894 broad.mit.edu 37 21 45389127 45389127 + Silent SNP G G A rs115875072 byFrequency TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr21:45389127G>A ENST00000398063.2 + 4 969 c.477G>A c.(475-477)ctG>ctA p.L159L AGPAT3_ENST00000398061.1_Silent_p.L159L|AGPAT3_ENST00000398058.1_Silent_p.L159L|AGPAT3_ENST00000546158.1_Silent_p.L159L|AGPAT3_ENST00000291572.8_Silent_p.L159L|AGPAT3_ENST00000327505.2_Silent_p.L159L|AGPAT3_ENST00000479117.1_3'UTR NM_001037553.1 NP_001032642.1 Q9NRZ7 PLCC_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 3 159 phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane|plasma membrane 1-acylglycerol-3-phosphate O-acyltransferase activity large_intestine(4)|lung(5)|ovary(1)|prostate(1) 11 STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24) TCGAAGGGCTGAGGCGCCTGT 0.632000 29 86 0 0 1 0 0 DOCK4 9732 broad.mit.edu 37 7 111580178 111580178 + Silent SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr7:111580178G>A ENST00000428084.1 - 11 1236 c.964C>T c.(964-966)Ctg>Ttg p.L322L DOCK4_ENST00000437633.1_Silent_p.L322L|DOCK4_ENST00000476846.1_5'UTR Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 322 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) TATACTTTCAGAATGAGGTCA 0.493000 12 67 0 0 1 0 0 TXNIP 10628 broad.mit.edu 37 1 145438895 145438895 + Silent SNP G G C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr1:145438895G>C ENST00000369317.4 + 1 427 c.93G>C c.(91-93)gtG>gtC p.V31V TXNIP_ENST00000475171.1_Intron NM_006472.3 NP_006463.3 Q9H3M7 TXNIP_HUMAN thioredoxin interacting protein 31 cell cycle|keratinocyte differentiation|transcription, DNA-dependent ubiquitin protein ligase binding breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 21 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) CTGGCCGGGTGATAGTGGAGG 0.517000 7 91 0 0 1 0 0 PRICKLE2 166336 broad.mit.edu 37 3 64132828 64132828 + Silent SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr3:64132828G>A ENST00000295902.6 - 7 1923 c.1338C>T c.(1336-1338)ttC>ttT p.F446F PRICKLE2_ENST00000564377.1_Silent_p.F502F NM_198859.3 NP_942559.1 Q7Z3G6 PRIC2_HUMAN prickle homolog 2 (Drosophila) 446 cytoplasm|nuclear membrane zinc ion binding breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1) 32 Lung NSC(201;0.136) BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497) TGGGGTTGCTGAAGTGCTTGC 0.582000 30 79 0 0 1 0 0 SPTBN1 6711 broad.mit.edu 37 2 54870186 54870186 + Missense_Mutation SNP C C G TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr2:54870186C>G ENST00000333896.5 + 18 4271 c.3886C>G c.(3886-3888)Ctg>Gtg p.L1296V SPTBN1_ENST00000356805.4_Missense_Mutation_p.L1309V NM_178313.2 NP_842565.2 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 1309 actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 82 Lung(47;0.24) AGCCAGAAATCTGCACAGTAA 0.413000 18 92 0 0 1 0 0 ACY3 91703 broad.mit.edu 37 11 67414351 67414351 + Missense_Mutation SNP G G C rs145934175 TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr11:67414351G>C ENST00000255082.3 - 3 334 c.164C>G c.(163-165)cCg>cGg p.P55R ACY3_ENST00000529256.1_5'UTR NM_080658.1 NP_542389.1 Q96HD9 ACY3_HUMAN aspartoacylase (aminocyclase) 3 55 interspecies interaction between organisms apical plasma membrane|cytoplasm hydrolase activity, acting on ester bonds|metal ion binding endometrium(1)|lung(5)|prostate(2) 8 L-Aspartic Acid(DB00128) TGTGGCTGCCGGGTTGGCCAG 0.662000 8 24 0 0 1 0 0 PLVAP 83483 broad.mit.edu 37 19 17476791 17476791 + Silent SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr19:17476791C>T ENST00000252590.4 - 3 544 c.483G>A c.(481-483)ctG>ctA p.L161L NM_031310.1 NP_112600.1 Q9BX97 PLVAP_HUMAN plasmalemma vesicle associated protein 161 caveola|integral to membrane|perinuclear region of cytoplasm cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 CCTTCTGATTCAGCATGAAGA 0.572000 12 58 0 0 1 0 0 PCDHA11 56138 broad.mit.edu 37 5 140250913 140250913 + Missense_Mutation SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr5:140250913G>A ENST00000398640.2 + 1 2225 c.2225G>A c.(2224-2226)cGc>cAc p.R742H PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron NM_018902.3 NP_061725.1 breast(1)|lung(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGTGCTCCCGCGCGGTGGGG 0.677000 15 56 0 0 1 0 0 ALG1 56052 broad.mit.edu 37 16 5123174 5123174 + Missense_Mutation SNP T T C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr16:5123174T>C ENST00000262374.5 + 3 338 c.307T>C c.(307-309)Tac>Cac p.Y103H ALG1_ENST00000544428.1_5'UTR|ALG1_ENST00000588623.1_5'UTR NM_019109.4 NP_061982.3 Q9BT22 ALG1_HUMAN ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase 103 dolichol-linked oligosaccharide biosynthetic process|lipopolysaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane chitobiosyldiphosphodolichol beta-mannosyltransferase activity breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Ovarian(90;0.0164) AGTTTTCCAGTACGGAGTCAA 0.517000 15 50 0 0 1 0 0 FHDC1 85462 broad.mit.edu 37 4 153864366 153864366 + Missense_Mutation SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr4:153864366G>A ENST00000511601.1 + 2 345 c.157G>A c.(157-159)Gag>Aag p.E53K FHDC1_ENST00000260008.3_Missense_Mutation_p.E53K Q9C0D6 FHDC1_HUMAN FH2 domain containing 1 53 actin cytoskeleton organization actin binding ARFIP1/FHDC1(2) NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 43 all_hematologic(180;0.093) TTCAAGGGAAGAGTGTCCTTC 0.607000 6 18 0 0 1 0 0 NCOA7 135112 broad.mit.edu 37 6 126210736 126210736 + Silent SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr6:126210736C>T ENST00000368357.3 + 10 1888 c.1536C>T c.(1534-1536)aaC>aaT p.N512N NCOA7_ENST00000392477.2_Silent_p.N512N|NCOA7_ENST00000229634.9_Silent_p.N397N NM_001199619.1|NM_001199620.1 NP_001186548.1|NP_001186549.1 Q8NI08 NCOA7_HUMAN nuclear receptor coactivator 7 512 cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2) 39 UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237) ACACACTGAACATACATGAAG 0.388000 14 63 0 0 1 0 0 NDUFA13 51079 broad.mit.edu 37 19 19640241 19640241 + Missense_Mutation SNP C C G TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr19:19640241C>G ENST00000512771.3 + 6 504 c.494C>G c.(493-495)tCc>tGc p.S165C CTC-260F20.3_ENST00000555938.1_Intron|YJEFN3_ENST00000514277.4_Missense_Mutation_p.S43C|CTC-260F20.3_ENST00000586674.1_3'UTR|YJEFN3_ENST00000608404.1_Intron|YJEFN3_ENST00000436027.5_Intron NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1) 12 GCTACCACCTCCCTTGTCCAG 0.597000 9 44 0 0 1 0 0 HUNK 30811 broad.mit.edu 37 21 33371331 33371331 + Missense_Mutation SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr21:33371331G>A ENST00000270112.2 + 11 2339 c.1979G>A c.(1978-1980)cGa>cAa p.R660Q NM_014586.1 NP_055401.1 P57058 HUNK_HUMAN hormonally up-regulated Neu-associated kinase 660 multicellular organismal development|signal transduction ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1) 30 GTGAAAAGCCGAGGCCGGTTC 0.612000 16 97 0 0 1 0 0 LOC220729 220729 broad.mit.edu 37 3 197348674 197348674 + RNA SNP A A G rs144273946 by1000genomes TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr3:197348674A>G ENST00000418868.1 - 0 585 NR_003266.2 GGCTCTGTCCACCAAATGCAC 0.478000 4 156 0 0 1 0 0 XIST 7503 broad.mit.edu 37 X 73070139 73070139 + RNA SNP G G C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chrX:73070139G>C ENST00000429829.1 - 0 2449 NR_001564.2 AATTTGTAATGAGAAGCTAAA 0.259000 5 27 0 0 1 0 0 ZC2HC1A 51101 broad.mit.edu 37 8 79609675 79609675 + Missense_Mutation SNP C C G TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr8:79609675C>G ENST00000263849.4 + 6 640 c.538C>G c.(538-540)Cct>Gct p.P180A ZC2HC1A_ENST00000521176.1_3'UTR NM_016010.2 NP_057094.2 Q96GY0 F164A_HUMAN zinc finger, C2HC-type containing 1A 180 GTCAAATTCTCCTGGAACTGC 0.368000 9 55 0 0 1 0 0 CD69 969 broad.mit.edu 37 12 9913402 9913402 + Silent SNP A A G rs149884332 by1000genomes TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr12:9913402A>G ENST00000228434.3 - 1 95 c.15T>C c.(13-15)aaT>aaC p.N5N CD69_ENST00000536709.1_Silent_p.N5N NM_001781.2 NP_001772.1 Q07108 CD69_HUMAN CD69 molecule 5 integral to plasma membrane sugar binding|transmembrane receptor activity endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1) 10 CTACGAAACAATTTTCAGAGC 0.408000 14 88 0 0 1 0 0 TAF12 6883 broad.mit.edu 37 1 28931969 28931969 + Missense_Mutation SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr1:28931969C>T ENST00000263974.4 - 5 799 c.365G>A c.(364-366)cGc>cAc p.R122H TAF12_ENST00000471683.1_5'UTR|TAF12_ENST00000373824.4_Missense_Mutation_p.R122H NM_001135218.1 NP_001128690.1 Q16514 TAF12_HUMAN TAF12 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 20kDa 122 histone H3 acetylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction PCAF complex|STAGA complex|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|transcription coactivator activity ovary(1)|upper_aerodigestive_tract(1) 2 Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Renal(390;0.00121)|Breast(348;0.00502)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123) Colorectal(126;3.21e-08)|COAD - Colon adenocarcinoma(152;1.74e-06)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(1967;0.0109)|BRCA - Breast invasive adenocarcinoma(304;0.0228)|READ - Rectum adenocarcinoma(331;0.0649) GTTCCACTGGCGCTCTGCAAG 0.512000 14 80 0 0 1 0 0 KMT2A 4297 broad.mit.edu 37 11 118382708 118382708 + Nonsense_Mutation SNP C C G TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr11:118382708C>G ENST00000534358.1 + 31 11137 c.11114C>G c.(11113-11115)tCa>tGa p.S3705* RP11-770J1.3_ENST00000532597.1_RNA|KMT2A_ENST00000389506.5_Nonsense_Mutation_p.S3702*|KMT2A_ENST00000354520.4_Nonsense_Mutation_p.S3664* NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A GAAGCTCGATCAAATGCCCGC 0.428000 7 38 0 0 1 0 0 ADAM17 6868 broad.mit.edu 37 2 9637283 9637283 + Silent SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr2:9637283G>A ENST00000310823.3 - 14 1925 c.1743C>T c.(1741-1743)ttC>ttT p.F581F NM_003183.4 NP_003174.3 P78536 ADA17_HUMAN ADAM metallopeptidase domain 17 581 Cys-rich. B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1) 28 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.225) CCCTCTCGCAGAAAGGGATGC 0.507000 31 79 0 0 1 0 0 SCNN1A 6337 broad.mit.edu 37 12 6484078 6484078 + Nonsense_Mutation SNP C C A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr12:6484078C>A ENST00000360168.3 - 1 312 c.49G>T c.(49-51)Gag>Tag p.E17* SCNN1A_ENST00000543768.1_Intron|SCNN1A_ENST00000228916.2_Intron|SCNN1A_ENST00000358945.3_5'UTR|SCNN1A_ENST00000538979.1_Intron NM_001159576.1 NP_001153048.1 P37088 SCNNA_HUMAN sodium channel, non-voltage-gated 1 alpha subunit 22 excretion|response to stimulus|sensory perception of taste apical plasma membrane WW domain binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 27 Amiloride(DB00594)|Triamterene(DB00384) TGAGTGCCCTCTCCCATCACC 0.652000 4 21 0.00024832 0.00025379 1 1 0 BAGE2 85319 broad.mit.edu 37 21 11058322 11058322 + RNA SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr21:11058322C>T ENST00000470054.1 - 0 325 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) AAATGCACATCGCTGAAAGGG 0.383000 5 155 0 0 1 0 0 GLRA2 2742 broad.mit.edu 37 X 14550396 14550396 + Missense_Mutation SNP G G C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chrX:14550396G>C ENST00000218075.4 + 2 634 c.104G>C c.(103-105)gGa>gCa p.G35A GLRA2_ENST00000355020.4_Missense_Mutation_p.G35A|GLRA2_ENST00000443437.2_5'UTR NM_002063.3 NP_002054.1 P23416 GLRA2_HUMAN glycine receptor, alpha 2 35 neuropeptide signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2) 37 Hepatocellular(33;0.128) Ethanol(DB00898)|Glycine(DB00145) TCCAGGTCTGGAAAACAACCT 0.413000 21 78 0 0 1 0 0 PREX2 80243 broad.mit.edu 37 8 68956794 68956794 + Silent SNP G G C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr8:68956794G>C ENST00000288368.4 + 8 1189 c.912G>C c.(910-912)gtG>gtC p.V304V 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 2 304 PH. 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 ACACGGAGGTGATGGAAGTGG 0.413000 13 120 0 0 1 0 0 ARHGAP44 9912 broad.mit.edu 37 17 12819241 12819241 + Missense_Mutation SNP G G C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr17:12819241G>C ENST00000379672.5 + 5 600 c.300G>C c.(298-300)gaG>gaC p.E100D ARHGAP44_ENST00000340825.3_Missense_Mutation_p.E100D|ARHGAP44_ENST00000262444.9_Missense_Mutation_p.E100D NM_014859.4 NP_055674.4 Q17R89 RHG44_HUMAN Rho GTPase activating protein 44 100 BAR. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1) 31 TCTGTGGAGAGACGGAGGACA 0.493000 12 27 0 0 1 0 0 MYT1 4661 broad.mit.edu 37 20 62836958 62836958 + Missense_Mutation SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr20:62836958G>A ENST00000536311.1 + 6 566 c.202G>A c.(202-204)Gag>Aag p.E68K MYT1_ENST00000328439.1_Missense_Mutation_p.E68K|MYT1_ENST00000360149.4_Missense_Mutation_p.E68K Q01538 MYT1_HUMAN myelin transcription factor 1 68 cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) CGCTGAGGCTGAGCACCTGGT 0.622000 15 74 0 0 1 0 0 AMPD3 272 broad.mit.edu 37 11 10514903 10514903 + Missense_Mutation SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr11:10514903C>T ENST00000444303.2 + 6 942 c.470C>T c.(469-471)aCa>aTa p.T157I AMPD3_ENST00000396554.3_Missense_Mutation_p.T325I NM_001172431.1 NP_001165902.1 Q01432 AMPD3_HUMAN adenosine monophosphate deaminase 3 316 AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1) 25 all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291) CAGGTGGACACACACATCCAT 0.577000 44 160 0 0 1 0 0 MKX 283078 broad.mit.edu 37 10 28032225 28032225 + Silent SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr10:28032225G>A ENST00000375790.5 - 2 552 c.120C>T c.(118-120)cgC>cgT p.R40R MKX_ENST00000419761.1_Silent_p.R40R Q8IYA7 MKX_HUMAN mohawk homeobox 40 R -> H (in dbSNP:rs34439626). muscle organ development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2) 16 CCACCTCGGGGCGGGCGTGAG 0.726000 10 33 0 0 1 0 0 TRPC5 7224 broad.mit.edu 37 X 111019559 111019559 + Silent SNP T T C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chrX:111019559T>C ENST00000262839.2 - 11 3822 c.2904A>G c.(2902-2904)caA>caG p.Q968Q NM_012471.2 NP_036603.1 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, subfamily C, member 5 968 axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 GAGTTGTAACTTGTTCTTCCT 0.423000 5 62 0 0 1 0 0 CACNA1A 773 broad.mit.edu 37 19 13476201 13476201 + Silent SNP A A G TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr19:13476201A>G ENST00000360228.5 - 5 713 c.714T>C c.(712-714)ctT>ctC p.L238L CACNA1A_ENST00000573710.2_Silent_p.L238L NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2 NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2 O00555 CAC1A_HUMAN calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 238 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) TTGCAAAAATAAGGATTGCAA 0.458000 14 95 0 0 1 0 0 GRM3 2913 broad.mit.edu 37 7 86394792 86394792 + Nonsense_Mutation SNP G G T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr7:86394792G>T ENST00000361669.2 + 2 1430 c.331G>T c.(331-333)Gag>Tag p.E111* GRM3_ENST00000394720.2_Nonsense_Mutation_p.E109*|GRM3_ENST00000536043.1_Intron|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000439827.1_Nonsense_Mutation_p.E111* NM_000840.2 NP_000831.2 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 111 synaptic transmission integral to plasma membrane NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) GCAATCACTGGAGTTTGTCAG 0.418000 5 182 1.23904e-05 1.27193e-05 1 1 0 NUMB 8650 broad.mit.edu 37 14 73753886 73753886 + Missense_Mutation SNP C C G TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr14:73753886C>G ENST00000556772.1 - 3 2442 c.155G>C c.(154-156)cGt>cCt p.R52P NUMB_ENST00000355058.3_Missense_Mutation_p.R196P|NUMB_ENST00000359560.3_Missense_Mutation_p.R185P|NUMB_ENST00000557597.1_Missense_Mutation_p.R185P|NUMB_ENST00000356296.4_Missense_Mutation_p.R196P|NUMB_ENST00000454166.4_Missense_Mutation_p.R196P|NUMB_ENST00000555738.2_Missense_Mutation_p.R185P|NUMB_ENST00000544991.3_Missense_Mutation_p.R196P|NUMB_ENST00000559312.1_Missense_Mutation_p.R196P|NUMB_ENST00000555394.1_Missense_Mutation_p.R196P|NUMB_ENST00000554546.1_Missense_Mutation_p.R185P|NUMB_ENST00000535282.1_Missense_Mutation_p.R185P|NUMB_ENST00000560335.1_Missense_Mutation_p.R196P|NUMB_ENST00000555238.1_Missense_Mutation_p.R196P|NUMB_ENST00000554521.2_Missense_Mutation_p.R185P P49757 NUMB_HUMAN numb homolog (Drosophila) 196 PID. axon guidance|lateral ventricle development|neuroblast division in subventricular zone|positive regulation of neurogenesis integral to plasma membrane breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1) 28 BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161) TGTTGTGACACGGAATGATCC 0.448000 14 83 0 0 1 0 0 FGD1 2245 broad.mit.edu 37 X 54496484 54496484 + Missense_Mutation SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chrX:54496484G>A ENST00000375135.3 - 4 1799 c.1066C>T c.(1066-1068)Cca>Tca p.P356S NM_004463.2 NP_004454.2 P98174 FGD1_HUMAN FYVE, RhoGEF and PH domain containing 1 356 actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 AGGGGCACTGGGATTTCTCTG 0.597000 9 33 0 0 1 0 0 UBR4 23352 broad.mit.edu 37 1 19487443 19487443 + Missense_Mutation SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr1:19487443C>T ENST00000375267.2 - 38 5377 c.5374G>A c.(5374-5376)Gta>Ata p.V1792I UBR4_ENST00000375217.2_Missense_Mutation_p.V1792I|UBR4_ENST00000375254.3_Missense_Mutation_p.V1792I|UBR4_ENST00000375226.2_Missense_Mutation_p.V1792I Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 1792 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) CAGCCCTCTACTGTGCGGCAG 0.542000 7 46 0 0 1 0 0 C11orf80 79703 broad.mit.edu 37 11 66605889 66605889 + Missense_Mutation SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr11:66605889G>A ENST00000360962.4 + 15 1727 c.1720G>A c.(1720-1722)Gat>Aat p.D574N C11orf80_ENST00000540737.1_Missense_Mutation_p.D408N|C11orf80_ENST00000525449.2_Missense_Mutation_p.D382N|C11orf80_ENST00000346672.4_Missense_Mutation_p.D383N|C11orf80_ENST00000532565.2_Missense_Mutation_p.D356N|C11orf80_ENST00000527634.1_Missense_Mutation_p.D357N NM_024650.3 NP_078926.3 Q8N6T0 CK080_HUMAN chromosome 11 open reading frame 80 419 autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 14 GGACGCACCTGATAACAGCAG 0.443000 11 58 0 0 1 0 0 CNBD1 168975 broad.mit.edu 37 8 88218312 88218312 + Silent SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr8:88218312C>T ENST00000518476.1 + 5 574 c.523C>T c.(523-525)Ctg>Ttg p.L175L CNBD1_ENST00000522427.1_3'UTR NM_173538.2 NP_775809.1 Q8NA66 CNBD1_HUMAN cyclic nucleotide binding domain containing 1 175 breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1) 32 TGATAAGCATCTGAAAACACT 0.398000 5 30 0 0 1 0 0 IL12RB1 3594 broad.mit.edu 37 19 18174767 18174767 + Missense_Mutation SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr19:18174767C>T ENST00000600835.2 - 14 1835 c.1537G>A c.(1537-1539)Ggt>Agt p.G513S IL12RB1_ENST00000593993.2_Missense_Mutation_p.G513S P42701 I12R1_HUMAN interleukin 12 receptor, beta 1 Fibronectin type-III 5. cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response interleukin-12 receptor complex|interleukin-23 receptor complex cytokine receptor activity endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2) 8 TAGGCTACACCAGCCCGCAGG 0.637000 6 29 0 0 1 0 0 KIAA0947 23379 broad.mit.edu 37 5 5464640 5464640 + Silent SNP C C G TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr5:5464640C>G ENST00000296564.7 + 13 5415 c.5193C>G c.(5191-5193)ctC>ctG p.L1731L NM_015325.2 NP_056140.1 Q9Y2F5 K0947_HUMAN KIAA0947 1731 Pro-rich. breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1) 35 CTGGCCGACTCCCACCCTGTG 0.597000 7 47 0 0 1 0 0 C10orf25 220979 broad.mit.edu 37 10 45496299 45496299 + Silent SNP C C A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr10:45496299C>A ENST00000298298.1 - 1 37 c.9G>T c.(7-9)ccG>ccT p.P3P ZNF22_ENST00000298299.3_5'UTR NM_001039380.2 NP_001034469.2 Q5T742 CJ025_HUMAN chromosome 10 open reading frame 25 3 extracellular region endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1) 6 CGGGTGGGCCCGGGACCATAG 0.672000 4 8 1 1 1 1 0 PRF1 5551 broad.mit.edu 37 10 72358594 72358594 + Missense_Mutation SNP T T C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr10:72358594T>C ENST00000441259.1 - 3 1043 c.883A>G c.(883-885)Acc>Gcc p.T295A PRF1_ENST00000373209.2_Missense_Mutation_p.T295A NM_001083116.1|NM_005041.4 NP_001076585.1|NP_005032.2 P14222 PERF_HUMAN perforin 1 (pore forming protein) 295 MACPF. apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane calcium ion binding|protein binding|wide pore channel activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3) 23 TCCCGGTAGGTTTGGTGGAAG 0.607000 M """various leukaemia, lymphoma""" Type 2 familial hemophagocytic lymphohistiocytosis Familial Hemophagocytic Lymphohistiocytosis 27 73 0 0 1 0 0 NUP210L 91181 broad.mit.edu 37 1 154112367 154112367 + Missense_Mutation SNP C C G TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr1:154112367C>G ENST00000368559.3 - 5 699 c.628G>C c.(628-630)Gag>Cag p.E210Q NUP210L_ENST00000271854.3_Missense_Mutation_p.E210Q NM_207308.2 NP_997191.2 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like 210 integral to membrane NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2) 80 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) TGTTTCTCCTCTTTTTCCATC 0.338000 105 243 0 0 1 0 0 KMT2B 9757 broad.mit.edu 37 19 36221656 36221656 + Nonsense_Mutation SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr19:36221656G>A ENST00000222270.7 + 26 5325 c.5325G>A c.(5323-5325)tgG>tgA p.W1775* KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Nonsense_Mutation_p.W1775* NM_014727.1 NP_055542.1 lysine (K)-specific methyltransferase 2B GGCGCTGCTGGTATCGGTGCC 0.597000 11 70 0 0 1 0 0 BAG5 9529 broad.mit.edu 37 14 104027261 104027261 + Missense_Mutation SNP C C G TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr14:104027261C>G ENST00000445922.2 - 2 487 c.241G>C c.(241-243)Gag>Cag p.E81Q BAG5_ENST00000337322.4_Missense_Mutation_p.E122Q|RP11-894P9.2_ENST00000556332.1_RNA|BAG5_ENST00000299204.4_Missense_Mutation_p.E81Q NM_004873.3 NP_004864.1 Q9UL15 BAG5_HUMAN BCL2-associated athanogene 5 81 BAG 1. apoptosis|negative regulation of protein refolding|negative regulation of ubiquitin-protein ligase activity|neuron death|protein folding|regulation of inclusion body assembly inclusion body|perinuclear region of cytoplasm chaperone binding|ubiquitin protein ligase binding endometrium(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2) 24 Melanoma(154;0.155) Epithelial(46;0.144) TGCTCCAACTCTTTGAGAAGA 0.428000 24 109 0 0 1 0 0 ARHGAP35 2909 broad.mit.edu 37 19 47440647 47440647 + Nonsense_Mutation SNP G G T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr19:47440647G>T ENST00000404338.3 + 2 3808 c.3808G>T c.(3808-3810)Gag>Tag p.E1270* NM_004491.4 NP_004482.4 Q9NRY4 RHG35_HUMAN Rho GTPase activating protein 35 1270 Rho-GAP. axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol DNA binding|Rho GTPase activator activity|transcription corepressor activity AAGATGTATTGAGTACATTGA 0.433000 16 65 2.94398e-08 3.0628e-08 1 1 0 KEAP1 9817 broad.mit.edu 37 19 10610363 10610363 + Missense_Mutation SNP C C G TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr19:10610363C>G ENST00000171111.5 - 2 894 c.347G>C c.(346-348)cGg>cCg p.R116P KEAP1_ENST00000393623.2_Missense_Mutation_p.R116P NM_203500.1 NP_987096.1 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 116 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 92 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) GCCCTGCTCCCGCAGCCCGTT 0.612000 11 58 0 0 1 0 0 TACC2 10579 broad.mit.edu 37 10 123846852 123846852 + Missense_Mutation SNP G G T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr10:123846852G>T ENST00000369005.1 + 4 5177 c.4837G>T c.(4837-4839)Gat>Tat p.D1613Y TACC2_ENST00000334433.3_Missense_Mutation_p.D1613Y|TACC2_ENST00000453444.2_Missense_Mutation_p.D1613Y|TACC2_ENST00000515273.1_Missense_Mutation_p.D1613Y|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.D1613Y NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 1613 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) ACATGGAGAAGATGGTCCCGG 0.582000 22 69 4.35082e-09 4.5468e-09 1 1 0 TXNIP 10628 broad.mit.edu 37 1 145439609 145439609 + Silent SNP G G C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr1:145439609G>C ENST00000369317.4 + 2 601 c.267G>C c.(265-267)gtG>gtC p.V89V TXNIP_ENST00000475171.1_Intron NM_006472.3 NP_006463.3 Q9H3M7 TXNIP_HUMAN thioredoxin interacting protein 89 cell cycle|keratinocyte differentiation|transcription, DNA-dependent ubiquitin protein ligase binding breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 21 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) ATGAGATGGTGATCATGAGAC 0.403000 17 131 0 0 1 0 0 ATAD2 29028 broad.mit.edu 37 8 124383508 124383508 + Missense_Mutation SNP C C G TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr8:124383508C>G ENST00000287394.5 - 5 714 c.607G>C c.(607-609)Gaa>Caa p.E203Q ATAD2_ENST00000521903.1_5'UTR NM_014109.3 NP_054828.2 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 203 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 48 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) CCCAAGTCTTCAAGTTCTCTC 0.308000 8 28 0 0 1 0 0 LINC00691 152024 broad.mit.edu 37 3 24138674 24138674 + RNA SNP T T G TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr3:24138674T>G ENST00000436123.1 - 0 2049 TTGCCTCTGCTTCAACAATGT 0.418000 3 10 0 0 1 0 0 SCRIB 23513 broad.mit.edu 37 8 144886946 144886946 + Missense_Mutation SNP A A T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr8:144886946A>T ENST00000356994.2 - 21 2807 c.2801T>A c.(2800-2802)cTg>cAg p.L934Q SCRIB_ENST00000320476.3_Missense_Mutation_p.L934Q|SCRIB_ENST00000377533.3_Missense_Mutation_p.L853Q NM_182706.4 NP_874365 Q14160 SCRIB_HUMAN scribbled planar cell polarity protein 934 Interaction with ARHGEF7.|PDZ 2. activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction cell-cell adherens junction|Scrib-APC-beta-catenin complex protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 42 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) AGCGGTCAGCAGGGAGACGGC 0.662000 4 22 0 0 1 0 0 COCH 1690 broad.mit.edu 37 14 31354171 31354171 + Missense_Mutation SNP G G C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr14:31354171G>C ENST00000382493.4 + 3 310 c.210G>C c.(208-210)caG>caC p.Q70H RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000396618.3_Intron|COCH_ENST00000216361.4_Intron|COCH_ENST00000475087.1_Intron|COCH_ENST00000460581.2_Intron|RP11-829H16.3_ENST00000555421.1_RNA O43405 COCH_HUMAN cochlin 244 LCCL. sensory perception of sound proteinaceous extracellular matrix central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3) 19 Hepatocellular(127;0.0877)|Breast(36;0.148) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805) GBM - Glioblastoma multiforme(265;0.00645) AAAATCAACAGACTTATCTAA 0.358000 20 60 0 0 1 0 0 GOLIM4 27333 broad.mit.edu 37 3 167750586 167750586 + Missense_Mutation SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr3:167750586C>T ENST00000470487.1 - 9 1587 c.898G>A c.(898-900)Gaa>Aaa p.E300K GOLIM4_ENST00000309027.4_Missense_Mutation_p.E272K NM_014498.3 NP_055313.1 O00461 GOLI4_HUMAN golgi integral membrane protein 4 300 transport cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 TTTGTGTCTTCTGCTCTTCCA 0.483000 57 78 0 0 1 0 0 RFX3 5991 broad.mit.edu 37 9 3330299 3330299 + Missense_Mutation SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr9:3330299C>T ENST00000382004.3 - 5 745 c.434G>A c.(433-435)gGt>gAt p.G145D RFX3_ENST00000302303.1_Missense_Mutation_p.G145D|RFX3_ENST00000358730.2_Missense_Mutation_p.G145D NM_001282116.1|NM_134428.1 NP_001269045.1|NP_602304.1 P48380 RFX3_HUMAN regulatory factor X, 3 (influences HLA class II expression) 145 cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion nuclear chromatin protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337) CACTGAGTGACCAGAATTCTC 0.458000 7 63 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49444142 49444142 + Nonsense_Mutation SNP T T A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr12:49444142T>A ENST00000301067.7 - 11 3228 c.3229A>T c.(3229-3231)Aaa>Taa p.K1077* NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D TCTGAAACTTTCTCAGTCTCC 0.617000 5 24 0 0 1 0 0 SIK2 23235 broad.mit.edu 37 11 111558772 111558772 + Nonsense_Mutation SNP A A T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr11:111558772A>T ENST00000304987.3 + 4 537 c.364A>T c.(364-366)Aaa>Taa p.K122* NM_015191.1 NP_056006.1 Q9H0K1 SIK2_HUMAN salt-inducible kinase 2 122 Protein kinase. intracellular protein kinase cascade|regulation of insulin receptor signaling pathway Golgi apparatus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 30 AGCCAGGCGAAAATTCTGGCA 0.403000 13 56 0 0 1 0 0 GPLD1 2822 broad.mit.edu 37 6 24429286 24429286 + Missense_Mutation SNP G G C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr6:24429286G>C ENST00000230036.1 - 25 2607 c.2497C>G c.(2497-2499)Cac>Gac p.H833D NM_001503.3 NP_001494.2 P80108 PHLD_HUMAN glycosylphosphatidylinositol specific phospholipase D1 833 extracellular region glycosylphosphatidylinositol phospholipase D activity breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 32 CTATAGACGTGAAGTGCCCCG 0.488000 8 48 0 0 1 0 0 PIAS3 10401 broad.mit.edu 37 1 145584822 145584822 + Missense_Mutation SNP C C A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr1:145584822C>A ENST00000393045.2 + 13 1696 c.1606C>A c.(1606-1608)Cag>Aag p.Q536K PIAS3_ENST00000369298.1_Missense_Mutation_p.Q501K NM_006099.3 NP_006090.2 Q9Y6X2 PIAS3_HUMAN protein inhibitor of activated STAT, 3 536 positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2) 28 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TTCATTTCTTCAGACAGAGAG 0.423000 30 76 7.11191e-15 7.63872e-15 1 1 0 HKDC1 80201 broad.mit.edu 37 10 71002944 71002944 + Missense_Mutation SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr10:71002944G>A ENST00000354624.5 + 7 831 c.698G>A c.(697-699)gGc>gAc p.G233D HKDC1_ENST00000395086.2_Missense_Mutation_p.G233D NM_025130.3 NP_079406 Q2TB90 HKDC1_HUMAN hexokinase domain containing 1 233 glycolysis mitochondrion|nucleus ATP binding|hexokinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 TCAGGAACTGGCACCAATGCG 0.562000 21 114 0 0 1 0 0 ARVCF 421 broad.mit.edu 37 22 19960805 19960805 + Missense_Mutation SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr22:19960805G>A ENST00000263207.3 - 14 2566 c.2275C>T c.(2275-2277)Cgc>Tgc p.R759C ARVCF_ENST00000401994.1_Missense_Mutation_p.R696C|ARVCF_ENST00000406522.1_Missense_Mutation_p.R690C|ARVCF_ENST00000406259.1_Missense_Mutation_p.R753C|ARVCF_ENST00000344269.3_Missense_Mutation_p.R696C NM_001670.2 NP_001661.1 O00192 ARVC_HUMAN armadillo repeat gene deleted in velocardiofacial syndrome 759 cell adhesion|multicellular organismal development protein binding NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2) 13 Colorectal(54;0.0993) TGTGCATTGCGCACATTCCGC 0.637000 5 20 0 0 1 0 0 GIN1 54826 broad.mit.edu 37 5 102432327 102432327 + Silent SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr5:102432327C>T ENST00000399004.2 - 7 1306 c.1212G>A c.(1210-1212)ctG>ctA p.L404L GIN1_ENST00000508629.1_Intron NM_017676.2 NP_060146.2 Q9NXP7 GIN1_HUMAN gypsy retrotransposon integrase 1 404 DNA integration DNA binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283) Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794) TGTTGTCTCTCAGGACAGCAC 0.413000 47 179 0 0 1 0 0 ARID2 196528 broad.mit.edu 37 12 46125015 46125015 + Nonsense_Mutation SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr12:46125015C>T ENST00000334344.6 + 3 374 c.202C>T c.(202-204)Cag>Tag p.Q68* ARID2_ENST00000422737.1_5'UTR NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 68 ARID. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) TGAGAAGAATCAGTGGGGAGA 0.378000 """N, S, F""" hepatocellular carcinoma 16 64 0 0 1 0 0 SENP8 123228 broad.mit.edu 37 15 72432366 72432366 + Missense_Mutation SNP G G C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr15:72432366G>C ENST00000544411.1 + 3 889 c.402G>C c.(400-402)gaG>gaC p.E134D SENP8_ENST00000542035.2_Missense_Mutation_p.E134D|SENP8_ENST00000544171.1_Missense_Mutation_p.E134D|SENP8_ENST00000340912.4_Missense_Mutation_p.E134D NM_001172109.1|NM_001172110.1 NP_001165580.1|NP_001165581.1 Q96LD8 SENP8_HUMAN SUMO/sentrin specific peptidase family member 8 134 Protease. proteolysis cysteine-type peptidase activity|protein binding breast(1)|kidney(2)|lung(1)|ovary(1)|skin(1) 6 AGGTAGCAGAGAAACTGGAGG 0.453000 11 74 0 0 1 0 0 NUP153 9972 broad.mit.edu 37 6 17675190 17675190 + Silent SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr6:17675190G>A ENST00000262077.2 - 5 797 c.798C>T c.(796-798)taC>taT p.Y266Y NUP153_ENST00000537253.1_Silent_p.Y266Y NM_005124.2 NP_005115.2 P49790 NU153_HUMAN nucleoporin 153kDa 266 carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm DNA binding|protein binding|transporter activity|zinc ion binding NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2) 53 Breast(50;0.0259)|Ovarian(93;0.0584) all_hematologic(90;0.125) all cancers(50;0.0981)|Epithelial(50;0.112) CTGCCCCACCGTATGTTGTTT 0.373000 17 60 0 0 1 0 0 PAMR1 25891 broad.mit.edu 37 11 35454248 35454248 + Missense_Mutation SNP C C T rs148541461 TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr11:35454248C>T ENST00000378880.2 - 11 2264 c.1819G>A c.(1819-1821)Gtg>Atg p.V607M PAMR1_ENST00000532848.1_Missense_Mutation_p.V567M|PAMR1_ENST00000378878.3_Missense_Mutation_p.V496M|PAMR1_ENST00000278360.3_Missense_Mutation_p.V624M NM_001001991.1 NP_001001991.1 Q6UXH9 PAMR1_HUMAN peptidase domain containing associated with muscle regeneration 1 607 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 26 GGGCTCCTCACGTCTGCCAGG 0.617000 10 56 0 0 1 0 0 TRGV3 6976 broad.mit.edu 37 7 38398650 38398650 + RNA SNP A A C rs76431362 TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr7:38398650A>C ENST00000390346.2 - 0 113 CTTAAAACTCAGGCCCCACTC 0.527000 3 11 0 0 1 0 0 KIAA1984 84960 broad.mit.edu 37 9 139698986 139698986 + Missense_Mutation SNP C C G TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr9:139698986C>G ENST00000338005.6 + 7 734 c.699C>G c.(697-699)atC>atG p.I233M KIAA1984-AS1_ENST00000414656.1_RNA|RP11-216L13.19_ENST00000415992.1_RNA|KIAA1984_ENST00000371682.3_3'UTR|RP11-216L13.18_ENST00000471502.1_RNA NM_001039374.4 NP_001034463.4 Q5T5S1 K1984_HUMAN KIAA1984 233 biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 13 all_cancers(76;0.0882)|all_epithelial(76;0.228) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124) CGTCCTTCATCGAGGAGCGCC 0.602000 30 43 0 0 1 0 0 DMRTA2 63950 broad.mit.edu 37 1 50884577 50884577 + Silent SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr1:50884577G>A ENST00000404795.3 - 3 1781 c.1389C>T c.(1387-1389)ctC>ctT p.L463L DMRTA2_ENST00000418121.1_Silent_p.L463L NM_032110.2 NP_115486.1 Q96SC8 DMTA2_HUMAN DMRT-like family A2 463 Ala-rich. sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity endometrium(1)|lung(4)|pancreas(1) 6 GCAGGGGGCTGAGGCCGAGCG 0.756000 6 6 0 0 1 0 0 ZNF660 285349 broad.mit.edu 37 3 44635868 44635868 + Missense_Mutation SNP G G C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr3:44635868G>C ENST00000322734.2 + 3 516 c.183G>C c.(181-183)caG>caC p.Q61H RP11-944L7.4_ENST00000457331.1_RNA NM_173658.2 NP_775929.2 Q6AZW8 ZN660_HUMAN zinc finger protein 660 61 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(2)|lung(4) 6 KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585) CCTTTAGTCAGAGTGCAAACC 0.438000 14 42 0 0 1 0 0 CROCCP2 84809 broad.mit.edu 37 1 16953703 16953703 + RNA SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr1:16953703G>A ENST00000412962.1 - 0 558 GCAGCGTGGCGCGGCTCAGCG 0.637000 6 100 0 0 1 0 0 MYBPC2 4606 broad.mit.edu 37 19 50939937 50939937 + Missense_Mutation SNP G G C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr19:50939937G>C ENST00000357701.5 + 5 460 c.409G>C c.(409-411)Gag>Cag p.E137Q NM_004533.3 NP_004524.3 Q14324 MYPC2_HUMAN myosin binding protein C, fast type 137 Ig-like C2-type 1. cell adhesion|muscle filament sliding cytosol|myosin filament actin binding|structural constituent of muscle breast(1) 1 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144) TTACCGCCTCGAGGTCAAAGC 0.612000 24 115 0 0 1 0 0 GOLGA1 2800 broad.mit.edu 37 9 127642825 127642825 + Missense_Mutation SNP C C T rs146171341 by1000genomes TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr9:127642825C>T ENST00000373555.4 - 23 2621 c.2288G>A c.(2287-2289)cGg>cAg p.R763Q NM_002077.3 NP_002068 Q92805 GOGA1_HUMAN golgin A1 763 Golgi cisterna membrane NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1) 20 CCATGGTATCCGAGGGTTTGA 0.502000 23 169 0 0 1 0 0 ZFYVE26 23503 broad.mit.edu 37 14 68228128 68228128 + Silent SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr14:68228128C>T ENST00000347230.4 - 35 6681 c.6543G>A c.(6541-6543)gtG>gtA p.V2181V ZFYVE26_ENST00000555452.1_Silent_p.V2181V|ZFYVE26_ENST00000557306.1_Silent_p.V27V NM_015346.3 NP_056161.2 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 2181 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 94 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) AGCTGTGCCTCACGTAGAAGC 0.517000 6 24 0 0 1 0 0 SENP7 57337 broad.mit.edu 37 3 101060534 101060534 + Silent SNP T T C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr3:101060534T>C ENST00000394095.2 - 15 2249 c.2196A>G c.(2194-2196)ccA>ccG p.P732P SENP7_ENST00000394091.1_Silent_p.P568P|SENP7_ENST00000348610.3_Silent_p.P699P|SENP7_ENST00000314261.7_Silent_p.P666P|SENP7_ENST00000358203.3_Silent_p.P568P|SENP7_ENST00000394094.2_Silent_p.P667P NM_001282802.1|NM_020654.3 NP_001269731.1|NP_065705.3 Q9BQF6 SENP7_HUMAN SUMO1/sentrin specific peptidase 7 732 proteolysis nucleus cysteine-type peptidase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 ATTCTTCATCTGGATTAGATG 0.433000 28 38 0 0 1 0 0 IRF2BP1 26145 broad.mit.edu 37 19 46387808 46387808 + Missense_Mutation SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr19:46387808C>T ENST00000302165.3 - 1 1568 c.1225G>A c.(1225-1227)Ggc>Agc p.G409S NM_015649.1 NP_056464.1 Q8IU81 I2BP1_HUMAN interferon regulatory factor 2 binding protein 1 409 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus cervix(1)|kidney(1)|lung(2) 4 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231) TACGGGCCGCCGGGTGCCACC 0.721000 10 53 0 0 1 0 0 RARA 5914 broad.mit.edu 37 17 38498963 38498963 + Missense_Mutation SNP G G C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr17:38498963G>C ENST00000394081.3 + 1 349 c.7G>C c.(7-9)Gag>Cag p.E3Q RARA_ENST00000254066.5_Intron|RARA_ENST00000425707.3_Intron|CTD-2267D19.2_ENST00000581080.1_RNA|RARA_ENST00000394089.2_Intron|RARA_ENST00000394086.3_Intron NM_001024809.3 NP_001019980.1 P10276 RARA_HUMAN retinoic acid receptor, alpha 0 Modulating. apoptotic cell clearance|cellular response to estrogen stimulus|cellular response to retinoic acid|estrogen receptor signaling pathway|negative regulation of granulocyte differentiation|negative regulation of interferon-gamma production|negative regulation of tumor necrosis factor production|positive regulation of binding|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-5 production|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus cytoplasm|nucleoplasm chromatin DNA binding|enzyme binding|protein domain specific binding|protein heterodimerization activity|receptor binding|retinoic acid binding|retinoic acid receptor activity|retinoic acid-responsive element binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding breast(1)|kidney(4)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|urinary_tract(2) 16 Breast(137;0.00328) STAD - Stomach adenocarcinoma(5;0.00143) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799) AAAGATGTACGAGAGTGTAGA 0.632000 T """PML, ZNF145, TIF1, NUMA1, NPM1""" APL 21 101 0 0 1 0 0 OLFM3 118427 broad.mit.edu 37 1 102312479 102312479 + Missense_Mutation SNP C C G TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr1:102312479C>G ENST00000338858.5 - 1 50 c.51G>C c.(49-51)atG>atC p.M17I OLFM3_ENST00000462354.1_Intron|OLFM3_ENST00000359814.3_Missense_Mutation_p.M17I|OLFM3_ENST00000370103.4_Intron Q96PB7 NOE3_HUMAN olfactomedin 3 17 extracellular region breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2) 43 all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189) all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145) AGTTTGAGATCATTGCCATGG 0.507000 24 91 0 0 1 0 0 SEMA4G 57715 broad.mit.edu 37 10 102738085 102738085 + Missense_Mutation SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr10:102738085G>A ENST00000210633.3 + 5 547 c.469G>A c.(469-471)Gag>Aag p.E157K MRPL43_ENST00000318325.2_3'UTR|SEMA4G_ENST00000519756.1_3'UTR|SEMA4G_ENST00000517724.1_Missense_Mutation_p.E157K|SEMA4G_ENST00000370250.4_Missense_Mutation_p.E157K Q9NTN9 SEM4G_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G 157 Sema. cell differentiation|nervous system development integral to membrane receptor activity breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 Colorectal(252;0.234) Epithelial(162;3.71e-09)|all cancers(201;2.1e-07) AACCAGCTTCGAGGAGGGGAA 0.532000 5 10 0 0 1 0 0 MFF 56947 broad.mit.edu 37 2 228195544 228195544 + Missense_Mutation SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr2:228195544G>A ENST00000353339.3 + 4 682 c.241G>A c.(241-243)Gag>Aag p.E81K MFF_ENST00000476924.1_Intron|MFF_ENST00000392059.1_Missense_Mutation_p.E81K|MFF_ENST00000354503.6_Missense_Mutation_p.E55K|MFF_ENST00000337110.7_Missense_Mutation_p.E55K|MFF_ENST00000304593.9_Missense_Mutation_p.E55K|MFF_ENST00000409616.1_Missense_Mutation_p.E55K|MFF_ENST00000409565.1_Missense_Mutation_p.E55K|MFF_ENST00000349901.7_Missense_Mutation_p.E55K|MFF_ENST00000524634.1_Intron NM_001277061.1 NP_001263990.1 Q9GZY8 MFF_HUMAN mitochondrial fission factor 81 integral to membrane|mitochondrial outer membrane breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2) 21 GCAAGTTCCGGAGAGGATTGT 0.388000 9 29 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 4 77 0 0 1 0 0 FAM169A 26049 broad.mit.edu 37 5 74077445 74077445 + Missense_Mutation SNP G G C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr5:74077445G>C ENST00000389156.4 - 13 1943 c.1853C>G c.(1852-1854)tCt>tGt p.S618C FAM169A_ENST00000380515.3_3'UTR|FAM169A_ENST00000510496.1_Missense_Mutation_p.S558C NM_015566.2 NP_056381.1 Q9Y6X4 F169A_HUMAN family with sequence similarity 169, member A 618 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1) 27 TTGCTCGGAAGATGCTTCAGA 0.468000 21 134 0 0 1 0 0 MEPCE 56257 broad.mit.edu 37 7 100028509 100028509 + Missense_Mutation SNP C C A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr7:100028509C>A ENST00000310512.2 + 1 1256 c.868C>A c.(868-870)Ctc>Atc p.L290I MEPCE_ENST00000414441.1_5'UTR NM_019606.5 NP_062552.2 Q7L2J0 MEPCE_HUMAN methylphosphate capping enzyme 290 methyltransferase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 24 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CACAGCCCCTCTCACCCCCTT 0.667000 36 102 4.34311e-12 4.62202e-12 1 1 0 NFASC 23114 broad.mit.edu 37 1 204953164 204953164 + Missense_Mutation SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr1:204953164C>T ENST00000367172.4 + 22 2808 c.2480C>T c.(2479-2481)gCt>gTt p.A827V NFASC_ENST00000404076.1_Missense_Mutation_p.A806V|NFASC_ENST00000367171.4_Missense_Mutation_p.A812V|NFASC_ENST00000338515.6_Missense_Mutation_p.A827V|NFASC_ENST00000367169.4_Intron|NFASC_ENST00000339876.6_Intron|NFASC_ENST00000539706.1_Missense_Mutation_p.A823V|NFASC_ENST00000513543.1_Missense_Mutation_p.A823V|NFASC_ENST00000338586.6_Missense_Mutation_p.A827V|NFASC_ENST00000404907.1_Missense_Mutation_p.A823V|NFASC_ENST00000360049.4_Missense_Mutation_p.A823V|NFASC_ENST00000367170.4_Missense_Mutation_p.A827V|NFASC_ENST00000401399.1_Intron O94856 NFASC_HUMAN neurofascin 827 Fibronectin type-III 3. axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 81 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) GATCCCAGGGCTGCGCCCACT 0.562000 13 32 0 0 1 0 0 CPAMD8 27151 broad.mit.edu 37 19 17088246 17088246 + Missense_Mutation SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr19:17088246C>T ENST00000443236.1 - 15 1862 c.1831G>A c.(1831-1833)Gtc>Atc p.V611I CPAMD8_ENST00000388925.4_Intron NM_015692.2 NP_056507.2 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain containing 8 564 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 TTCTCCCTGACGTAGAAGACC 0.592000 16 94 0 0 1 0 0 PCDHGB4 8641 broad.mit.edu 37 5 140767492 140767497 + In_Frame_Del DEL TGCCAG TGCCAG - TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr5:140767492_140767497delTGCCAG ENST00000519479.1 + 1 41_46 c.41_46delTGCCAG c.(40-48)ctgccagtg>ctg p.PV15del PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron NM_003736.2|NM_018925.2|NM_032098.1 NP_003727.1|NP_061748.1|NP_115269.1 p.P15_V16delPV(1) endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2) 37 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTGAGAGGCTGCCAGTGCTCTTTCT 0.617 OREG0016859 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 3 --- --- --- --- OVOS2 144203 broad.mit.edu 37 12 31270080 31270081 + RNA INS - - AAA rs112314315 TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr12:31270080_31270081insAAA ENST00000542490.1 - 0 52 central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1) 41 CGTTAAACTGGATCTCACTGGA 0.505 8 15 --- --- --- --- KLF5 688 broad.mit.edu 37 13 73636680 73636683 + Frame_Shift_Del DEL CAAG CAAG - TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr13:73636680_73636683delCAAG ENST00000377687.4 + 2 1479_1482 c.943_946delCAAG c.(943-948)caagcafs p.QA315fs KLF5_ENST00000477333.1_3'UTR|KLF5_ENST00000539231.1_Frame_Shift_Del_p.QA224fs NM_001730.3 NP_001721.2 Q13887 KLF5_HUMAN Kruppel-like factor 5 (intestinal) 315 transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Prostate(6;0.00187)|Breast(118;0.0735) GBM - Glioblastoma multiforme(99;0.0011) TCCAGATAGACAAGCAGAGATGCT 0.495 19 142 --- --- --- --- RP11-597A11.1 0 broad.mit.edu 37 14 20138377 20138377 + RNA DEL A A - TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr14:20138377delA ENST00000548261.1 + 0 391 CAaaagaaagaaagaaagaaa 0.383 6 11 --- --- --- --- OR4M1 441670 broad.mit.edu 37 14 20248931 20248931 + Frame_Shift_Del DEL G G - TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr14:20248931delG ENST00000315957.4 + 1 531 c.450delG c.(448-450)atgfs p.M150fs NM_001005500.1 NP_001005500.1 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, member 1 150 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2) 42 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TCTCCTGGATGGGGGGCTTCA 0.502 7 582 --- --- --- --- ZFP36L1 677 broad.mit.edu 37 14 69256630 69256631 + Frame_Shift_Ins INS - - G TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr14:69256630_69256631insG ENST00000439696.2 - 2 937_938 c.636_637insC c.(634-639)gccaccfs p.T213fs ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Frame_Shift_Ins_p.T213fs NM_001244701.1|NM_004926.3 NP_001231630.1|NP_004917.2 Q07352 TISB_HUMAN ZFP36 ring finger protein-like 1 213 regulation of mRNA stability cytosol|nucleus DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1) 21 all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) gcagcggcggtggcagcggcAC 0.693 OREG0022753 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 30 140 --- --- --- --- FBN1 2200 broad.mit.edu 37 15 48826273 48826286 + Splice_Site DEL TTACCTTCACATTT TTACCTTCACATTT - TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr15:48826273_48826286delTTACCTTCACATTT ENST00000316623.5 - 8 1308_1318 c.853_863delAAATGTGAAGGTAA c.(853-864)aaatgtgaaggt>t p.KCEG285fs NM_000138.4 NP_000129 P35555 FBN1_HUMAN fibrillin 1 285 EGF-like 4; calcium-binding. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) ATAAGATTTCTTACCTTCACATTTTTGTGACACT 0.435 11 586 --- --- --- --- HCFC1R1 54985 broad.mit.edu 37 16 3073515 3073517 + In_Frame_Del DEL CTC CTC - TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr16:3073515_3073517delCTC ENST00000248089.3 - 2 414_416 c.110_112delGAG c.(109-114)ggagct>gct p.G37del HCFC1R1_ENST00000574151.1_Intron|HCFC1R1_ENST00000574980.1_In_Frame_Del_p.G37del|HCFC1R1_ENST00000354679.3_Intron|HCFC1R1_ENST00000572355.1_5'UTR|HCFC1R1_ENST00000396916.1_In_Frame_Del_p.G37del NM_017885.2 NP_060355.1 Q9NWW0 HPIP_HUMAN host cell factor C1 regulator 1 (XPO1 dependent) 37 cytoplasm|nucleus breast(1)|large_intestine(1)|upper_aerodigestive_tract(1) 3 ATGGGCACAGCTCCTCGGAGAGG 0.626 9 43 --- --- --- --- LA16c-306E5.3 0 broad.mit.edu 37 16 3546141 3546141 + RNA DEL A A - rs74546027 TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr16:3546141delA ENST00000574423.2 + 0 111 actccgtctcaaaaaaaaaaa 0.557 4 6 --- --- --- --- KMT2B 9757 broad.mit.edu 37 19 36222827 36222828 + Frame_Shift_Ins INS - - C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr19:36222827_36222828insC ENST00000420124.1 + 27 5456_5457 c.5456_5457insC c.(5455-5460)gaccccfs p.DP1819fs KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000222270.7_Frame_Shift_Ins_p.DP1819fs lysine (K)-specific methyltransferase 2B GGTGGTGAGGACCCCCCACTGG 0.614 12 57 --- --- --- --- TMCC1 23023 broad.mit.edu 37 3 129370576 129370578 + In_Frame_Del DEL CTG CTG - TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr3:129370576_129370578delCTG ENST00000393238.3 - 6 2048_2050 c.1708_1710delCAG c.(1708-1710)cagdel p.Q570del TMCC1_ENST00000426664.2_In_Frame_Del_p.Q456del|TMCC1_ENST00000329333.5_In_Frame_Del_p.Q391del|TMCC1_ENST00000432054.2_In_Frame_Del_p.Q246del NM_001017395.3 NP_001017395.2 O94876 TMCC1_HUMAN transmembrane and coiled-coil domain family 1 570 integral to membrane PLXND1/TMCC1(4) breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1) 25 GCTGCACCACCTGCTGCTGCTGC 0.581 7 132 --- --- --- --- KLF5 688 broad.mit.edu 37 13 73636680 73636683 + Frame_Shift_Del DEL CAAG CAAG - TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr13:73636680_73636683delCAAG ENST00000377687.4 + 2 1479_1482 c.943_946delCAAG c.(943-948)caagcafs p.QA315fs KLF5_ENST00000539231.1_Frame_Shift_Del_p.QA224fs|KLF5_ENST00000477333.1_3'UTR NM_001730.3 NP_001721.2 Q13887 KLF5_HUMAN Kruppel-like factor 5 (intestinal) 315 transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Prostate(6;0.00187)|Breast(118;0.0735) GBM - Glioblastoma multiforme(99;0.0011) TCCAGATAGACAAGCAGAGATGCT 0.495 19 142 --- --- --- --- FBN1 2200 broad.mit.edu 37 15 48826273 48826286 + Splice_Site DEL TTACCTTCACATTT TTACCTTCACATTT - TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr15:48826273_48826286delTTACCTTCACATTT ENST00000316623.5 - 8 1308_1318 c.853_863delAAATGTGAAGGTAA c.(853-864)aaatgtgaaggt>t p.KCEG285fs NM_000138.4 NP_000129 P35555 FBN1_HUMAN fibrillin 1 285 EGF-like 4; calcium-binding. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) ATAAGATTTCTTACCTTCACATTTTTGTGACACT 0.435 11 586 --- --- --- --- HCFC1R1 54985 broad.mit.edu 37 16 3073515 3073517 + In_Frame_Del DEL CTC CTC - TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr16:3073515_3073517delCTC ENST00000248089.3 - 2 414_416 c.110_112delGAG c.(109-114)ggagct>gct p.G37del HCFC1R1_ENST00000572355.1_5'UTR|HCFC1R1_ENST00000396916.1_In_Frame_Del_p.G37del|HCFC1R1_ENST00000574151.1_Intron|HCFC1R1_ENST00000574980.1_In_Frame_Del_p.G37del|HCFC1R1_ENST00000354679.3_Intron NM_017885.2 NP_060355.1 Q9NWW0 HPIP_HUMAN host cell factor C1 regulator 1 (XPO1 dependent) 37 cytoplasm|nucleus breast(1)|large_intestine(1)|upper_aerodigestive_tract(1) 3 ATGGGCACAGCTCCTCGGAGAGG 0.626 9 43 --- --- --- --- KMT2B 9757 broad.mit.edu 37 19 36222827 36222828 + Frame_Shift_Ins INS - - C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-11A-11D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 06070050-15e3-45fb-ba43-ba012fdebaf1 g.chr19:36222827_36222828insC ENST00000420124.1 + 27 5456_5457 c.5456_5457insC c.(5455-5460)gaccccfs p.DP1819fs KMT2B_ENST00000222270.7_Frame_Shift_Ins_p.DP1819fs|KMT2B_ENST00000607650.1_RNA lysine (K)-specific methyltransferase 2B GGTGGTGAGGACCCCCCACTGG 0.614 12 57 --- --- --- ---