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 MYOM2 9172 broad.mit.edu 37 8 2037956 2037956 + Silent SNP G G A rs146528852 TCGA-DU-A6S8-01A-12D-A32B-08 TCGA-DU-A6S8-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c643556f-5d54-4821-b2c1-af7b5ff789d6 e33db528-eb1b-4812-9956-03280bb3bd0c g.chr8:2037956G>A ENST00000262113.4 + 15 1911 c.1770G>A c.(1768-1770)cgG>cgA p.R590R MYOM2_ENST00000523438.1_Silent_p.R15R NM_003970.2 NP_003961.2 P54296 MYOM2_HUMAN myomesin 2 590 Fibronectin type-III 2. muscle contraction myosin filament structural constituent of muscle autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3) 104 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) CAGCAAACCGGCATGGCCTGA 0.572000 3 36 0 0 1 0 0 ST8SIA6 338596 broad.mit.edu 37 10 17362896 17362896 + Missense_Mutation SNP C C T TCGA-DU-A6S8-01A-12D-A32B-08 TCGA-DU-A6S8-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c643556f-5d54-4821-b2c1-af7b5ff789d6 e33db528-eb1b-4812-9956-03280bb3bd0c g.chr10:17362896C>T ENST00000377602.4 - 8 1252 c.1178G>A c.(1177-1179)aGc>aAc p.S393N NM_001004470.1 NP_001004470.1 P61647 SIA8F_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 393 post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1) 37 TTCACATTTGCTAAATTGCAG 0.378000 92 130 0 0 1 0 0 DNM2 1785 broad.mit.edu 37 19 10908075 10908075 + Missense_Mutation SNP G G A TCGA-DU-A6S8-01A-12D-A32B-08 TCGA-DU-A6S8-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c643556f-5d54-4821-b2c1-af7b5ff789d6 e33db528-eb1b-4812-9956-03280bb3bd0c g.chr19:10908075G>A ENST00000314646.5 + 10 1380 c.1216G>A c.(1216-1218)Gac>Aac p.D406N DNM2_ENST00000408974.4_Missense_Mutation_p.D406N|DNM2_ENST00000585892.1_Intron|DNM2_ENST00000355667.6_Intron|DNM2_ENST00000359692.6_Intron|DNM2_ENST00000389253.4_Missense_Mutation_p.D406N P50570 DYN2_HUMAN dynamin 2 406 G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane GTP binding|GTPase activity|microtubule binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 42 Epithelial(33;4.17e-05)|all cancers(31;8.48e-05) CTTCACCCCCGACATGGCCTT 0.547000 """F, N, Splice, Mis, O""" ETP ALL 5 26 0 0 1 0 0 NLRP13 126204 broad.mit.edu 37 19 56423307 56423307 + Missense_Mutation SNP C C T TCGA-DU-A6S8-01A-12D-A32B-08 TCGA-DU-A6S8-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c643556f-5d54-4821-b2c1-af7b5ff789d6 e33db528-eb1b-4812-9956-03280bb3bd0c g.chr19:56423307C>T ENST00000588751.1 - 5 1900 c.1876G>A c.(1876-1878)Gct>Act p.A626T NLRP13_ENST00000342929.3_Missense_Mutation_p.A626T Q86W25 NAL13_HUMAN NLR family, pyrin domain containing 13 626 ATP binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) GCACTTTCAGCCTTACCTAAC 0.403000 13 24 0 0 1 0 0 IRAK1 3654 broad.mit.edu 37 X 153284093 153284093 + Missense_Mutation SNP G G A TCGA-DU-A6S8-01A-12D-A32B-08 TCGA-DU-A6S8-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c643556f-5d54-4821-b2c1-af7b5ff789d6 e33db528-eb1b-4812-9956-03280bb3bd0c g.chrX:153284093G>A ENST00000369980.3 - 5 853 c.686C>T c.(685-687)gCg>gTg p.A229V IRAK1_ENST00000393687.2_Missense_Mutation_p.A229V|IRAK1_ENST00000369974.2_Missense_Mutation_p.A229V|IRAK1_ENST00000429936.2_Missense_Mutation_p.A255V|IRAK1_ENST00000477274.1_5'UTR|IRAK1_ENST00000393682.1_Missense_Mutation_p.A255V NM_001025242.1|NM_001569.3 NP_001020413.1|NP_001560.2 P51617 IRAK1_HUMAN interleukin-1 receptor-associated kinase 1 229 Protein kinase. activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|lipopolysaccharide-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transmembrane receptor protein serine/threonine kinase signaling pathway cytosol|endosome membrane|interleukin-1 receptor complex ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2) 25 all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CCTCATCACCGCCCGGTACAC 0.592000 20 160 0 0 1 0 0 NR0B1 190 broad.mit.edu 37 X 30327411 30327411 + Missense_Mutation SNP G G A TCGA-DU-A6S8-01A-12D-A32B-08 TCGA-DU-A6S8-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c643556f-5d54-4821-b2c1-af7b5ff789d6 e33db528-eb1b-4812-9956-03280bb3bd0c g.chrX:30327411G>A ENST00000378970.4 - 1 304 c.70C>T c.(70-72)Cgc>Tgc p.R24C NR0B1_ENST00000453287.1_Missense_Mutation_p.R24C NM_000475.4 NP_000466.2 P51843 NR0B1_HUMAN nuclear receptor subfamily 0, group B, member 1 24 4 X 67 AA tandem repeats. adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2) 24 Dexamethasone(DB01234)|Tretinoin(DB00755) GGAGCCGCGCGCGTTTGCTTC 0.692000 8 13 0 0 1 0 0 ICOSLG 23308 broad.mit.edu 37 21 45658330 45658330 + Splice_Site SNP C C T TCGA-DU-A6S8-01A-12D-A32B-08 TCGA-DU-A6S8-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c643556f-5d54-4821-b2c1-af7b5ff789d6 e33db528-eb1b-4812-9956-03280bb3bd0c g.chr21:45658330C>T ENST00000407780.3 - 2 183 c.e2+1 ICOSLG_ENST00000400377.3_Splice_Site|ICOSLG_ENST00000344330.4_Splice_Site|ICOSLG_ENST00000400379.3_Splice_Site O75144 ICOSL_HUMAN inducible T-cell co-stimulator ligand B cell activation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction|T cell activation|T cell costimulation receptor binding endometrium(2)|lung(1)|stomach(1)|urinary_tract(1) 5 Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772) CCTGAACTTACCAGCTCGAAG 0.612000 8 14 0 0 1 0 0 TNKS2 80351 broad.mit.edu 37 10 93590720 93590720 + Missense_Mutation SNP T T C TCGA-DU-A6S8-01A-12D-A32B-08 TCGA-DU-A6S8-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c643556f-5d54-4821-b2c1-af7b5ff789d6 e33db528-eb1b-4812-9956-03280bb3bd0c g.chr10:93590720T>C ENST00000371627.4 + 10 1524 c.1145T>C c.(1144-1146)aTa>aCa p.I382T NM_025235.3 NP_079511.1 Q9H2K2 TNKS2_HUMAN tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2 382 positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm NAD+ ADP-ribosyltransferase activity|protein binding biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 48 Colorectal(252;0.162) AGAAAGCAAATATGTGAACTG 0.294000 4 29 0 0 1 0 0 DSG1 1828 broad.mit.edu 37 18 28916444 28916444 + Missense_Mutation SNP A A G TCGA-DU-A6S8-01A-12D-A32B-08 TCGA-DU-A6S8-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c643556f-5d54-4821-b2c1-af7b5ff789d6 e33db528-eb1b-4812-9956-03280bb3bd0c g.chr18:28916444A>G ENST00000257192.4 + 9 1345 c.1133A>G c.(1132-1134)aAt>aGt p.N378S NM_001942.2 NP_001933.2 Q02413 DSG1_HUMAN desmoglein 1 378 Cadherin 3. calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 76 OV - Ovarian serous cystadenocarcinoma(10;0.00559) ACTGTGTTAAATGTAATTGAA 0.363000 12 56 0 0 1 0 0 IGF1 3479 broad.mit.edu 37 12 102813295 102813295 + Missense_Mutation SNP T T C TCGA-DU-A6S8-01A-12D-A32B-08 TCGA-DU-A6S8-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c643556f-5d54-4821-b2c1-af7b5ff789d6 e33db528-eb1b-4812-9956-03280bb3bd0c g.chr12:102813295T>C ENST00000456098.1 - 3 612 c.394A>G c.(394-396)Acc>Gcc p.T132A IGF1_ENST00000337514.6_Missense_Mutation_p.T132A|IGF1_ENST00000424202.2_Missense_Mutation_p.T116A|IGF1_ENST00000307046.8_Missense_Mutation_p.T132A|IGF1_ENST00000392904.1_Missense_Mutation_p.T132A NM_001111283.1 NP_001104753.1 P05019 IGF1_HUMAN insulin-like growth factor 1 (somatomedin C) 132 anti-apoptosis|bone mineralization involved in bone maturation|cellular component movement|DNA replication|glycolate metabolic process|muscle hypertrophy|myoblast differentiation|myoblast proliferation|myotube cell development|negative regulation of smooth muscle cell apoptosis|phosphatidylinositol-mediated signaling|platelet activation|platelet degranulation|positive regulation of activated T cell proliferation|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis|positive regulation of osteoblast differentiation|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of Ras protein signal transduction|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat5 protein|Ras protein signal transduction|regulation of multicellular organism growth|satellite cell maintenance involved in skeletal muscle regeneration platelet alpha granule lumen growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|integrin binding central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1) 11 ACCTTCTGGGTCTTGGGCATG 0.592000 14 21 0 0 1 0 0 KLHL26 55295 broad.mit.edu 37 19 18775153 18775153 + Missense_Mutation SNP C C T TCGA-DU-A6S8-01A-12D-A32B-08 TCGA-DU-A6S8-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c643556f-5d54-4821-b2c1-af7b5ff789d6 e33db528-eb1b-4812-9956-03280bb3bd0c g.chr19:18775153C>T ENST00000300976.4 + 2 256 c.166C>T c.(166-168)Ctc>Ttc p.L56F KLHL26_ENST00000596843.1_3'UTR|KLHL26_ENST00000595182.1_Missense_Mutation_p.L56F|KLHL26_ENST00000599006.1_Missense_Mutation_p.L56F NM_018316.1 NP_060786.1 Q53HC5 KLH26_HUMAN kelch-like family member 26 56 breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 17 CCTGGCCACCCTCCGCGCTCA 0.637000 54 68 0 0 1 0 0 TRIM2 23321 broad.mit.edu 37 4 154216540 154216540 + Missense_Mutation SNP G G A TCGA-DU-A6S8-01A-12D-A32B-08 TCGA-DU-A6S8-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c643556f-5d54-4821-b2c1-af7b5ff789d6 e33db528-eb1b-4812-9956-03280bb3bd0c g.chr4:154216540G>A ENST00000338700.5 + 6 927 c.862G>A c.(862-864)Gcc>Acc p.A288T TRIM2_ENST00000494872.1_3'UTR|TRIM2_ENST00000437508.2_Missense_Mutation_p.A261T NM_015271.3 NP_056086.2 Q9C040 TRIM2_HUMAN tripartite motif containing 2 261 cytoplasm zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1) 19 all_hematologic(180;0.093) Medulloblastoma(177;0.00225) GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703) CACAGCGCAGGCCCTCAACCA 0.617000 10 2 0 0 1 0 0 LANCL1 10314 broad.mit.edu 37 2 211302538 211302538 + Missense_Mutation SNP T T C TCGA-DU-A6S8-01A-12D-A32B-08 TCGA-DU-A6S8-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c643556f-5d54-4821-b2c1-af7b5ff789d6 e33db528-eb1b-4812-9956-03280bb3bd0c g.chr2:211302538T>C ENST00000443314.1 - 6 1091 c.749A>G c.(748-750)tAc>tGc p.Y250C LANCL1_ENST00000441020.3_Missense_Mutation_p.Y250C|AC007970.1_ENST00000433296.1_RNA|AC007970.1_ENST00000420418.1_RNA|LANCL1_ENST00000431941.2_Missense_Mutation_p.Y250C|LANCL1_ENST00000450366.2_Missense_Mutation_p.Y250C|LANCL1_ENST00000233714.4_Missense_Mutation_p.Y250C O43813 LANC1_HUMAN LanC lantibiotic synthetase component C-like 1 (bacterial) 250 cytoplasm|integral to plasma membrane|microtubule cytoskeleton|nucleus catalytic activity|G-protein coupled receptor activity|glutathione binding|low-density lipoprotein particle receptor binding|SH3 domain binding|zinc ion binding breast(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1) 12 Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569) CTGGCAGACGTAGTCTACACT 0.463000 5 56 0 0 1 0 0 PDE3A 5139 broad.mit.edu 37 12 20783011 20783011 + Silent SNP T T C TCGA-DU-A6S8-01A-12D-A32B-08 TCGA-DU-A6S8-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c643556f-5d54-4821-b2c1-af7b5ff789d6 e33db528-eb1b-4812-9956-03280bb3bd0c g.chr12:20783011T>C ENST00000359062.3 + 6 1750 c.1710T>C c.(1708-1710)agT>agC p.S570S PDE3A_ENST00000544307.1_3'UTR NM_000921.4|NM_001244683.1 NP_000912.3|NP_001231612.1 Q14432 PDE3A_HUMAN phosphodiesterase 3A, cGMP-inhibited 570 lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 58 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) ACACTCAGAGTGCCCCAGACC 0.423000 39 139 0 0 1 0 0 ASPM 259266 broad.mit.edu 37 1 197070715 197070715 + Missense_Mutation SNP C C T TCGA-DU-A6S8-01A-12D-A32B-08 TCGA-DU-A6S8-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c643556f-5d54-4821-b2c1-af7b5ff789d6 e33db528-eb1b-4812-9956-03280bb3bd0c g.chr1:197070715C>T ENST00000367409.4 - 18 7922 c.7666G>A c.(7666-7668)Gct>Act p.A2556T ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 2556 IQ 27. mitosis cytoplasm|nucleus calmodulin binding breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 ACGATAGAAGCTTTGTGTTTT 0.348000 20 53 0 0 1 0 0 SLC35C2 51006 broad.mit.edu 37 20 44979079 44979079 + Missense_Mutation SNP C C G TCGA-DU-A6S8-01A-12D-A32B-08 TCGA-DU-A6S8-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c643556f-5d54-4821-b2c1-af7b5ff789d6 e33db528-eb1b-4812-9956-03280bb3bd0c g.chr20:44979079C>G ENST00000372227.1 - 10 1592 c.1052G>C c.(1051-1053)gGt>gCt p.G351A SLC35C2_ENST00000243896.2_Missense_Mutation_p.G351A|SLC35C2_ENST00000372230.5_Missense_Mutation_p.G351A|SLC35C2_ENST00000493599.1_5'UTR|SLC35C2_ENST00000372229.1_Missense_Mutation_p.G218A|SLC35C2_ENST00000317734.8_Missense_Mutation_p.G330A|SLC35C2_ENST00000543605.1_Missense_Mutation_p.G380A Q9NQQ7 S35C2_HUMAN solute carrier family 35 (GDP-fucose transporter), member C2 351 transport integral to membrane cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1) 16 Myeloproliferative disorder(115;0.0122) CTCATTGTCACCTTCCTCCCG 0.642000 18 44 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90161926 90161926 + RNA SNP T T C rs8061283 by1000genomes TCGA-DU-A6S8-01A-12D-A32B-08 TCGA-DU-A6S8-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c643556f-5d54-4821-b2c1-af7b5ff789d6 e33db528-eb1b-4812-9956-03280bb3bd0c g.chr16:90161926T>C ENST00000564451.1 + 0 1279 TUBB8P7_ENST00000567960.1_RNA p.I221T(3) CCCACACCCATCTATGGTGAC 0.527000 3 28 0 0 1 0 0 POTEC 388468 broad.mit.edu 37 18 14542921 14542921 + Silent SNP G G A TCGA-DU-A6S8-01A-12D-A32B-08 TCGA-DU-A6S8-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c643556f-5d54-4821-b2c1-af7b5ff789d6 e33db528-eb1b-4812-9956-03280bb3bd0c g.chr18:14542921G>A ENST00000358970.5 - 1 224 c.225C>T c.(223-225)agC>agT p.S75S POTEC_ENST00000389891.4_5'UTR NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 75 p.S75S(1)|p.S75R(1) NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 TGCTCGTGCCGCTCCCCCTGC 0.567000 28 222 0 0 1 0 0 DCAF8L1 139425 broad.mit.edu 37 X 27998106 27998106 + Missense_Mutation SNP C C A rs138650117 TCGA-DU-A6S8-01A-12D-A32B-08 TCGA-DU-A6S8-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c643556f-5d54-4821-b2c1-af7b5ff789d6 e33db528-eb1b-4812-9956-03280bb3bd0c g.chrX:27998106C>A ENST00000441525.1 - 1 1460 c.1346G>T c.(1345-1347)cGg>cTg p.R449L NM_001017930.1 NP_001017930.1 A6NGE4 DC8L1_HUMAN DDB1 and CUL4 associated factor 8-like 1 449 p.R449L(1) NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 56 AAACTCACTCCGGGGGCCATA 0.463000 3 33 0.00024832 0.000258962 1 1 0 SLC17A9 63910 broad.mit.edu 37 20 61594021 61594021 + Silent SNP C C T TCGA-DU-A6S8-01A-12D-A32B-08 TCGA-DU-A6S8-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c643556f-5d54-4821-b2c1-af7b5ff789d6 e33db528-eb1b-4812-9956-03280bb3bd0c g.chr20:61594021C>T ENST00000370349.3 + 6 729 c.525C>T c.(523-525)taC>taT p.Y175Y SLC17A9_ENST00000370351.4_Silent_p.Y181Y|SLC17A9_ENST00000488738.1_3'UTR Q9BYT1 S17A9_HUMAN solute carrier family 17 (vesicular nucleotide transporter), member 9 181 exocytosis|transmembrane transport integral to membrane transporter activity endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 23 TGGAATGGTACGGCTGGCAGA 0.637000 10 78 0 0 1 0 0 NXT2 55916 broad.mit.edu 37 X 108780167 108780167 + Splice_Site SNP C C T TCGA-DU-A6S8-01A-12D-A32B-08 TCGA-DU-A6S8-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c643556f-5d54-4821-b2c1-af7b5ff789d6 e33db528-eb1b-4812-9956-03280bb3bd0c g.chrX:108780167C>T ENST00000218004.1 + 2 199 c.95_splice c.e2-1 p.P33_splice NXT2_ENST00000372106.1_5'UTR|NXT2_ENST00000372107.1_5'UTR NM_018698.4 NP_061168.2 Q9NPJ8 NXT2_HUMAN nuclear transport factor 2-like export factor 2 0 NTF2. mRNA transport|protein transport cytoplasm|nucleus endometrium(3)|large_intestine(1)|lung(1)|ovary(1) 6 ATTCCGCAGCCCTGCGGACCG 0.572000 12 12 0 0 1 0 0 HIST1H2BC 8347 broad.mit.edu 37 6 26124122 26124122 + Missense_Mutation SNP G G A TCGA-DU-A6S8-01A-12D-A32B-08 TCGA-DU-A6S8-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c643556f-5d54-4821-b2c1-af7b5ff789d6 e33db528-eb1b-4812-9956-03280bb3bd0c g.chr6:26124122G>A ENST00000314332.5 - 1 16 c.11C>T c.(10-12)cCa>cTa p.P4L HIST1H2BC_ENST00000396984.1_Missense_Mutation_p.P4L P62807 H2B1C_HUMAN histone cluster 1, H2bc 4 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(1) 16 AGACTTGGCTGGCTCAGGCAT 0.507000 8 102 0 0 1 0 0 PKP3 11187 broad.mit.edu 37 11 399104 399104 + Missense_Mutation SNP A A G TCGA-DU-A6S8-01A-12D-A32B-08 TCGA-DU-A6S8-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c643556f-5d54-4821-b2c1-af7b5ff789d6 e33db528-eb1b-4812-9956-03280bb3bd0c g.chr11:399104A>G ENST00000331563.2 + 5 1257 c.1181A>G c.(1180-1182)gAc>gGc p.D394G NM_007183.2 NP_009114.1 Q9Y446 PKP3_HUMAN plakophilin 3 394 cell adhesion desmosome|nucleus binding breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703) GACAACGCTGACAACAAGCTG 0.597000 6 36 0 0 1 0 0 ACTRT2 140625 broad.mit.edu 37 1 2938806 2938806 + Missense_Mutation SNP G G A TCGA-DU-A6S8-01A-12D-A32B-08 TCGA-DU-A6S8-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c643556f-5d54-4821-b2c1-af7b5ff789d6 e33db528-eb1b-4812-9956-03280bb3bd0c g.chr1:2938806G>A ENST00000378404.2 + 1 761 c.556G>A c.(556-558)Ggc>Agc p.G186S NM_080431.4 NP_536356.3 Q8TDY3 ACTT2_HUMAN actin-related protein T2 186 cytoplasm|cytoskeleton breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 26 all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909) all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125) CCACGTGGCGGGCAGGGACAT 0.637000 6 20 0 0 1 0 0 CKAP5 9793 broad.mit.edu 37 11 46782334 46782334 + Splice_Site SNP G G A TCGA-DU-A6S8-01A-12D-A32B-08 TCGA-DU-A6S8-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c643556f-5d54-4821-b2c1-af7b5ff789d6 e33db528-eb1b-4812-9956-03280bb3bd0c g.chr11:46782334G>A ENST00000529230.1 - 33 4268 c.4221_splice c.e33-1 p.L1408_splice CKAP5_ENST00000354558.3_Splice_Site_p.L1408_splice|CKAP5_ENST00000415402.1_Splice_Site_p.L1408_splice|CKAP5_ENST00000312055.5_Splice_Site_p.L1408_splice Q14008 CKAP5_HUMAN cytoskeleton associated protein 5 1408 cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization centrosome|cytosol protein binding breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 43 TTTTCAGAAAGCTGTAAAGAG 0.388000 7 43 0 0 1 0 0 A1CF 29974 broad.mit.edu 37 10 52573649 52573649 + Silent SNP A A G TCGA-DU-A6S8-01A-12D-A32B-08 TCGA-DU-A6S8-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c643556f-5d54-4821-b2c1-af7b5ff789d6 e33db528-eb1b-4812-9956-03280bb3bd0c g.chr10:52573649A>G ENST00000395489.2 - 12 1690 c.1294T>C c.(1294-1296)Tta>Cta p.L432L A1CF_ENST00000395495.1_Silent_p.L384L|A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000282641.2_Silent_p.L439L|A1CF_ENST00000373993.1_Silent_p.L439L|A1CF_ENST00000374001.1_Silent_p.L431L|A1CF_ENST00000373997.3_Silent_p.L431L|A1CF_ENST00000373995.3_Silent_p.L439L|ASAH2B_ENST00000483649.1_Intron NM_001198819.1 NP_001185748.1 Q9NQ94 A1CF_HUMAN APOBEC1 complementation factor 439 cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3) 29 TGGGGTTTTAATGTGACAGGA 0.418000 17 117 0 0 1 0 0 CIC 23152 broad.mit.edu 37 19 42791818 42791818 + Missense_Mutation SNP G G A TCGA-DU-A6S8-01A-12D-A32B-08 TCGA-DU-A6S8-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c643556f-5d54-4821-b2c1-af7b5ff789d6 e33db528-eb1b-4812-9956-03280bb3bd0c g.chr19:42791818G>A ENST00000572681.2 + 6 3499 c.3431G>A c.(3430-3432)gGc>gAc p.G1144D CIC_ENST00000160740.3_Missense_Mutation_p.G235D|CIC_ENST00000575354.2_Missense_Mutation_p.G235D Q96RK0 CIC_HUMAN capicua transcriptional repressor 235 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) AAGATCCTGGGCGAGTGGTGG 0.612000 """Mis, F, S""" oligodendroglioma 24 9 0 0 1 0 0 IFIT5 24138 broad.mit.edu 37 10 91178247 91178247 + Missense_Mutation SNP A A G TCGA-DU-A6S8-01A-12D-A32B-08 TCGA-DU-A6S8-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c643556f-5d54-4821-b2c1-af7b5ff789d6 e33db528-eb1b-4812-9956-03280bb3bd0c g.chr10:91178247A>G ENST00000371795.4 + 2 1504 c.1291A>G c.(1291-1293)Aat>Gat p.N431D IFIT5_ENST00000416601.1_Missense_Mutation_p.N383D NM_012420.2 NP_036552.1 Q13325 IFIT5_HUMAN interferon-induced protein with tetratricopeptide repeats 5 431 binding endometrium(1)|large_intestine(4)|lung(4) 9 ACTTTGTCACAATGCTTTAGA 0.423000 21 72 0 0 1 0 0 CXorf66 347487 broad.mit.edu 37 X 139038428 139038428 + Missense_Mutation SNP T T G TCGA-DU-A6S8-01A-12D-A32B-08 TCGA-DU-A6S8-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c643556f-5d54-4821-b2c1-af7b5ff789d6 e33db528-eb1b-4812-9956-03280bb3bd0c g.chrX:139038428T>G ENST00000370540.1 - 3 736 c.713A>C c.(712-714)aAg>aCg p.K238T NM_001013403.2 NP_001013421.1 Q5JRM2 CX066_HUMAN chromosome X open reading frame 66 238 integral to membrane breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1) 26 TTTGGGAGGCTTAGCCAATTC 0.438000 132 156 0 0 1 0 0 ABCC11 85320 broad.mit.edu 37 16 48221160 48221160 + Missense_Mutation SNP A A G TCGA-DU-A6S8-01A-12D-A32B-08 TCGA-DU-A6S8-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c643556f-5d54-4821-b2c1-af7b5ff789d6 e33db528-eb1b-4812-9956-03280bb3bd0c g.chr16:48221160A>G ENST00000394747.1 - 20 3234 c.2885T>C c.(2884-2886)aTc>aCc p.I962T ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000353782.5_Missense_Mutation_p.I962T|ABCC11_ENST00000356608.2_Missense_Mutation_p.I962T|ABCC11_ENST00000537808.1_3'UTR|ABCC11_ENST00000394748.1_Missense_Mutation_p.I962T NM_033151.3 NP_149163.2 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 11 962 ABC transmembrane type-1 2. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2) 83 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) CATTAACAGGATATATGGAGA 0.468000 29 24 0 0 1 0 0 CEP85L 387119 broad.mit.edu 37 6 118953718 118953718 + Missense_Mutation SNP T T C TCGA-DU-A6S8-01A-12D-A32B-08 TCGA-DU-A6S8-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c643556f-5d54-4821-b2c1-af7b5ff789d6 e33db528-eb1b-4812-9956-03280bb3bd0c g.chr6:118953718T>C ENST00000368491.3 - 2 751 c.130A>G c.(130-132)Act>Gct p.T44A CEP85L_ENST00000360290.3_5'UTR|CEP85L_ENST00000419517.2_Missense_Mutation_p.T44A|CEP85L_ENST00000392500.3_Missense_Mutation_p.T47A|CEP85L_ENST00000368488.5_Missense_Mutation_p.T47A NM_001042475.2 NP_001035940.1 Q5SZL2 CF204_HUMAN centrosomal protein 85kDa-like 44 centrosome GATGGAACAGTTGTGGCCTGC 0.423000 39 45 0 0 1 0 0 SEMG2 6407 broad.mit.edu 37 20 43851147 43851147 + Missense_Mutation SNP C C T rs140069155 TCGA-DU-A6S8-01A-12D-A32B-08 TCGA-DU-A6S8-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c643556f-5d54-4821-b2c1-af7b5ff789d6 e33db528-eb1b-4812-9956-03280bb3bd0c g.chr20:43851147C>T ENST00000372769.3 + 2 964 c.874C>T c.(874-876)Cgt>Tgt p.R292C NM_003008.2 NP_002999.1 Q02383 SEMG2_HUMAN semenogelin II 292 4 X 60 AA tandem repeats, type I.|Repeat-rich region. sexual reproduction extracellular space|stored secretory granule structural molecule activity p.R292S(1) autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 Myeloproliferative disorder(115;0.0122) CCCGTCTTCACGTACAGAAGA 0.393000 41 67 0 0 1 0 0 CHD8 57680 broad.mit.edu 37 14 21897261 21897261 + Silent SNP T T C TCGA-DU-A6S8-01A-12D-A32B-08 TCGA-DU-A6S8-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c643556f-5d54-4821-b2c1-af7b5ff789d6 e33db528-eb1b-4812-9956-03280bb3bd0c g.chr14:21897261T>C ENST00000399982.2 - 2 1141 c.1077A>G c.(1075-1077)tcA>tcG p.S359S CHD8_ENST00000430710.3_Silent_p.S80S|CHD8_ENST00000557364.1_Silent_p.S359S|CHD8_ENST00000555962.1_Intron NM_001170629.1 NP_001164100.1 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 359 Gln-rich. ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 85 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) GTGGCTGCGATGATGGTGGTT 0.557000 8 75 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-DU-A6S8-01A-12D-A32B-08 TCGA-DU-A6S8-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c643556f-5d54-4821-b2c1-af7b5ff789d6 e33db528-eb1b-4812-9956-03280bb3bd0c g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 26 32 0 0 1 0 0 OPN1LW 5956 broad.mit.edu 37 X 153418564 153418564 + Silent SNP C C T TCGA-DU-A6S8-01A-12D-A32B-08 TCGA-DU-A6S8-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c643556f-5d54-4821-b2c1-af7b5ff789d6 e33db528-eb1b-4812-9956-03280bb3bd0c g.chrX:153418564C>T ENST00000369951.4 + 3 621 c.561C>T c.(559-561)ccC>ccT p.P187P OPN1LW_ENST00000463296.1_3'UTR NM_020061.4 NP_064445.1 P04000 OPSR_HUMAN opsin 1 (cone pigments), long-wave-sensitive 187 phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1) 15 all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CAGCCCCGCCCATCTTTGGTT 0.567000 9 35 0 0 1 0 0 ACTRT1 139741 broad.mit.edu 37 X 127185637 127185637 + Missense_Mutation SNP C C T TCGA-DU-A6S8-01A-12D-A32B-08 TCGA-DU-A6S8-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c643556f-5d54-4821-b2c1-af7b5ff789d6 e33db528-eb1b-4812-9956-03280bb3bd0c g.chrX:127185637C>T ENST00000371124.3 - 1 745 c.549G>A c.(547-549)atG>atA p.M183I NM_138289.3 NP_612146.1 Q8TDG2 ACTT1_HUMAN actin-related protein T1 183 cytoplasm|cytoskeleton breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3) 34 CCCTCCCTGCCATACAGAGTT 0.542000 40 68 0 0 1 0 0 C11orf16 56673 broad.mit.edu 37 11 8947615 8947615 + Missense_Mutation SNP C C T TCGA-DU-A6S8-01A-12D-A32B-08 TCGA-DU-A6S8-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c643556f-5d54-4821-b2c1-af7b5ff789d6 e33db528-eb1b-4812-9956-03280bb3bd0c g.chr11:8947615C>T ENST00000326053.5 - 5 705 c.599G>A c.(598-600)gGc>gAc p.G200D C11orf16_ENST00000525780.1_Missense_Mutation_p.G200D NM_020643.2 NP_065694.2 Q9NQ32 CK016_HUMAN chromosome 11 open reading frame 16 200 central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1) 22 Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234) AGCAGCTTTGCCATTCCAGAA 0.428000 4 111 0 0 1 0 0 C7orf10 79783 broad.mit.edu 37 7 40535964 40535964 + Missense_Mutation SNP G G C TCGA-DU-A6S8-01A-12D-A32B-08 TCGA-DU-A6S8-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c643556f-5d54-4821-b2c1-af7b5ff789d6 e33db528-eb1b-4812-9956-03280bb3bd0c g.chr7:40535964G>C ENST00000309930.5 + 12 1113 c.1089G>C c.(1087-1089)aaG>aaC p.K363N C7orf10_ENST00000335693.4_Missense_Mutation_p.K363N|C7orf10_ENST00000401647.2_Missense_Mutation_p.K315N NM_001193311.1|NM_024728.2 NP_001180240.1|NP_079004.1 Q9HAC7 CG010_HUMAN chromosome 7 open reading frame 10 363 transferase activity endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2) 18 ACAACATGAAGAATGTATTTG 0.403000 8 7 0 0 1 0 0 ACSBG1 23205 broad.mit.edu 37 15 78474344 78474344 + Silent SNP G G A TCGA-DU-A6S8-01A-12D-A32B-08 TCGA-DU-A6S8-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c643556f-5d54-4821-b2c1-af7b5ff789d6 e33db528-eb1b-4812-9956-03280bb3bd0c g.chr15:78474344G>A ENST00000258873.4 - 8 1243 c.1038C>T c.(1036-1038)gcC>gcT p.A346A ACSBG1_ENST00000541759.1_Silent_p.A104A|ACSBG1_ENST00000560817.1_Silent_p.A104A NM_001199377.1|NM_015162.4 NP_001186306.1|NP_055977.3 Q96GR2 ACBG1_HUMAN acyl-CoA synthetase bubblegum family member 1 346 long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 37 AGCAAACCTGGGCCCCCCACT 0.627000 19 26 0 0 1 0 0 CYLC1 1538 broad.mit.edu 37 X 83128413 83128413 + Missense_Mutation SNP C C T TCGA-DU-A6S8-01A-12D-A32B-08 TCGA-DU-A6S8-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c643556f-5d54-4821-b2c1-af7b5ff789d6 e33db528-eb1b-4812-9956-03280bb3bd0c g.chrX:83128413C>T ENST00000329312.4 + 4 734 c.697C>T c.(697-699)Ccc>Tcc p.P233S NM_021118.1 NP_066941.1 P35663 CYLC1_HUMAN cylicin, basic protein of sperm head cytoskeleton 1 233 cell differentiation|multicellular organismal development|spermatogenesis acrosomal matrix|cytoskeletal calyx structural molecule activity NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 58 TAGTAATGATCCCATATCAGA 0.328000 18 23 0 0 1 0 0 GK2 2712 broad.mit.edu 37 4 80327935 80327935 + Missense_Mutation SNP G G T TCGA-DU-A6S8-01A-12D-A32B-08 TCGA-DU-A6S8-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c643556f-5d54-4821-b2c1-af7b5ff789d6 e33db528-eb1b-4812-9956-03280bb3bd0c g.chr4:80327935G>T ENST00000358842.3 - 1 1437 c.1420C>A c.(1420-1422)Ctt>Att p.L474I NM_033214.2 NP_149991.2 Q14410 GLPK2_HUMAN glycerol kinase 2 474 glycerol-3-phosphate metabolic process mitochondrial outer membrane ATP binding|glycerol kinase activity autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 39 TGGGGTTCAAGGCTCCAAACG 0.478000 3 55 0.004672 0.00480361 1 1 0 TUBB8P7 0 broad.mit.edu 37 16 90161902 90161902 + RNA SNP A A G rs6500471 by1000genomes TCGA-DU-A6S8-01A-12D-A32B-08 TCGA-DU-A6S8-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c643556f-5d54-4821-b2c1-af7b5ff789d6 e33db528-eb1b-4812-9956-03280bb3bd0c g.chr16:90161902A>G ENST00000564451.1 + 0 1255 TUBB8P7_ENST00000567960.1_RNA p.K213R(8) ATATGTTCCAAGACCCTAAAA 0.537000 3 40 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367767 145367767 + Missense_Mutation SNP G G A rs77484671 TCGA-DU-A6S8-01A-12D-A32B-08 TCGA-DU-A6S8-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c643556f-5d54-4821-b2c1-af7b5ff789d6 e33db528-eb1b-4812-9956-03280bb3bd0c g.chr1:145367767G>A ENST00000342960.5 + 83 10398 c.10363G>A c.(10363-10365)Gaa>Aaa p.E3455K NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3455 p.E3455K(5) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) atcaaagaaggaaagaagaag 0.423000 6 35 0 0 1 0 0 ZNF99 7652 broad.mit.edu 37 19 22941745 22941745 + Silent SNP A A G TCGA-DU-A6S8-01A-12D-A32B-08 TCGA-DU-A6S8-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c643556f-5d54-4821-b2c1-af7b5ff789d6 e33db528-eb1b-4812-9956-03280bb3bd0c g.chr19:22941745A>G ENST00000397104.3 - 5 692 c.693T>C c.(691-693)ttT>ttC p.F231F ZNF99_ENST00000596209.1_Silent_p.F322F zinc finger protein 99 NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) AGAAATGGTTAAAAGCTTTGC 0.393000 39 54 0 0 1 0 0 NUFIP2 57532 broad.mit.edu 37 17 27614074 27614074 + Missense_Mutation SNP T T C TCGA-DU-A6S8-01A-12D-A32B-08 TCGA-DU-A6S8-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c643556f-5d54-4821-b2c1-af7b5ff789d6 e33db528-eb1b-4812-9956-03280bb3bd0c g.chr17:27614074T>C ENST00000225388.4 - 2 996 c.938A>G c.(937-939)aAa>aGa p.K313R NUFIP2_ENST00000579665.1_Intron NM_020772.2 NP_065823.1 Q7Z417 NUFP2_HUMAN nuclear fragile X mental retardation protein interacting protein 2 313 nucleus|polysomal ribosome protein binding|RNA binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1) 24 BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551) ATCAAACTTTTTGCTGCTCAC 0.488000 10 113 0 0 1 0 0 NARFL 64428 broad.mit.edu 37 16 787302 787302 + Missense_Mutation SNP C C T TCGA-DU-A6S8-01A-12D-A32B-08 TCGA-DU-A6S8-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c643556f-5d54-4821-b2c1-af7b5ff789d6 e33db528-eb1b-4812-9956-03280bb3bd0c g.chr16:787302C>T ENST00000251588.2 - 3 206 c.190G>A c.(190-192)Gcc>Acc p.A64T NARFL_ENST00000540986.1_5'UTR|NARFL_ENST00000568545.1_5'UTR|NARFL_ENST00000301694.5_Missense_Mutation_p.A64T NM_022493.1 NP_071938.1 Q9H6Q4 NARFL_HUMAN nuclear prelamin A recognition factor-like 64 iron-sulfur cluster assembly|oxygen homeostasis|regulation of transcription, DNA-dependent|response to hypoxia 4 iron, 4 sulfur cluster binding|metal ion binding autonomic_ganglia(1)|large_intestine(1)|lung(7) 9 Hepatocellular(780;0.0218) GAGACCTTGGCCTTCTCCAGC 0.627000 31 50 0 0 1 0 0 KMO 8564 broad.mit.edu 37 1 241731922 241731922 + Missense_Mutation SNP C C T TCGA-DU-A6S8-01A-12D-A32B-08 TCGA-DU-A6S8-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c643556f-5d54-4821-b2c1-af7b5ff789d6 e33db528-eb1b-4812-9956-03280bb3bd0c g.chr1:241731922C>T ENST00000366559.4 + 10 1243 c.932C>T c.(931-933)cCg>cTg p.P311L KMO_ENST00000366558.3_Missense_Mutation_p.P311L|KMO_ENST00000366557.4_Missense_Mutation_p.P311L NM_003679.4 NP_003670.2 O15229 KMO_HUMAN kynurenine 3-monooxygenase (kynurenine 3-hydroxylase) 311 pyridine nucleotide biosynthetic process|response to salt stress cytosol|integral to membrane|mitochondrial outer membrane electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2) 33 Ovarian(103;0.103)|all_lung(81;0.23) OV - Ovarian serous cystadenocarcinoma(106;0.0176) GCTATAGTGCCGTTTTTTGGG 0.433000 28 31 0 0 1 0 0 ATG2B 55102 broad.mit.edu 37 14 96795934 96795934 + Nonsense_Mutation SNP T T A TCGA-DU-A6S8-01A-12D-A32B-08 TCGA-DU-A6S8-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c643556f-5d54-4821-b2c1-af7b5ff789d6 e33db528-eb1b-4812-9956-03280bb3bd0c g.chr14:96795934T>A ENST00000359933.4 - 12 2661 c.1768A>T c.(1768-1770)Aga>Tga p.R590* NM_018036.5 NP_060506.5 Q96BY7 ATG2B_HUMAN autophagy related 2B 590 breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7) 64 all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155) Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244) GATCTTTGTCTTTGTTCATAG 0.323000 3 66 0 0 1 0 0 PKDREJ 10343 broad.mit.edu 37 22 46657680 46657680 + Missense_Mutation SNP C C T TCGA-DU-A6S8-01A-12D-A32B-08 TCGA-DU-A6S8-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c643556f-5d54-4821-b2c1-af7b5ff789d6 e33db528-eb1b-4812-9956-03280bb3bd0c g.chr22:46657680C>T ENST00000253255.5 - 1 1539 c.1540G>A c.(1540-1542)Gga>Aga p.G514R NM_006071.1 NP_006062.1 Q9NTG1 PKDRE_HUMAN polycystin (PKD) family receptor for egg jelly 514 REJ. acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 73 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) CCATTCCTTCCTGTTACAGTT 0.388000 26 289 0 0 1 0 0 GPER 0 broad.mit.edu 37 7 1131728 1131728 + Silent SNP C C A TCGA-DU-A6S8-01A-12D-A32B-08 TCGA-DU-A6S8-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c643556f-5d54-4821-b2c1-af7b5ff789d6 e33db528-eb1b-4812-9956-03280bb3bd0c g.chr7:1131728C>A ENST00000397092.1 + 3 1248 c.364C>A c.(364-366)Cgg>Agg p.R122R GPER_ENST00000397088.3_Silent_p.R122R|GPER_ENST00000297469.3_Silent_p.R122R|C7orf50_ENST00000357429.6_Intron|C7orf50_ENST00000397100.2_Intron|GPER_ENST00000401670.1_Silent_p.R122R|C7orf50_ENST00000488073.1_Intron|C7orf50_ENST00000397098.3_Intron NM_001039966.1 NP_001035055.1 Q99527 GPER_HUMAN 122 endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane G-protein coupled receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1) 13 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;2.32e-16) CCTGCACGAGCGGTACTACGA 0.577000 3 69 0.115264 0.115264 1 1 0 ADRA2A 150 broad.mit.edu 37 10 112839099 112839099 + Missense_Mutation SNP C C T TCGA-DU-A6S8-01A-12D-A32B-08 TCGA-DU-A6S8-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c643556f-5d54-4821-b2c1-af7b5ff789d6 e33db528-eb1b-4812-9956-03280bb3bd0c g.chr10:112839099C>T ENST00000280155.2 + 1 2310 c.1345C>T c.(1345-1347)Cgc>Tgc p.R449C NM_000681.3 NP_000672.3 P08913 ADA2A_HUMAN adrenoceptor alpha 2A 434 actin cytoskeleton organization|activation of MAPK activity by adrenergic receptor signaling pathway|activation of phospholipase C activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cellular component movement|cellular response to hormone stimulus|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|glucose homeostasis|inhibition of adenylate cyclase activity by adrenergic receptor signaling pathway|intestinal absorption|negative regulation of adrenergic receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of epinephrine secretion|negative regulation of insulin secretion involved in cellular response to glucose stimulus|negative regulation of lipid catabolic process|negative regulation of norepinephrine secretion|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cytokine production|positive regulation of membrane protein ectodomain proteolysis|positive regulation of potassium ion transport|positive regulation of wound healing|Rho protein signal transduction basolateral plasma membrane|cytoplasm|integral to plasma membrane|receptor complex alpha-1B adrenergic receptor binding|alpha-2C adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|heterotrimeric G-protein binding|norepinephrine binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|thioesterase binding breast(1)|cervix(3)|endometrium(6)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Breast(234;0.0735)|Lung NSC(174;0.238) Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118) Amitriptyline(DB00321)|Amphetamine(DB00182)|Apraclonidine(DB00964)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Clonidine(DB00575)|Debrisoquin(DB04840)|Dexmedetomidine(DB00633)|Dipivefrin(DB00449)|Epinastine(DB00751)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Lofexidine(DB04948)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Oxymetazoline(DB00935)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Tizanidine(DB00697)|Trazodone(DB00656)|Yohimbine(DB01392) CCACGATTTCCGCCGCGCCTT 0.592000 19 88 0 0 1 0 0 RTN4RL1 146760 broad.mit.edu 37 17 1840215 1840215 + Missense_Mutation SNP A A G TCGA-DU-A6S8-01A-12D-A32B-08 TCGA-DU-A6S8-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c643556f-5d54-4821-b2c1-af7b5ff789d6 e33db528-eb1b-4812-9956-03280bb3bd0c g.chr17:1840215A>G ENST00000331238.5 - 2 919 c.901T>C c.(901-903)Ttc>Ctc p.F301L NM_178568.2 NP_848663.1 Q86UN2 R4RL1_HUMAN reticulon 4 receptor-like 1 301 LRRCT. axon regeneration anchored to plasma membrane receptor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1) 11 CAGTTCCGGAAGTCCTCGGCC 0.682000 5 11 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522772 95522772 + RNA SNP T T C TCGA-DU-A6S8-01A-12D-A32B-08 TCGA-DU-A6S8-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c643556f-5d54-4821-b2c1-af7b5ff789d6 e33db528-eb1b-4812-9956-03280bb3bd0c g.chr2:95522772T>C ENST00000432432.2 - 0 255 NR_040113.1 p.E49G(1) GCGCTCCACCTCCGCGGCGTC 0.682000 4 49 0 0 1 0 0 NRSN2 80023 broad.mit.edu 37 20 333951 333951 + Missense_Mutation SNP G G A TCGA-DU-A6S8-01A-12D-A32B-08 TCGA-DU-A6S8-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c643556f-5d54-4821-b2c1-af7b5ff789d6 e33db528-eb1b-4812-9956-03280bb3bd0c g.chr20:333951G>A ENST00000382291.3 + 4 527 c.287G>A c.(286-288)gGt>gAt p.G96D NRSN2_ENST00000382285.2_Missense_Mutation_p.G96D|NRSN2_ENST00000492242.1_3'UTR NM_024958.2 NP_079234.1 Q9GZP1 NRSN2_HUMAN neurensin 2 96 integral to membrane|plasma membrane|transport vesicle endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1) 8 all_cancers(10;0.0834) ATCGGTGAGGGTGAGTTCCTG 0.647000 4 69 0 0 1 0 0 TBR1 10716 broad.mit.edu 37 2 162273034 162273034 + Missense_Mutation SNP C C G TCGA-DU-A6S8-01A-12D-A32B-08 TCGA-DU-A6S8-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c643556f-5d54-4821-b2c1-af7b5ff789d6 e33db528-eb1b-4812-9956-03280bb3bd0c g.chr2:162273034C>G ENST00000389554.3 + 1 430 c.113C>G c.(112-114)cCc>cGc p.P38R NM_006593.2 NP_006584.1 Q16650 TBR1_HUMAN T-box, brain, 1 38 nucleus DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3) 30 CACGATCATCCCATTATCTCG 0.463000 26 40 0 0 1 0 0 STK36 27148 broad.mit.edu 37 2 219557982 219557982 + Missense_Mutation SNP A A G TCGA-DU-A6S8-01A-12D-A32B-08 TCGA-DU-A6S8-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c643556f-5d54-4821-b2c1-af7b5ff789d6 e33db528-eb1b-4812-9956-03280bb3bd0c g.chr2:219557982A>G ENST00000295709.3 + 17 2342 c.2063A>G c.(2062-2064)aAt>aGt p.N688S STK36_ENST00000392105.3_Missense_Mutation_p.N688S|STK36_ENST00000392106.2_Missense_Mutation_p.N688S|STK36_ENST00000440309.1_Missense_Mutation_p.N688S NM_015690.4 NP_056505.2 Q9NRP7 STK36_HUMAN serine/threonine kinase 36 688 cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus ATP binding|protein serine/threonine kinase activity|transcription factor binding biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 52 Renal(207;0.0915) Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984) CATTTGGCAAATCAGCTAACT 0.478000 5 46 0 0 1 0 0 NPAP1 23742 broad.mit.edu 37 15 24923301 24923301 + Missense_Mutation SNP C C T TCGA-DU-A6S8-01A-12D-A32B-08 TCGA-DU-A6S8-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c643556f-5d54-4821-b2c1-af7b5ff789d6 e33db528-eb1b-4812-9956-03280bb3bd0c g.chr15:24923301C>T ENST00000329468.2 + 1 2761 c.2287C>T c.(2287-2289)Cct>Tct p.P763S NM_018958.2 NP_061831.2 nuclear pore associated protein 1 TTCCAACCATCCTTTAAATCC 0.572000 63 172 0 0 1 0 0 FAM47A 158724 broad.mit.edu 37 X 34149549 34149549 + Missense_Mutation SNP G G A TCGA-DU-A6S8-01A-12D-A32B-08 TCGA-DU-A6S8-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c643556f-5d54-4821-b2c1-af7b5ff789d6 e33db528-eb1b-4812-9956-03280bb3bd0c g.chrX:34149549G>A ENST00000346193.3 - 1 898 c.847C>T c.(847-849)Cgg>Tgg p.R283W NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 283 NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 GTCTTCTCCCGGCCCTCACAA 0.577000 17 25 0 0 1 0 0 ZNF714 148206 broad.mit.edu 37 19 21300392 21300392 + Missense_Mutation SNP G G A TCGA-DU-A6S8-01A-12D-A32B-08 TCGA-DU-A6S8-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c643556f-5d54-4821-b2c1-af7b5ff789d6 e33db528-eb1b-4812-9956-03280bb3bd0c g.chr19:21300392G>A ENST00000596143.1 + 5 1247 c.922G>A c.(922-924)Gga>Aga p.G308R ZNF714_ENST00000601416.1_3'UTR|ZNF714_ENST00000596053.1_Intron|ZNF714_ENST00000291770.7_3'UTR NM_182515.3 NP_872321.2 Q96N38 ZN714_HUMAN zinc finger protein 714 309 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(3)|lung(11)|urinary_tract(2) 18 AATTCATTCTGGAGAGAAATC 0.328000 13 15 0 0 1 0 0 CLC 1178 broad.mit.edu 37 19 40225051 40225051 + Missense_Mutation SNP C C A TCGA-DU-A6S8-01A-12D-A32B-08 TCGA-DU-A6S8-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c643556f-5d54-4821-b2c1-af7b5ff789d6 e33db528-eb1b-4812-9956-03280bb3bd0c g.chr19:40225051C>A ENST00000221804.4 - 3 250 c.175G>T c.(175-177)Ggt>Tgt p.G59C NM_001828.5 NP_001819.2 Q05315 LPPL_HUMAN Charcot-Leyden crystal galectin 59 Galectin. lipid catabolic process|multicellular organismal development carboxylesterase activity|lysophospholipase activity|sugar binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)|stomach(1) 12 all_cancers(60;2.99e-06)|all_lung(34;4.7e-08)|Lung NSC(34;5.46e-08)|Ovarian(47;0.06) Renal(1328;0.000147)|Hepatocellular(1079;0.0202)|Myeloproliferative disorder(2;0.0255) Epithelial(26;6.43e-25)|OV - Ovarian serous cystadenocarcinoma(5;1.07e-24)|all cancers(26;8.38e-23) GBM - Glioblastoma multiforme(1328;4.97e-06)|STAD - Stomach adenocarcinoma(1328;0.00655) ACACGACGACCAAAGCACACT 0.493000 16 88 9.16793e-09 9.6994e-09 1 1 0 FOXN4 121643 broad.mit.edu 37 12 109719350 109719350 + Missense_Mutation SNP C C A TCGA-DU-A6S8-01A-12D-A32B-08 TCGA-DU-A6S8-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c643556f-5d54-4821-b2c1-af7b5ff789d6 e33db528-eb1b-4812-9956-03280bb3bd0c g.chr12:109719350C>A ENST00000299162.5 - 9 1260 c.1156G>T c.(1156-1158)Gcc>Tcc p.A386S FOXN4_ENST00000355216.1_Missense_Mutation_p.A206S NM_213596.2 NP_998761.2 Q96NZ1 FOXN4_HUMAN forkhead box N4 386 axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding large_intestine(5)|lung(9)|ovary(2) 16 TCCGGCAGGGCGTGCAGTGGC 0.657000 3 11 0.115264 0.115264 1 1 0 PLD1 5337 broad.mit.edu 37 3 171455389 171455389 + Missense_Mutation SNP G G A TCGA-DU-A6S8-01A-12D-A32B-08 TCGA-DU-A6S8-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c643556f-5d54-4821-b2c1-af7b5ff789d6 e33db528-eb1b-4812-9956-03280bb3bd0c g.chr3:171455389G>A ENST00000356327.5 - 3 291 c.221C>T c.(220-222)aCg>aTg p.T74M PLD1_ENST00000351298.4_Missense_Mutation_p.T74M|PLD1_ENST00000340989.4_Missense_Mutation_p.T74M|PLD1_ENST00000342215.6_Missense_Mutation_p.T74M NM_001130081.2 NP_001123553.1 Q13393 PLD1_HUMAN phospholipase D1, phosphatidylcholine-specific 74 cell communication|chemotaxis|Ras protein signal transduction endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity p.T74M(1) breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 63 all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) Choline(DB00122) GGAGAGATACGTCTGTATATT 0.358000 30 23 0 0 1 0 0 MYO5B 4645 broad.mit.edu 37 18 47367799 47367799 + Missense_Mutation SNP G G A TCGA-DU-A6S8-01A-12D-A32B-08 TCGA-DU-A6S8-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c643556f-5d54-4821-b2c1-af7b5ff789d6 e33db528-eb1b-4812-9956-03280bb3bd0c g.chr18:47367799G>A ENST00000285039.7 - 35 4936 c.4637C>T c.(4636-4638)aCg>aTg p.T1546M MYO5B_ENST00000592688.1_Missense_Mutation_p.T116M|MYO5B_ENST00000324581.6_Missense_Mutation_p.T661M|SCARNA17_ENST00000589499.1_RNA NM_001080467.2 NP_001073936.1 Q9ULV0 MYO5B_HUMAN myosin VB 1546 Dilute. protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) CCAGAATGACGTCATCTCAAA 0.522000 38 101 0 0 1 0 0 KIAA0319 9856 broad.mit.edu 37 6 24559320 24559320 + Silent SNP C C T TCGA-DU-A6S8-01A-12D-A32B-08 TCGA-DU-A6S8-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c643556f-5d54-4821-b2c1-af7b5ff789d6 e33db528-eb1b-4812-9956-03280bb3bd0c g.chr6:24559320C>T ENST00000535378.1 - 18 3270 c.2628G>A c.(2626-2628)gtG>gtA p.V876V KIAA0319_ENST00000430948.2_Silent_p.V840V|KIAA0319_ENST00000378214.3_Silent_p.V885V|KIAA0319_ENST00000543707.1_Silent_p.V885V|KIAA0319_ENST00000537886.1_Silent_p.V885V NM_001168374.1 NP_001161846.1 Q5VV43 K0319_HUMAN KIAA0319 885 negative regulation of dendrite development|neuron migration early endosome membrane|integral to membrane|plasma membrane protein binding breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 53 GATTTCGGGCCACTTCAGCAG 0.493000 8 21 0 0 1 0 0 ANO1 55107 broad.mit.edu 37 11 70013431 70013431 + Missense_Mutation SNP G G A TCGA-DU-A6S8-01A-12D-A32B-08 TCGA-DU-A6S8-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c643556f-5d54-4821-b2c1-af7b5ff789d6 e33db528-eb1b-4812-9956-03280bb3bd0c g.chr11:70013431G>A ENST00000355303.5 + 21 2440 c.2135G>A c.(2134-2136)cGg>cAg p.R712Q ANO1_ENST00000531349.1_Missense_Mutation_p.R421Q|ANO1_ENST00000538023.1_Missense_Mutation_p.R712Q|ANO1_ENST00000398543.2_Missense_Mutation_p.R566Q|ANO1_ENST00000530676.1_Missense_Mutation_p.R566Q NM_018043.5 NP_060513.5 Q5XXA6 ANO1_HUMAN anoctamin 1, calcium activated chloride channel 712 multicellular organismal development chloride channel complex|cytoplasm|plasma membrane intracellular calcium activated chloride channel activity central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1) 29 AGGAAACAGCGGTACGAGGTG 0.562000 6 22 0 0 1 0 0 TAS2R16 50833 broad.mit.edu 37 7 122635560 122635560 + Missense_Mutation SNP C C T TCGA-DU-A6S8-01A-12D-A32B-08 TCGA-DU-A6S8-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c643556f-5d54-4821-b2c1-af7b5ff789d6 e33db528-eb1b-4812-9956-03280bb3bd0c g.chr7:122635560C>T ENST00000249284.2 - 1 194 c.129G>A c.(127-129)atG>atA p.M43I NM_016945.2 NP_058641.1 Q9NYV7 T2R16_HUMAN taste receptor, type 2, member 16 43 detection of chemical stimulus involved in sensory perception of bitter taste endoplasmic reticulum|external side of plasma membrane|trans-Golgi network bitter taste receptor activity|protein binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 TGTCCACAGGCATCAGCCTTC 0.443000 17 33 0 0 1 0 0 SOWAHC 65124 broad.mit.edu 37 2 110373253 110373253 + Frame_Shift_Del DEL C C - TCGA-DU-A6S8-01A-12D-A32B-08 TCGA-DU-A6S8-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c643556f-5d54-4821-b2c1-af7b5ff789d6 e33db528-eb1b-4812-9956-03280bb3bd0c g.chr2:110373253delC ENST00000356454.3 + 1 1343 c.1187delC c.(1186-1188)gcfs p.A396fs NM_023016.3 NP_075392.2 Q53LP3 ANR57_HUMAN sosondowah ankyrin repeat domain family member C 396 CTGGTGGGAGCCCTGGACGAG 0.617 29 36 --- --- --- --- ERCC3 2071 broad.mit.edu 37 2 128030454 128030454 + Frame_Shift_Del DEL A A - TCGA-DU-A6S8-01A-12D-A32B-08 TCGA-DU-A6S8-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c643556f-5d54-4821-b2c1-af7b5ff789d6 e33db528-eb1b-4812-9956-03280bb3bd0c g.chr2:128030454delA ENST00000493187.2 - 11 2085 c.1622delT c.(1621-1623)acfs p.I541fs ERCC3_ENST00000285398.2_Frame_Shift_Del_p.I605fs P19447 ERCC3_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 3 605 cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction holo TFIIH complex 3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 31 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.073) GGATATGAAGATGGTGTTAAT 0.483 """Mis, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 36 66 --- --- --- --- INTS4L2 0 broad.mit.edu 37 7 65150816 65150816 + RNA DEL A A - TCGA-DU-A6S8-01A-12D-A32B-08 TCGA-DU-A6S8-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c643556f-5d54-4821-b2c1-af7b5ff789d6 e33db528-eb1b-4812-9956-03280bb3bd0c g.chr7:65150816delA ENST00000430126.2 + 0 757 TTCATCCCTCACCCCCCCCCC 0.463 4 9 --- --- --- --- ADAMTSL1 92949 broad.mit.edu 37 9 18826274 18826274 + Frame_Shift_Del DEL C C - rs80308610 TCGA-DU-A6S8-01A-12D-A32B-08 TCGA-DU-A6S8-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c643556f-5d54-4821-b2c1-af7b5ff789d6 e33db528-eb1b-4812-9956-03280bb3bd0c g.chr9:18826274delC ENST00000380545.5 + 1 139 c.30delC c.(28-30)ttfs p.F11fs ADAMTSL1_ENST00000380548.4_Intron Q8N6G6 ATL1_HUMAN ADAMTS-like 1 0 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(50;1.29e-17) TTTTTTTTTTCTTCCTAGGAG 0.488 2 4 --- --- --- --- TAF1L 138474 broad.mit.edu 37 9 32633529 32633529 + Frame_Shift_Del DEL A A - TCGA-DU-A6S8-01A-12D-A32B-08 TCGA-DU-A6S8-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c643556f-5d54-4821-b2c1-af7b5ff789d6 e33db528-eb1b-4812-9956-03280bb3bd0c g.chr9:32633529delA ENST00000242310.4 - 1 2138 c.2049delT c.(2047-2049)ttfs p.F683fs RP11-555J4.4_ENST00000430787.1_RNA NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 683 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) GTGTGCGCATAAAAAACAACT 0.453 63 38 --- --- --- --- TYSND1 219743 broad.mit.edu 37 10 71905929 71905931 + In_Frame_Del DEL CAG CAG - TCGA-DU-A6S8-01A-12D-A32B-08 TCGA-DU-A6S8-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c643556f-5d54-4821-b2c1-af7b5ff789d6 e33db528-eb1b-4812-9956-03280bb3bd0c g.chr10:71905929_71905931delCAG ENST00000287078.6 - 1 411_413 c.412_414delCTG c.(412-414)del p.L138del TYSND1_ENST00000335494.5_In_Frame_Del_p.L138del NM_173555.2 NP_775826.2 Q2T9J0 TYSD1_HUMAN trypsin domain containing 1 138 proteolysis peroxisome serine-type endopeptidase activity endometrium(2)|large_intestine(2)|liver(1)|lung(3)|prostate(1) 9 CCGGGCAGCTCAGCAGCAGCAGC 0.739 2 4 --- --- --- --- FRG2B 441581 broad.mit.edu 37 10 135438960 135438960 + Frame_Shift_Del DEL C C - TCGA-DU-A6S8-01A-12D-A32B-08 TCGA-DU-A6S8-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c643556f-5d54-4821-b2c1-af7b5ff789d6 e33db528-eb1b-4812-9956-03280bb3bd0c g.chr10:135438960delC ENST00000443774.1 - 4 532 c.483delG c.(481-483)agfs p.R161fs FRG2B_ENST00000425520.1_Frame_Shift_Del_p.R160fs Q96QU4 FRG2B_HUMAN FSHD region gene 2 family, member B 160 nucleus endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1) 20 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) GGGCCCGAGACCTATGCCGCT 0.557 7 204 --- --- --- --- RP13-726E6.2 0 broad.mit.edu 37 11 3552650 3552651 + RNA INS - - G rs34642454 TCGA-DU-A6S8-01A-12D-A32B-08 TCGA-DU-A6S8-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c643556f-5d54-4821-b2c1-af7b5ff789d6 e33db528-eb1b-4812-9956-03280bb3bd0c g.chr11:3552650_3552651insG ENST00000527970.1 - 0 285 CAGCACCCCATGGGGGGGCCCT 0.500 5 4 --- --- --- --- FOLH1B 219595 broad.mit.edu 37 11 89421732 89421734 + RNA DEL TGT TGT - TCGA-DU-A6S8-01A-12D-A32B-08 TCGA-DU-A6S8-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c643556f-5d54-4821-b2c1-af7b5ff789d6 e33db528-eb1b-4812-9956-03280bb3bd0c g.chr11:89421732_89421734delTGT ENST00000532352.1 + 0 1421 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 GAAATAATTCTGTTGTTTTATCT 0.315 25 65 --- --- --- --- MMP12 4321 broad.mit.edu 37 11 102738793 102738794 + RNA INS - - T rs35342965 by1000genomes TCGA-DU-A6S8-01A-12D-A32B-08 TCGA-DU-A6S8-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c643556f-5d54-4821-b2c1-af7b5ff789d6 e33db528-eb1b-4812-9956-03280bb3bd0c g.chr11:102738793_102738794insT ENST00000532855.1 - 0 727_728 P39900 MMP12_HUMAN matrix metallopeptidase 12 (macrophage elastase) positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 26 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.014) Acetohydroxamic Acid(DB00551) TGAGGAACAAGTGGTGCCTAAG 0.416 3 6 --- --- --- --- LRP1 4035 broad.mit.edu 37 12 57596983 57596986 + Frame_Shift_Del DEL GAGT GAGT - TCGA-DU-A6S8-01A-12D-A32B-08 TCGA-DU-A6S8-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c643556f-5d54-4821-b2c1-af7b5ff789d6 e33db528-eb1b-4812-9956-03280bb3bd0c g.chr12:57596983_57596986delGAGT ENST00000243077.3 + 69 11197_11200 c.10731_10734delGAGT c.(10729-10734)gafs p.ES3577fs NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 3577 LDL-receptor class A 27. aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) CCTGCTCCGAGAGTGAGTTCTCCT 0.676 4 7 --- --- --- --- GTF3C1 2975 broad.mit.edu 37 16 27503732 27503733 + Frame_Shift_Del DEL AT AT - TCGA-DU-A6S8-01A-12D-A32B-08 TCGA-DU-A6S8-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c643556f-5d54-4821-b2c1-af7b5ff789d6 e33db528-eb1b-4812-9956-03280bb3bd0c g.chr16:27503732_27503733delAT ENST00000356183.4 - 19 3092_3093 c.3077_3078delAT c.(3076-3078)tfs p.Y1026fs GTF3C1_ENST00000561623.1_Frame_Shift_Del_p.Y1026fs NM_001520.3 NP_001511.2 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1, alpha 220kDa 1026 transcription factor TFIIIC complex DNA binding|protein binding breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 80 AGTTCAGGACATAGAGGCGCCT 0.540 31 57 --- --- --- --- RP11-178C3.2 0 broad.mit.edu 37 17 58066608 58066608 + RNA DEL T T - TCGA-DU-A6S8-01A-12D-A32B-08 TCGA-DU-A6S8-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c643556f-5d54-4821-b2c1-af7b5ff789d6 e33db528-eb1b-4812-9956-03280bb3bd0c g.chr17:58066608delT ENST00000586209.1 + 0 158 TTGATTGTGATTTTTTTTTTT 0.313 2 4 --- --- --- --- NDUFA7 4701 broad.mit.edu 37 19 8381422 8381424 + In_Frame_Del DEL ATG ATG - TCGA-DU-A6S8-01A-12D-A32B-08 TCGA-DU-A6S8-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx c643556f-5d54-4821-b2c1-af7b5ff789d6 e33db528-eb1b-4812-9956-03280bb3bd0c g.chr19:8381422_8381424delATG ENST00000301457.2 - 3 244_246 c.207_209delCAT c.(205-210)atg>at p.IM69del NDUFA7_ENST00000598884.1_In_Frame_Del_p.IM69del NM_005001.3 NP_004992.2 O95182 NDUA7_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7, 14.5kDa 69 mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity NS(1)|central_nervous_system(1)|lung(2)|ovary(1) 5 NADH(DB00157) CTGCGACGACATGATGATGGAAG 0.611 29 68 --- --- --- ---