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 RIF1 55183 broad.mit.edu 37 2 152311623 152311623 + Missense_Mutation SNP A A C TCGA-DB-A75K-01A-11D-A32B-08 TCGA-DB-A75K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3788075-215e-4535-b4bd-cc40fdaf52aa fed87034-a0a0-4c98-a951-f1a46983aba5 g.chr2:152311623A>C ENST00000243326.4 + 21 3042 c.2559A>C c.(2557-2559)aaA>aaC p.K853N RIF1_ENST00000444746.2_Missense_Mutation_p.K853N|RIF1_ENST00000430328.2_Missense_Mutation_p.K853N|RIF1_ENST00000428287.2_Missense_Mutation_p.K853N|RIF1_ENST00000453091.2_Missense_Mutation_p.K853N Q5UIP0 RIF1_HUMAN RAP1 interacting factor homolog (yeast) 853 cell cycle|response to DNA damage stimulus chromosome, telomeric region|cytoplasm|nucleus|spindle binding NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 97 BRCA - Breast invasive adenocarcinoma(221;0.0429) TGATCCGAAAAATATTTGCAA 0.333000 51 57 0 0 1 0 0 HMGB2 3148 broad.mit.edu 37 4 174254742 174254742 + Missense_Mutation SNP A A C TCGA-DB-A75K-01A-11D-A32B-08 TCGA-DB-A75K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3788075-215e-4535-b4bd-cc40fdaf52aa fed87034-a0a0-4c98-a951-f1a46983aba5 g.chr4:174254742A>C ENST00000296503.5 - 2 932 c.59T>G c.(58-60)gTg>gGg p.V20G HMGB2_ENST00000438704.2_Missense_Mutation_p.V20G|HMGB2_ENST00000446922.2_Missense_Mutation_p.V20G P26583 HMGB2_HUMAN high mobility group box 2 20 base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3) 14 Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122) all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249) GCAGGTCTGCACGAAGAAGGC 0.577000 6 80 0 0 1 0 0 CDC42BPG 55561 broad.mit.edu 37 11 64595069 64595069 + Silent SNP A A G TCGA-DB-A75K-01A-11D-A32B-08 TCGA-DB-A75K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3788075-215e-4535-b4bd-cc40fdaf52aa fed87034-a0a0-4c98-a951-f1a46983aba5 g.chr11:64595069A>G ENST00000342711.5 - 32 4079 c.4080T>C c.(4078-4080)aaT>aaC p.N1360N NM_017525.2 NP_059995.2 Q6DT37 MRCKG_HUMAN CDC42 binding protein kinase gamma (DMPK-like) 1360 CNH. actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|centrosome ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity central_nervous_system(1)|lung(3) 4 AGCCCTCTGGATTGAGGGGCC 0.677000 5 8 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196756529 196756529 + Splice_Site SNP C C A TCGA-DB-A75K-01A-11D-A32B-08 TCGA-DB-A75K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3788075-215e-4535-b4bd-cc40fdaf52aa fed87034-a0a0-4c98-a951-f1a46983aba5 g.chr2:196756529C>A ENST00000312428.6 - 31 4997 c.e31-1 NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 CCATTAGCCCCTTAATGAAAA 0.313000 4 26 0.00909568 0.00909568 1 1 0 FANCI 55215 broad.mit.edu 37 15 89837157 89837157 + Missense_Mutation SNP A A C TCGA-DB-A75K-01A-11D-A32B-08 TCGA-DB-A75K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3788075-215e-4535-b4bd-cc40fdaf52aa fed87034-a0a0-4c98-a951-f1a46983aba5 g.chr15:89837157A>C ENST00000310775.7 + 23 2471 c.2385A>C c.(2383-2385)aaA>aaC p.K795N FANCI_ENST00000300027.8_Missense_Mutation_p.K795N NM_001113378.1 NP_001106849.1 Q9NVI1 FANCI_HUMAN Fanconi anemia, complementation group I 795 cell cycle|DNA repair nucleoplasm protein binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Lung NSC(78;0.0472)|all_lung(78;0.089) CCAAAACTAAAATGGCCAACA 0.363000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 30 68 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628278 29628278 + Missense_Mutation SNP G G A TCGA-DB-A75K-01A-11D-A32B-08 TCGA-DB-A75K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3788075-215e-4535-b4bd-cc40fdaf52aa fed87034-a0a0-4c98-a951-f1a46983aba5 g.chr20:29628278G>A ENST00000278882.3 + 6 660 c.280G>A c.(280-282)Gca>Aca p.A94T FRG1B_ENST00000358464.4_Missense_Mutation_p.A94T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A99T endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGCAATGAAGCAGGGGACAT 0.373000 4 155 0 0 1 0 0 NPC1L1 29881 broad.mit.edu 37 7 44579885 44579885 + Silent SNP G G A rs143153721 TCGA-DB-A75K-01A-11D-A32B-08 TCGA-DB-A75K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3788075-215e-4535-b4bd-cc40fdaf52aa fed87034-a0a0-4c98-a951-f1a46983aba5 g.chr7:44579885G>A ENST00000289547.4 - 2 166 c.111C>T c.(109-111)gaC>gaT p.D37D NPC1L1_ENST00000546276.1_Silent_p.D37D|NPC1L1_ENST00000423141.1_Silent_p.D37D|NPC1L1_ENST00000381160.3_Silent_p.D37D NM_013389.2 NP_037521.2 Q9UHC9 NPCL1_HUMAN NPC1-like 1 37 cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 57 Ezetimibe(DB00973) TCCCACATTCGTCATAGAAGG 0.592000 18 44 0 0 1 0 0 CYLC1 1538 broad.mit.edu 37 X 83126517 83126517 + Missense_Mutation SNP A A G TCGA-DB-A75K-01A-11D-A32B-08 TCGA-DB-A75K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3788075-215e-4535-b4bd-cc40fdaf52aa fed87034-a0a0-4c98-a951-f1a46983aba5 g.chrX:83126517A>G ENST00000329312.4 + 3 153 c.116A>G c.(115-117)aAa>aGa p.K39R NM_021118.1 NP_066941.1 P35663 CYLC1_HUMAN cylicin, basic protein of sperm head cytoskeleton 1 39 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 ACATTTCCCAAACCACTCCAG 0.303000 24 41 0 0 1 0 0 FHOD1 29109 broad.mit.edu 37 16 67264350 67264350 + Missense_Mutation SNP A A C TCGA-DB-A75K-01A-11D-A32B-08 TCGA-DB-A75K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3788075-215e-4535-b4bd-cc40fdaf52aa fed87034-a0a0-4c98-a951-f1a46983aba5 g.chr16:67264350A>C ENST00000258201.4 - 19 3165 c.2918T>G c.(2917-2919)aTc>aGc p.I973S FHOD1_ENST00000567687.1_Missense_Mutation_p.I552S NM_013241.2 NP_037373.2 Q9Y613 FHOD1_HUMAN formin homology 2 domain containing 1 973 FH2. actin cytoskeleton organization cytoplasm|cytoskeleton|nucleus actin binding breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 34 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434) GAACTGCATGATGCGCACTTC 0.592000 23 49 0 0 1 0 0 VSIG4 11326 broad.mit.edu 37 X 65247907 65247907 + Missense_Mutation SNP T T C TCGA-DB-A75K-01A-11D-A32B-08 TCGA-DB-A75K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3788075-215e-4535-b4bd-cc40fdaf52aa fed87034-a0a0-4c98-a951-f1a46983aba5 g.chrX:65247907T>C ENST00000455586.2 - 4 868 c.742A>G c.(742-744)Aca>Gca p.T248A VSIG4_ENST00000412866.2_Missense_Mutation_p.T154A|VSIG4_ENST00000374737.4_Missense_Mutation_p.T248A NM_001184830.1 NP_001171759.1 Q9Y279 VSIG4_HUMAN V-set and immunoglobulin domain containing 4 248 complement activation, alternative pathway integral to membrane protein binding breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 AAGGGGTATGTCATGGTTGTA 0.458000 26 54 0 0 1 0 0 ITGAM 3684 broad.mit.edu 37 16 31309175 31309175 + Missense_Mutation SNP C C T TCGA-DB-A75K-01A-11D-A32B-08 TCGA-DB-A75K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3788075-215e-4535-b4bd-cc40fdaf52aa fed87034-a0a0-4c98-a951-f1a46983aba5 g.chr16:31309175C>T ENST00000544665.3 + 14 1681 c.1610C>T c.(1609-1611)aCg>aTg p.T537M ITGAM_ENST00000287497.8_Missense_Mutation_p.T536M NM_000632.3|NM_001145808.1 NP_000623.2|NP_001139280.1 P11215 ITAM_HUMAN integrin, alpha M (complement component 3 receptor 3 subunit) 536 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration integrin complex glycoprotein binding|receptor activity endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1) 56 GACAAGCTGACGGACGTGGCC 0.622000 26 50 0 0 1 0 0 RP11-1166P10.6 0 broad.mit.edu 37 16 32070612 32070612 + RNA SNP A A C TCGA-DB-A75K-01A-11D-A32B-08 TCGA-DB-A75K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3788075-215e-4535-b4bd-cc40fdaf52aa fed87034-a0a0-4c98-a951-f1a46983aba5 g.chr16:32070612A>C ENST00000566806.1 - 0 499 GGTCTCCTGCAAGGCTTCTGG 0.552000 3 58 0 0 1 0 0 TUBBP5 0 broad.mit.edu 37 9 141070768 141070768 + RNA SNP C C T rs4609262 by1000genomes TCGA-DB-A75K-01A-11D-A32B-08 TCGA-DB-A75K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3788075-215e-4535-b4bd-cc40fdaf52aa fed87034-a0a0-4c98-a951-f1a46983aba5 g.chr9:141070768C>T ENST00000503395.1 + 0 1543 GCTGTGACTGCCTGCAGGGTT 0.617000 6 17 0 0 1 0 0 ARSH 347527 broad.mit.edu 37 X 2933251 2933251 + Nonsense_Mutation SNP G G A TCGA-DB-A75K-01A-11D-A32B-08 TCGA-DB-A75K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3788075-215e-4535-b4bd-cc40fdaf52aa fed87034-a0a0-4c98-a951-f1a46983aba5 g.chrX:2933251G>A ENST00000381130.2 + 4 581 c.581G>A c.(580-582)tGg>tAg p.W194* NM_001011719.1 NP_001011719.1 Q5FYA8 ARSH_HUMAN arylsulfatase family, member H 194 integral to membrane arylsulfatase activity|metal ion binding breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1) 34 all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186) TCAGTGCCATGGAAGGTCATC 0.498000 11 19 0 0 1 0 0 ZIC3 7547 broad.mit.edu 37 X 136649636 136649636 + Silent SNP C C T TCGA-DB-A75K-01A-11D-A32B-08 TCGA-DB-A75K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3788075-215e-4535-b4bd-cc40fdaf52aa fed87034-a0a0-4c98-a951-f1a46983aba5 g.chrX:136649636C>T ENST00000287538.5 + 1 1336 c.786C>T c.(784-786)agC>agT p.S262S ZIC3_ENST00000370606.3_Silent_p.S262S NM_003413.3 NP_003404.1 O60481 ZIC3_HUMAN Zic family member 3 262 cell differentiation|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1) 37 Acute lymphoblastic leukemia(192;0.000127) CTCAGCTGAGCCGGCCCAAGA 0.632000 39 44 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179433400 179433400 + Missense_Mutation SNP G G A TCGA-DB-A75K-01A-11D-A32B-08 TCGA-DB-A75K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3788075-215e-4535-b4bd-cc40fdaf52aa fed87034-a0a0-4c98-a951-f1a46983aba5 g.chr2:179433400G>A ENST00000589042.1 - 326 77683 c.77459C>T c.(77458-77460)cCa>cTa p.P25820L TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P16755L|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P24179L|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P23252L|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P16947L|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P16880L|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 24179 Fibronectin type-III 87. 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) TCCAGAAATTGGCACTTCTAT 0.433000 32 51 0 0 1 0 0 YIPF6 286451 broad.mit.edu 37 X 67751800 67751800 + Missense_Mutation SNP T T A TCGA-DB-A75K-01A-11D-A32B-08 TCGA-DB-A75K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3788075-215e-4535-b4bd-cc40fdaf52aa fed87034-a0a0-4c98-a951-f1a46983aba5 g.chrX:67751800T>A ENST00000462683.1 + 7 1414 c.670T>A c.(670-672)Ttt>Att p.F224I YIPF6_ENST00000374622.2_Missense_Mutation_p.F181I NM_173834.3 NP_776195.2 Q96EC8 YIPF6_HUMAN Yip1 domain family, member 6 224 endoplasmic reticulum|integral to membrane cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1) 7 CCTGTTTTACTTTGTCATCAG 0.403000 6 15 0 0 1 0 0 LPA 4018 broad.mit.edu 37 6 161026077 161026077 + Splice_Site SNP C C T TCGA-DB-A75K-01A-11D-A32B-08 TCGA-DB-A75K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3788075-215e-4535-b4bd-cc40fdaf52aa fed87034-a0a0-4c98-a951-f1a46983aba5 g.chr6:161026077C>T ENST00000447678.1 - 19 3066 c.e19+1 LPA_ENST00000316300.5_Splice_Site NM_005577.2 NP_005568.2 P08519 APOA_HUMAN lipoprotein, Lp(a) blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity p.?(1) NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) AATAGACATACGCATTTGGGT 0.443000 5 421 0 0 1 0 0 TPTE2P6 0 broad.mit.edu 37 13 25168432 25168432 + RNA SNP T T C rs149337771 by1000genomes TCGA-DB-A75K-01A-11D-A32B-08 TCGA-DB-A75K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3788075-215e-4535-b4bd-cc40fdaf52aa fed87034-a0a0-4c98-a951-f1a46983aba5 g.chr13:25168432T>C ENST00000453498.1 + 0 1104 TTGAAACAGCTGGTGTATTAA 0.373000 3 32 0 0 1 0 0 CDHR1 92211 broad.mit.edu 37 10 85961671 85961671 + Missense_Mutation SNP G G A TCGA-DB-A75K-01A-11D-A32B-08 TCGA-DB-A75K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3788075-215e-4535-b4bd-cc40fdaf52aa fed87034-a0a0-4c98-a951-f1a46983aba5 g.chr10:85961671G>A ENST00000372117.3 + 7 737 c.634G>A c.(634-636)Gcc>Acc p.A212T CDHR1_ENST00000332904.3_Missense_Mutation_p.A212T|CDHR1_ENST00000440770.2_5'UTR NM_033100.2 NP_149091.1 Q96JP9 CDHR1_HUMAN cadherin-related family member 1 212 Cadherin 2. A -> T. homophilic cell adhesion calcium ion binding|receptor activity breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1) 36 CACCGTGGTCGCCAAGGTAAC 0.617000 8 15 0 0 1 0 0 ALOX15 246 broad.mit.edu 37 17 4542424 4542424 + Missense_Mutation SNP C C T TCGA-DB-A75K-01A-11D-A32B-08 TCGA-DB-A75K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3788075-215e-4535-b4bd-cc40fdaf52aa fed87034-a0a0-4c98-a951-f1a46983aba5 g.chr17:4542424C>T ENST00000570836.1 - 4 437 c.341G>A c.(340-342)cGc>cAc p.R114H ALOX15_ENST00000293761.3_Missense_Mutation_p.R114H|ALOX15_ENST00000545513.1_Missense_Mutation_p.R136H|ALOX15_ENST00000574640.1_Missense_Mutation_p.R75H P16050 LOX15_HUMAN arachidonate 15-lipoxygenase 114 PLAT. inflammatory response|leukotriene biosynthetic process nucleus arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity p.R114H(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5) 20 READ - Rectum adenocarcinoma(115;0.0327) Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744) GCCCACAGTGCGGCCTAGAAG 0.607000 4 172 0 0 1 0 0 CSTF3 1479 broad.mit.edu 37 11 33108639 33108639 + Missense_Mutation SNP C C A TCGA-DB-A75K-01A-11D-A32B-08 TCGA-DB-A75K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3788075-215e-4535-b4bd-cc40fdaf52aa fed87034-a0a0-4c98-a951-f1a46983aba5 g.chr11:33108639C>A ENST00000323959.4 - 18 1829 c.1690G>T c.(1690-1692)Gct>Tct p.A564S TCP11L1_ENST00000324357.9_Intron NM_001326.2 NP_001317.1 Q12996 CSTF3_HUMAN cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa 564 Pro-rich. mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nucleoplasm protein binding|RNA binding breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1) 19 ATAGAAGGAGCTACAACTGGG 0.433000 105 155 5.62818e-54 6.06961e-54 1 1 0 MYLK3 91807 broad.mit.edu 37 16 46762982 46762982 + Missense_Mutation SNP A A C TCGA-DB-A75K-01A-11D-A32B-08 TCGA-DB-A75K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3788075-215e-4535-b4bd-cc40fdaf52aa fed87034-a0a0-4c98-a951-f1a46983aba5 g.chr16:46762982A>C ENST00000394809.4 - 7 1841 c.1726T>G c.(1726-1728)Tat>Gat p.Y576D MYLK3_ENST00000536476.1_Missense_Mutation_p.Y235D NM_182493.2 NP_872299.2 Q32MK0 MYLK3_HUMAN myosin light chain kinase 3 576 Protein kinase. cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis cytosol ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3) 37 all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) AAGGCGTCATAGAGCTGGATC 0.577000 32 88 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-DB-A75K-01A-11D-A32B-08 TCGA-DB-A75K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3788075-215e-4535-b4bd-cc40fdaf52aa fed87034-a0a0-4c98-a951-f1a46983aba5 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_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 34 0 0 1 0 0 FUCA2 2519 broad.mit.edu 37 6 143818529 143818529 + Silent SNP T T G TCGA-DB-A75K-01A-11D-A32B-08 TCGA-DB-A75K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3788075-215e-4535-b4bd-cc40fdaf52aa fed87034-a0a0-4c98-a951-f1a46983aba5 g.chr6:143818529T>G ENST00000002165.5 - 6 1315 c.1260A>C c.(1258-1260)acA>acC p.T420T RP1-20N2.6_ENST00000589563.1_RNA|RP1-20N2.6_ENST00000591892.1_RNA|FUCA2_ENST00000438118.2_3'UTR NM_032020.4 NP_114409.2 Q9BTY2 FUCO2_HUMAN fucosidase, alpha-L- 2, plasma 420 fucose metabolic process extracellular region alpha-L-fucosidase activity|cation binding endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142) CTCTTACCTCTGTTGCCCCCA 0.388000 19 22 0 0 1 0 0 GNAS 2778 broad.mit.edu 37 20 57415667 57415667 + Missense_Mutation SNP G G A TCGA-DB-A75K-01A-11D-A32B-08 TCGA-DB-A75K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3788075-215e-4535-b4bd-cc40fdaf52aa fed87034-a0a0-4c98-a951-f1a46983aba5 g.chr20:57415667G>A ENST00000313949.7 + 1 895 c.506G>A c.(505-507)cGa>cAa p.R169Q GNAS-AS1_ENST00000443966.1_RNA|GNAS_ENST00000371075.3_Missense_Mutation_p.R169Q|GNAS_ENST00000371098.2_Missense_Mutation_p.R169Q|GNAS-AS1_ENST00000424094.2_RNA|GNAS-AS1_ENST00000598163.1_RNA P63092 GNAS2_HUMAN GNAS complex locus 0 activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1) 441 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) CTCAAGTTGCGAAGCCCCGAC 0.682000 Mis pituitary adenoma """McCune-Albright syndrome; pseudohypoparathyroidism, type IA""" TSP Lung(22;0.16) 15 12 0 0 1 0 0 UTP20 27340 broad.mit.edu 37 12 101720955 101720955 + Silent SNP C C T TCGA-DB-A75K-01A-11D-A32B-08 TCGA-DB-A75K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3788075-215e-4535-b4bd-cc40fdaf52aa fed87034-a0a0-4c98-a951-f1a46983aba5 g.chr12:101720955C>T ENST00000261637.4 + 26 3312 c.3138C>T c.(3136-3138)gcC>gcT p.A1046A NM_014503.2 NP_055318.2 O75691 UTP20_HUMAN UTP20, small subunit (SSU) processome component, homolog (yeast) 1046 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 GGTTCCTGGCCGGGACCCAAC 0.478000 39 78 0 0 1 0 0 HNRNPA1 3178 broad.mit.edu 37 12 54676979 54676979 + Missense_Mutation SNP T T G TCGA-DB-A75K-01A-11D-A32B-08 TCGA-DB-A75K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3788075-215e-4535-b4bd-cc40fdaf52aa fed87034-a0a0-4c98-a951-f1a46983aba5 g.chr12:54676979T>G ENST00000340913.6 + 8 921 c.868T>G c.(868-870)Tat>Gat p.Y290D HNRNPA1_ENST00000547276.1_Intron|HNRNPA1_ENST00000330752.8_Intron|HNRNPA1_ENST00000546500.1_Intron|RP11-968A15.8_ENST00000553061.1_RNA NM_002136.2|NM_031157.2 NP_002127.1|NP_112420.1 P09651 ROA1_HUMAN heterogeneous nuclear ribonucleoprotein A1 290 Gly-rich. interspecies interaction between organisms|mRNA transport|nuclear import catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm nucleotide binding|protein binding|single-stranded DNA binding endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 20 CTATGACAGCTATAACAACGG 0.552000 6 12 0 0 1 0 0 DMD 1756 broad.mit.edu 37 X 31241162 31241162 + Splice_Site SNP A A T TCGA-DB-A75K-01A-11D-A32B-08 TCGA-DB-A75K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3788075-215e-4535-b4bd-cc40fdaf52aa fed87034-a0a0-4c98-a951-f1a46983aba5 g.chrX:31241162A>T ENST00000357033.4 - 64 9568 c.e64+1 DMD_ENST00000378702.4_Splice_Site|DMD_ENST00000378707.3_Splice_Site|DMD_ENST00000378677.2_Splice_Site|DMD_ENST00000359836.1_Splice_Site|DMD_ENST00000361471.4_Splice_Site|DMD_ENST00000474231.1_Splice_Site|DMD_ENST00000378680.2_Splice_Site|DMD_ENST00000343523.2_Splice_Site|DMD_ENST00000378723.3_Splice_Site|DMD_ENST00000541735.1_Splice_Site NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) GCCAATACTTACAGCAAAGGG 0.408000 41 57 0 0 1 0 0 NF1 4763 broad.mit.edu 37 17 29684326 29684326 + Nonsense_Mutation SNP C C T TCGA-DB-A75K-01A-11D-A32B-08 TCGA-DB-A75K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3788075-215e-4535-b4bd-cc40fdaf52aa fed87034-a0a0-4c98-a951-f1a46983aba5 g.chr17:29684326C>T ENST00000358273.4 + 54 8292 c.7909C>T c.(7909-7911)Cga>Tga p.R2637* NF1_ENST00000444181.2_Nonsense_Mutation_p.R430*|NF1_ENST00000417592.2_3'UTR|NF1_ENST00000356175.3_Nonsense_Mutation_p.R2616* NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 2637 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(3)|p.R2637*(1) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) GTTTGATCAACGAATTCTTTA 0.368000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 34 76 0 0 1 0 0 CDC73 79577 broad.mit.edu 37 1 193111044 193111044 + Missense_Mutation SNP A A G TCGA-DB-A75K-01A-11D-A32B-08 TCGA-DB-A75K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3788075-215e-4535-b4bd-cc40fdaf52aa fed87034-a0a0-4c98-a951-f1a46983aba5 g.chr1:193111044A>G ENST00000367435.3 + 7 761 c.577A>G c.(577-579)Aaa>Gaa p.K193E NM_024529.4 NP_078805.3 Q6P1J9 CDC73_HUMAN cell division cycle 73 193 cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent Cdc73/Paf1 complex protein binding breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1) 87 TATGGCTAAGAAAAGATCTAC 0.373000 26 21 0 0 1 0 0 EPB41L1 2036 broad.mit.edu 37 20 34776386 34776386 + Missense_Mutation SNP A A T TCGA-DB-A75K-01A-11D-A32B-08 TCGA-DB-A75K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3788075-215e-4535-b4bd-cc40fdaf52aa fed87034-a0a0-4c98-a951-f1a46983aba5 g.chr20:34776386A>T ENST00000338074.2 + 9 1152 c.991A>T c.(991-993)Agg>Tgg p.R331W EPB41L1_ENST00000373950.2_Missense_Mutation_p.R234W|EPB41L1_ENST00000373946.3_Missense_Mutation_p.R300W|EPB41L1_ENST00000373941.1_Missense_Mutation_p.R331W|EPB41L1_ENST00000441639.1_Missense_Mutation_p.R269W|EPB41L1_ENST00000202028.5_Missense_Mutation_p.R269W NM_001258329.1|NM_012156.2 NP_001245258.1|NP_036288.2 Q9H4G0 E41L1_HUMAN erythrocyte membrane protein band 4.1-like 1 331 FERM. cortical actin cytoskeleton organization|synaptic transmission cytoskeleton|cytosol|extrinsic to membrane|plasma membrane actin binding|structural molecule activity breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 37 Breast(12;0.0239) CTCCTACAAGAGGAGTAACTT 0.537000 15 30 0 0 1 0 0 DNASE1L1 1774 broad.mit.edu 37 X 153631307 153631307 + Silent SNP C C T TCGA-DB-A75K-01A-11D-A32B-08 TCGA-DB-A75K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3788075-215e-4535-b4bd-cc40fdaf52aa fed87034-a0a0-4c98-a951-f1a46983aba5 g.chrX:153631307C>T ENST00000369809.1 - 9 1379 c.750G>A c.(748-750)acG>acA p.T250T DNASE1L1_ENST00000393638.1_Silent_p.T250T NM_001009932.1 NP_001009932.1 P49184 DNSL1_HUMAN deoxyribonuclease I-like 1 250 DNA catabolic process endoplasmic reticulum DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters lung(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GCTGGAAGCTCGTGGGGAAGT 0.682000 29 31 0 0 1 0 0 TAF1 6872 broad.mit.edu 37 X 70607290 70607290 + Silent SNP G G A TCGA-DB-A75K-01A-11D-A32B-08 TCGA-DB-A75K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3788075-215e-4535-b4bd-cc40fdaf52aa fed87034-a0a0-4c98-a951-f1a46983aba5 g.chrX:70607290G>A ENST00000449580.1 + 15 2454 c.2403G>A c.(2401-2403)acG>acA p.T801T TAF1_ENST00000276072.3_Silent_p.T822T|TAF1_ENST00000373790.4_Silent_p.T801T|TAF1_ENST00000423759.1_Silent_p.T822T P21675 TAF1_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa 801 G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction MLL1 complex|transcription factor TFIID complex ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity p.T801T(1) breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 124 Renal(35;0.156) all_lung(315;0.000321) GGGCCAATACGCATATTCGAG 0.493000 31 56 0 0 1 0 0 PTPN23 25930 broad.mit.edu 37 3 47451444 47451444 + Missense_Mutation SNP G G A TCGA-DB-A75K-01A-11D-A32B-08 TCGA-DB-A75K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3788075-215e-4535-b4bd-cc40fdaf52aa fed87034-a0a0-4c98-a951-f1a46983aba5 g.chr3:47451444G>A ENST00000265562.4 + 20 2233 c.2156G>A c.(2155-2157)cGg>cAg p.R719Q PTPN23_ENST00000431726.1_Missense_Mutation_p.R593Q NM_015466.2 NP_056281.1 Q9H3S7 PTN23_HUMAN protein tyrosine phosphatase, non-receptor type 23 719 Pro-rich. cilium morphogenesis cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body protein tyrosine phosphatase activity breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 23 BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CCGCCGCCACGGCCCACAGCC 0.677000 6 9 0 0 1 0 0 BCL9 607 broad.mit.edu 37 1 147092733 147092733 + Silent SNP A A G TCGA-DB-A75K-01A-11D-A32B-08 TCGA-DB-A75K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3788075-215e-4535-b4bd-cc40fdaf52aa fed87034-a0a0-4c98-a951-f1a46983aba5 g.chr1:147092733A>G ENST00000234739.3 + 8 3512 c.2772A>G c.(2770-2772)ccA>ccG p.P924P NM_004326.2 NP_004317.2 O00512 BCL9_HUMAN B-cell CLL/lymphoma 9 924 Pro-rich. Wnt receptor signaling pathway nucleus protein binding breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 7 all_hematologic(923;0.115) TCAAGTCTCCATCACTTCCTG 0.592000 T """IGH@, IGL@""" B-ALL 30 66 0 0 1 0 0 SLITRK4 139065 broad.mit.edu 37 X 142716809 142716809 + Missense_Mutation SNP C C T TCGA-DB-A75K-01A-11D-A32B-08 TCGA-DB-A75K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3788075-215e-4535-b4bd-cc40fdaf52aa fed87034-a0a0-4c98-a951-f1a46983aba5 g.chrX:142716809C>T ENST00000381779.4 - 2 2341 c.2116G>A c.(2116-2118)Gaa>Aaa p.E706K SLITRK4_ENST00000338017.4_Missense_Mutation_p.E706K|SLITRK4_ENST00000356928.1_Missense_Mutation_p.E706K NM_001184749.1|NM_001184750.1|NM_173078.3 NP_001171678.1|NP_001171679.1|NP_775101.1 Q8IW52 SLIK4_HUMAN SLIT and NTRK-like family, member 4 706 integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 60 Acute lymphoblastic leukemia(192;6.56e-05) AACCCAGTTTCTGACTCTTTC 0.408000 74 113 0 0 1 0 0 MC5R 4161 broad.mit.edu 37 18 13826400 13826400 + Silent SNP G G A TCGA-DB-A75K-01A-11D-A32B-08 TCGA-DB-A75K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3788075-215e-4535-b4bd-cc40fdaf52aa fed87034-a0a0-4c98-a951-f1a46983aba5 g.chr18:13826400G>A ENST00000324750.3 + 1 858 c.636G>A c.(634-636)gcG>gcA p.A212A NM_005913.2 NP_005904.1 P33032 MC5R_HUMAN melanocortin 5 receptor 212 G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocortin receptor activity|protein binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1) 41 TCCTCCTGGCGCGGACTCACG 0.612000 9 593 0 0 1 0 0 CCR3 1232 broad.mit.edu 37 3 46307553 46307553 + Missense_Mutation SNP G G A rs139319342 by1000genomes TCGA-DB-A75K-01A-11D-A32B-08 TCGA-DB-A75K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3788075-215e-4535-b4bd-cc40fdaf52aa fed87034-a0a0-4c98-a951-f1a46983aba5 g.chr3:46307553G>A ENST00000357422.2 + 4 1447 c.904G>A c.(904-906)Gcc>Acc p.A302T CCR3_ENST00000545097.1_Missense_Mutation_p.A323T|CCR3_ENST00000395942.2_Missense_Mutation_p.A302T|CCR3_ENST00000395940.2_Missense_Mutation_p.A302T|CCR3_ENST00000541018.1_Missense_Mutation_p.A302T P51677 CCR3_HUMAN chemokine (C-C motif) receptor 3 302 cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis integral to plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216) GGTGATCTACGCCTTTGTTGG 0.537000 18 29 0 0 1 0 0 RBM15 64783 broad.mit.edu 37 1 110884424 110884424 + Missense_Mutation SNP T T G TCGA-DB-A75K-01A-11D-A32B-08 TCGA-DB-A75K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3788075-215e-4535-b4bd-cc40fdaf52aa fed87034-a0a0-4c98-a951-f1a46983aba5 g.chr1:110884424T>G ENST00000369784.3 + 1 3297 c.2397T>G c.(2395-2397)ttT>ttG p.F799L RBM15_ENST00000487146.2_Missense_Mutation_p.F799L|RBM15_ENST00000602849.1_Missense_Mutation_p.F799L NM_022768.4 NP_073605.4 Q96T37 RBM15_HUMAN RNA binding motif protein 15 799 SPOC. interspecies interaction between organisms nucleus nucleotide binding|protein binding|RNA binding ovary(3) 3 all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634) BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135) ACAGCAACTTTCCTTCCAACA 0.547000 T MKL1 acute megakaryocytic leukemia 4 42 0 0 1 0 0 ARSD 414 broad.mit.edu 37 X 2827921 2827921 + Missense_Mutation SNP G G A TCGA-DB-A75K-01A-11D-A32B-08 TCGA-DB-A75K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3788075-215e-4535-b4bd-cc40fdaf52aa fed87034-a0a0-4c98-a951-f1a46983aba5 g.chrX:2827921G>A ENST00000381154.1 - 8 1310 c.1235C>T c.(1234-1236)aCg>aTg p.T412M NM_001669.3 NP_001660.2 P51689 ARSD_HUMAN arylsulfatase D 412 lysosome arylsulfatase activity|metal ion binding large_intestine(3)|lung(3) 6 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) CATCAGGCTCGTGGGCTCTCC 0.642000 18 33 0 0 1 0 0 CA1 759 broad.mit.edu 37 8 86249204 86249204 + Silent SNP A A G TCGA-DB-A75K-01A-11D-A32B-08 TCGA-DB-A75K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3788075-215e-4535-b4bd-cc40fdaf52aa fed87034-a0a0-4c98-a951-f1a46983aba5 g.chr8:86249204A>G ENST00000523953.1 - 5 1370 c.324T>C c.(322-324)caT>caC p.H108H CA1_ENST00000523022.1_Silent_p.H108H|CA1_ENST00000432364.2_Silent_p.H108H|CA1_ENST00000542576.1_Silent_p.H108H|CA1_ENST00000518341.1_5'UTR|CA1_ENST00000431316.1_Silent_p.H108H|CA1_ENST00000256119.5_Silent_p.H108H|CA1_ENST00000522389.1_Intron P00915 CAH1_HUMAN carbonic anhydrase I 108 one-carbon metabolic process Golgi apparatus carbonate dehydratase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1) 13 all_lung(136;4.89e-06) Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dichlorphenamide(DB01144)|Ethinamate(DB01031)|Ethoxzolamide(DB00311)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Levetiracetam(DB01202)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Verapamil(DB00661)|Zonisamide(DB00909) CATCCACTGTATGTTCTGAAC 0.433000 4 73 0 0 1 0 0 TTC7A 57217 broad.mit.edu 37 2 47222318 47222318 + Missense_Mutation SNP C C A TCGA-DB-A75K-01A-11D-A32B-08 TCGA-DB-A75K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3788075-215e-4535-b4bd-cc40fdaf52aa fed87034-a0a0-4c98-a951-f1a46983aba5 g.chr2:47222318C>A ENST00000319190.5 + 8 1413 c.1045C>A c.(1045-1047)Ctc>Atc p.L349I TTC7A_ENST00000409245.1_Missense_Mutation_p.L315I|TTC7A_ENST00000394850.2_Missense_Mutation_p.L349I|TTC7A_ENST00000263737.6_5'UTR|TTC7A_ENST00000461601.1_3'UTR NM_020458.2 NP_065191.2 Q9ULT0 TTC7A_HUMAN tetratricopeptide repeat domain 7A 349 binding breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114) CCTCCTGCTCCTCCTCATCAG 0.607000 3 27 0.00024832 0.000252919 1 1 0 VSNL1 7447 broad.mit.edu 37 2 17836522 17836522 + Missense_Mutation SNP C C T TCGA-DB-A75K-01A-11D-A32B-08 TCGA-DB-A75K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3788075-215e-4535-b4bd-cc40fdaf52aa fed87034-a0a0-4c98-a951-f1a46983aba5 g.chr2:17836522C>T ENST00000406397.1 + 4 962 c.437C>T c.(436-438)aCg>aTg p.T146M VSNL1_ENST00000404666.2_Missense_Mutation_p.T146M|VSNL1_ENST00000295156.4_Missense_Mutation_p.T146M P62760 VISL1_HUMAN visinin-like 1 146 EF-hand 4. calcium ion binding NS(1)|breast(1)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 13 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) GATGGCCTGACGCCTGAGCAG 0.428000 36 49 0 0 1 0 0 TNFRSF11B 4982 broad.mit.edu 37 8 119941085 119941085 + Nonsense_Mutation SNP T T A TCGA-DB-A75K-01A-11D-A32B-08 TCGA-DB-A75K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3788075-215e-4535-b4bd-cc40fdaf52aa fed87034-a0a0-4c98-a951-f1a46983aba5 g.chr8:119941085T>A ENST00000297350.4 - 3 862 c.484A>T c.(484-486)Aaa>Taa p.K162* NM_002546.3 NP_002537.3 O00300 TR11B_HUMAN tumor necrosis factor receptor superfamily, member 11b 162 apoptosis|skeletal system development cytokine activity|receptor activity breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1) 25 all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234) STAD - Stomach adenocarcinoma(47;0.00193) TTTGTGTGTTTTCTACAGGGT 0.413000 61 96 0 0 1 0 0 TLR10 81793 broad.mit.edu 37 4 38776169 38776169 + Missense_Mutation SNP G G A TCGA-DB-A75K-01A-11D-A32B-08 TCGA-DB-A75K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3788075-215e-4535-b4bd-cc40fdaf52aa fed87034-a0a0-4c98-a951-f1a46983aba5 g.chr4:38776169G>A ENST00000308973.4 - 4 1648 c.1043C>T c.(1042-1044)aCg>aTg p.T348M TLR10_ENST00000508334.1_Missense_Mutation_p.T348M|TLR10_ENST00000361424.2_Missense_Mutation_p.T348M|TLR10_ENST00000506111.1_Missense_Mutation_p.T348M NM_001017388.2|NM_001195107.1|NM_030956.3 NP_001017388.1|NP_001182036.1|NP_112218.2 Q9BXR5 TLR10_HUMAN toll-like receptor 10 348 inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway integral to membrane|plasma membrane transmembrane receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2) 25 TTGGAATTTCGTAGGATAATT 0.333000 37 66 0 0 1 0 0 FUBP1 8880 broad.mit.edu 37 1 78429794 78429795 + Frame_Shift_Ins INS - - TCGG TCGA-DB-A75K-01A-11D-A32B-08 TCGA-DB-A75K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3788075-215e-4535-b4bd-cc40fdaf52aa fed87034-a0a0-4c98-a951-f1a46983aba5 g.chr1:78429794_78429795insTCGG ENST00000370767.1 - 12 1080_1081 c.993_994insCCGA c.(991-996)cggtcafs p.S332fs FUBP1_ENST00000370768.2_Frame_Shift_Ins_p.S332fs|FUBP1_ENST00000436586.2_Frame_Shift_Ins_p.S353fs Q96AE4 FUBP1_HUMAN far upstream element (FUSE) binding protein 1 332 KH 3. transcription from RNA polymerase II promoter nucleus protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3) 17 GCATGTTGACATCGGTCTGGAG 0.322 """F, N""" oligodendroglioma 92 73 --- --- --- --- FLNC 2318 broad.mit.edu 37 7 128482744 128482745 + Frame_Shift_Ins INS - - G TCGA-DB-A75K-01A-11D-A32B-08 TCGA-DB-A75K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3788075-215e-4535-b4bd-cc40fdaf52aa fed87034-a0a0-4c98-a951-f1a46983aba5 g.chr7:128482744_128482745insG ENST00000325888.8 + 15 2642_2643 c.2381_2382insG c.(2380-2382)gggfs p.G794fs FLNC_ENST00000346177.6_Frame_Shift_Ins_p.G794fs NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 794 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 TGCAGCGAGGCGGGGCAAGGTG 0.688 2 4 --- --- --- --- NUTM2F 54754 broad.mit.edu 37 9 97080945 97080947 + In_Frame_Del DEL AGA AGA - TCGA-DB-A75K-01A-11D-A32B-08 TCGA-DB-A75K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3788075-215e-4535-b4bd-cc40fdaf52aa fed87034-a0a0-4c98-a951-f1a46983aba5 g.chr9:97080945_97080947delAGA ENST00000253262.4 - 7 2091_2093 c.2071_2073delTCT c.(2071-2073)del p.S691del NUTM2F_ENST00000335456.7_Intron|NUTM2F_ENST00000341207.4_In_Frame_Del_p.S676del NM_017561.1 NP_060031.1 NUT family member 2F p.S557delS(1) TGCTGGCAGGAGAAGGTGATGGG 0.611 3 4 --- --- --- --- NOTCH1 4851 broad.mit.edu 37 9 139413070 139413072 + In_Frame_Del DEL AGA AGA - TCGA-DB-A75K-01A-11D-A32B-08 TCGA-DB-A75K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3788075-215e-4535-b4bd-cc40fdaf52aa fed87034-a0a0-4c98-a951-f1a46983aba5 g.chr9:139413070_139413072delAGA ENST00000277541.6 - 6 1145_1147 c.1070_1072delTCT c.(1069-1074)tac>t p.FY357del NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 357 EGF-like 9; calcium-binding (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity p.F357delF(4) breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) CACTCGCAGTAGAAGGAGGCCAC 0.655 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 9 28 --- --- --- --- EMG1 10436 broad.mit.edu 37 12 7080210 7080211 + RNA INS - - G rs141646579 by1000genomes TCGA-DB-A75K-01A-11D-A32B-08 TCGA-DB-A75K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3788075-215e-4535-b4bd-cc40fdaf52aa fed87034-a0a0-4c98-a951-f1a46983aba5 g.chr12:7080210_7080211insG ENST00000546220.1 + 0 155_156 U47924.28_ENST00000261406.6_lincRNA|U47924.19_ENST00000564245.1_RNA Q92979 NEP1_HUMAN EMG1 N1-specific pseudouridine methyltransferase ribosomal small subunit biogenesis cytoplasm|nucleolus rRNA (pseudouridine) methyltransferase activity|rRNA binding CGGAGGCCGTAGTTTATTGTGG 0.569 5 6 --- --- --- --- RFX4 5992 broad.mit.edu 37 12 107080822 107080823 + Frame_Shift_Ins INS - - A TCGA-DB-A75K-01A-11D-A32B-08 TCGA-DB-A75K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3788075-215e-4535-b4bd-cc40fdaf52aa fed87034-a0a0-4c98-a951-f1a46983aba5 g.chr12:107080822_107080823insA ENST00000392842.1 + 6 952_953 c.538_539insA c.(538-540)attfs p.I180fs RFX4_ENST00000229387.5_Frame_Shift_Ins_p.I86fs|RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000357881.4_Frame_Shift_Ins_p.I189fs NM_213594.2 NP_998759.1 Q33E94 RFX4_HUMAN regulatory factor X, 4 (influences HLA class II expression) 180 transcription, DNA-dependent nucleus DNA binding NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1) 35 ACTGCTGCCAGAATTTCCCAAT 0.500 85 146 --- --- --- --- PCCA 5095 broad.mit.edu 37 13 100992463 100992465 + In_Frame_Del DEL ATT ATT - TCGA-DB-A75K-01A-11D-A32B-08 TCGA-DB-A75K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3788075-215e-4535-b4bd-cc40fdaf52aa fed87034-a0a0-4c98-a951-f1a46983aba5 g.chr13:100992463_100992465delATT ENST00000376285.1 + 18 1631_1633 c.1593_1595delATT c.(1591-1596)tcg>tc p.SL531del PCCA_ENST00000376286.4_In_Frame_Del_p.SL505del|PCCA_ENST00000376279.3_In_Frame_Del_p.SL531del NM_000282.3 NP_000273.2 P05165 PCCA_HUMAN propionyl CoA carboxylase, alpha polypeptide 531 fatty acid beta-oxidation mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2) 26 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Biotin(DB00121) TAGCATCATCATTGTTTGTGGCA 0.330 37 61 --- --- --- --- MESP2 145873 broad.mit.edu 37 15 90320135 90320146 + In_Frame_Del DEL GGGCAGGGGCAG GGGCAGGGGCAG - rs56192595 by1000genomes TCGA-DB-A75K-01A-11D-A32B-08 TCGA-DB-A75K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3788075-215e-4535-b4bd-cc40fdaf52aa fed87034-a0a0-4c98-a951-f1a46983aba5 g.chr15:90320135_90320146delGGGCAGGGGCAG ENST00000341735.3 + 1 547_558 c.547_558delGGGCAGGGGCAG c.(547-558)del p.GQGQ199del MESP2_ENST00000558723.1_Intron|MESP2_ENST00000560219.1_Intron NM_001039958.1 NP_001035047.1 Q0VG99 MESP2_HUMAN mesoderm posterior 2 homolog (mouse) 199 13 X 2 AA tandem repeats of G-Q. Notch signaling pathway nucleus DNA binding p.Q198_G205delQGQGQGQG(1) kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 6 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514) gcaggggcaagggcaggggcaggggcaggggc 0.783 4 6 --- --- --- --- CIC 23152 broad.mit.edu 37 19 42791479 42791480 + Frame_Shift_Ins INS - - C TCGA-DB-A75K-01A-11D-A32B-08 TCGA-DB-A75K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3788075-215e-4535-b4bd-cc40fdaf52aa fed87034-a0a0-4c98-a951-f1a46983aba5 g.chr19:42791479_42791480insC ENST00000572681.2 + 5 3255_3256 c.3187_3188insC c.(3187-3189)catfs p.H1063fs CIC_ENST00000575354.2_Frame_Shift_Ins_p.H154fs|CIC_ENST00000160740.3_Frame_Shift_Ins_p.H154fs Q96RK0 CIC_HUMAN capicua transcriptional repressor 154 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) CAGCTTCCTCTCCATCATGTCT 0.609 """Mis, F, S""" oligodendroglioma 21 20 --- --- --- --- GLTSCR1 29998 broad.mit.edu 37 19 48204938 48204938 + Frame_Shift_Del DEL G G - TCGA-DB-A75K-01A-11D-A32B-08 TCGA-DB-A75K-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3788075-215e-4535-b4bd-cc40fdaf52aa fed87034-a0a0-4c98-a951-f1a46983aba5 g.chr19:48204938delG ENST00000396720.3 + 15 4143 c.3949delG c.(3949-3951)ggfs p.G1317fs CTD-2571L23.8_ENST00000599924.1_lincRNA NM_015711.3 NP_056526.3 Q9NZM4 GSCR1_HUMAN glioma tumor suppressor candidate region gene 1 1317 protein binding breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2) 20 all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086) all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355) GCAGGAAGCCGGGCTCAGCAA 0.721 2 4 --- --- --- ---