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 DNM1P47 100216544 broad.mit.edu 37 15 102296140 102296140 + RNA SNP C C T TCGA-P8-A6RX-01A-11D-A35D-08 TCGA-P8-A6RX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7d3248-95e1-4538-bfb3-f8c30c327fe0 fb464a7f-6991-43d5-b642-def477d6ca52 g.chr15:102296140C>T ENST00000561463.1 + 0 4186 GTCCAACCTGCACTCGCGTGG 0.602000 3 13 0 0 1 0 0 USP15 9958 broad.mit.edu 37 12 62785104 62785104 + Nonsense_Mutation SNP C C T rs149953550 TCGA-P8-A6RX-01A-11D-A35D-08 TCGA-P8-A6RX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7d3248-95e1-4538-bfb3-f8c30c327fe0 fb464a7f-6991-43d5-b642-def477d6ca52 g.chr12:62785104C>T ENST00000280377.5 + 16 2186 c.2128C>T c.(2128-2130)Cga>Tga p.R710* USP15_ENST00000393654.3_Nonsense_Mutation_p.R685*|USP15_ENST00000353364.3_Nonsense_Mutation_p.R681* NM_001252078.1 NP_001239007.1 Q9Y4E8 UBP15_HUMAN ubiquitin specific peptidase 15 710 protein deubiquitination|ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 37 GBM - Glioblastoma multiforme(1;0.000276) GBM - Glioblastoma multiforme(28;0.0622) ACACAAAAAACGATTGTTTAC 0.373000 20 32 0 0 1 0 0 CUL1 8454 broad.mit.edu 37 7 148427298 148427298 + Missense_Mutation SNP C C G TCGA-P8-A6RX-01A-11D-A35D-08 TCGA-P8-A6RX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7d3248-95e1-4538-bfb3-f8c30c327fe0 fb464a7f-6991-43d5-b642-def477d6ca52 g.chr7:148427298C>G ENST00000325222.4 + 2 363 c.84C>G c.(82-84)atC>atG p.I28M CUL1_ENST00000602748.1_Missense_Mutation_p.I28M|CUL1_ENST00000409469.1_Missense_Mutation_p.I28M NM_003592.2 NP_003583.2 Q13616 CUL1_HUMAN cullin 1 28 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process cytosol|nucleoplasm|SCF ubiquitin ligase complex ubiquitin protein ligase binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 40 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00291) GAGCCGGCATCCAGCAGGTGT 0.547000 6 90 0 0 1 0 0 SPATA31D1 389763 broad.mit.edu 37 9 84608005 84608005 + Nonsense_Mutation SNP C C T TCGA-P8-A6RX-01A-11D-A35D-08 TCGA-P8-A6RX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7d3248-95e1-4538-bfb3-f8c30c327fe0 fb464a7f-6991-43d5-b642-def477d6ca52 g.chr9:84608005C>T ENST00000344803.2 + 4 2667 c.2620C>T c.(2620-2622)Cga>Tga p.R874* NM_001001670.2 NP_001001670.1 SPATA31 subfamily D, member 1 AATTAAACATCGAAATCTGGT 0.438000 11 40 0 0 1 0 0 IGHA2 3494 broad.mit.edu 37 14 106054006 106054006 + RNA SNP G G A TCGA-P8-A6RX-01A-11D-A35D-08 TCGA-P8-A6RX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7d3248-95e1-4538-bfb3-f8c30c327fe0 fb464a7f-6991-43d5-b642-def477d6ca52 g.chr14:106054006G>A ENST00000390539.2 - 0 512 CACTGGACACGCTGTAGCAGC 0.622000 6 20 0 0 1 0 0 FRG1BP 284802 broad.mit.edu 37 20 29625934 29625934 + Missense_Mutation SNP C C T TCGA-P8-A6RX-01A-11D-A35D-08 TCGA-P8-A6RX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7d3248-95e1-4538-bfb3-f8c30c327fe0 fb464a7f-6991-43d5-b642-def477d6ca52 g.chr20:29625934C>T ENST00000278882.3 + 5 558 c.178C>T c.(178-180)Cat>Tat p.H60Y FRG1B_ENST00000439954.2_Missense_Mutation_p.H65Y|FRG1B_ENST00000358464.4_Missense_Mutation_p.H60Y endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ACTTGTTGGGCATTCAGATGC 0.338000 5 62 0 0 1 0 0 RAB3GAP2 25782 broad.mit.edu 37 1 220346011 220346011 + Missense_Mutation SNP T T A TCGA-P8-A6RX-01A-11D-A35D-08 TCGA-P8-A6RX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7d3248-95e1-4538-bfb3-f8c30c327fe0 fb464a7f-6991-43d5-b642-def477d6ca52 g.chr1:220346011T>A ENST00000358951.2 - 22 2500 c.2384A>T c.(2383-2385)cAt>cTt p.H795L NM_012414.3 NP_036546.2 Q9H2M9 RBGPR_HUMAN RAB3 GTPase activating protein subunit 2 (non-catalytic) 795 intracellular protein transport cytoplasm|soluble fraction GTPase activator activity|protein heterodimerization activity breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1) 39 GBM - Glioblastoma multiforme(131;0.0443) CAGCATGGTATGAAGACAGCA 0.383000 5 30 0 0 1 0 0 APBA1 320 broad.mit.edu 37 9 72056012 72056012 + Missense_Mutation SNP C C T TCGA-P8-A6RX-01A-11D-A35D-08 TCGA-P8-A6RX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7d3248-95e1-4538-bfb3-f8c30c327fe0 fb464a7f-6991-43d5-b642-def477d6ca52 g.chr9:72056012C>T ENST00000265381.4 - 11 2423 c.2201G>A c.(2200-2202)cGa>cAa p.R734Q NM_001163.3 NP_001154.2 Q02410 APBA1_HUMAN amyloid beta (A4) precursor protein-binding, family A, member 1 734 PDZ 1. axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission synaptic vesicle endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3) 37 CAGCTTGACTCGGGACTGATT 0.473000 23 43 0 0 1 0 0 PSG2 5670 broad.mit.edu 37 19 43575927 43575927 + Missense_Mutation SNP C C T TCGA-P8-A6RX-01A-11D-A35D-08 TCGA-P8-A6RX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7d3248-95e1-4538-bfb3-f8c30c327fe0 fb464a7f-6991-43d5-b642-def477d6ca52 g.chr19:43575927C>T ENST00000406487.1 - 4 987 c.889G>A c.(889-891)Ggg>Agg p.G297R NM_031246.3 NP_112536.2 P11465 PSG2_HUMAN pregnancy specific beta-1-glycoprotein 2 297 Ig-like C2-type 2. cell migration|female pregnancy extracellular region central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2) 49 Prostate(69;0.00682) ACATAGAGCCCGCTATGCTTT 0.468000 4 203 0 0 1 0 0 KDM6B 23135 broad.mit.edu 37 17 7752181 7752181 + Missense_Mutation SNP G G A TCGA-P8-A6RX-01A-11D-A35D-08 TCGA-P8-A6RX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7d3248-95e1-4538-bfb3-f8c30c327fe0 fb464a7f-6991-43d5-b642-def477d6ca52 g.chr17:7752181G>A ENST00000254846.5 + 11 2964 c.2575G>A c.(2575-2577)Ggc>Agc p.G859S KDM6B_ENST00000448097.2_Missense_Mutation_p.G859S NM_001080424.1 NP_001073893.1 O15054 KDM6B_HUMAN lysine (K)-specific demethylase 6B 859 Pro-rich. inflammatory response nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5) 37 TAGCGCCCAGGGCTCCCCACA 0.721000 20 38 0 0 1 0 0 CYP11B2 1585 broad.mit.edu 37 8 143994109 143994109 + Missense_Mutation SNP C C T TCGA-P8-A6RX-01A-11D-A35D-08 TCGA-P8-A6RX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7d3248-95e1-4538-bfb3-f8c30c327fe0 fb464a7f-6991-43d5-b642-def477d6ca52 g.chr8:143994109C>T ENST00000323110.2 - 8 1237 c.1235G>A c.(1234-1236)cGc>cAc p.R412H NM_000498.3 NP_000489.3 P19099 C11B2_HUMAN cytochrome P450, family 11, subfamily B, polypeptide 2 412 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3) 39 all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Candesartan(DB00796)|Metyrapone(DB01011) GGCGGCATTGCGACCCAGCGA 0.602000 Familial Hyperaldosteronism type I 3 51 0 0 1 0 0 CD5L 922 broad.mit.edu 37 1 157805895 157805895 + Missense_Mutation SNP G G A rs145458344 TCGA-P8-A6RX-01A-11D-A35D-08 TCGA-P8-A6RX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7d3248-95e1-4538-bfb3-f8c30c327fe0 fb464a7f-6991-43d5-b642-def477d6ca52 g.chr1:157805895G>A ENST00000368174.4 - 3 202 c.106C>T c.(106-108)Cgg>Tgg p.R36W CD5L_ENST00000484609.1_5'UTR NM_005894.2 NP_005885.1 O43866 CD5L_HUMAN CD5 molecule-like 36 SRCR 1. apoptosis|cellular defense response extracellular space|membrane scavenger receptor activity p.R36W(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 52 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) ACCTCCACCCGCCCTTCACAG 0.632000 25 47 0 0 1 0 0 CNTN1 1272 broad.mit.edu 37 12 41333285 41333285 + Missense_Mutation SNP C C A TCGA-P8-A6RX-01A-11D-A35D-08 TCGA-P8-A6RX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7d3248-95e1-4538-bfb3-f8c30c327fe0 fb464a7f-6991-43d5-b642-def477d6ca52 g.chr12:41333285C>A ENST00000551295.2 + 12 1494 c.1377C>A c.(1375-1377)agC>agA p.S459R CNTN1_ENST00000347616.1_Missense_Mutation_p.S459R|CNTN1_ENST00000360099.3_Missense_Mutation_p.S459R|CNTN1_ENST00000547849.1_Missense_Mutation_p.S459R|CNTN1_ENST00000547702.1_Missense_Mutation_p.S459R|CNTN1_ENST00000348761.2_Missense_Mutation_p.S448R NM_001843.3 NP_001834.2 Q12860 CNTN1_HUMAN contactin 1 459 Ig-like C2-type 5. axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 90 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) TCAATAGCAGCAGGTCAGTGC 0.353000 11 12 2.80697e-09 2.89203e-09 1 1 0 CRHR1 1394 broad.mit.edu 37 17 43912060 43912060 + Missense_Mutation SNP G G A TCGA-P8-A6RX-01A-11D-A35D-08 TCGA-P8-A6RX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7d3248-95e1-4538-bfb3-f8c30c327fe0 fb464a7f-6991-43d5-b642-def477d6ca52 g.chr17:43912060G>A ENST00000314537.5 + 13 1403 c.1178G>A c.(1177-1179)cGt>cAt p.R393H CRHR1_ENST00000293493.7_Missense_Mutation_p.R218H|CRHR1_ENST00000577353.1_Missense_Mutation_p.R379H|CRHR1_ENST00000398285.3_Missense_Mutation_p.R422H|CRHR1_ENST00000352855.5_Missense_Mutation_p.R353H|CRHR1_ENST00000339069.5_Missense_Mutation_p.V247M NM_001145147.1|NM_001145148.1|NM_004382.4 NP_001138619.1|NP_001138620.1|NP_004373.2 P34998 CRFR1_HUMAN corticotropin releasing hormone receptor 1 422 female pregnancy|immune response|parturition integral to plasma membrane corticotrophin-releasing factor receptor activity|protein binding NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1) 24 Colorectal(2;0.0416) BRCA - Breast invasive adenocarcinoma(366;0.161) CGAGTGGCCCGTGCCATGTCC 0.627000 16 36 0 0 1 0 0 TPX2 22974 broad.mit.edu 37 20 30366768 30366768 + Missense_Mutation SNP G G T TCGA-P8-A6RX-01A-11D-A35D-08 TCGA-P8-A6RX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7d3248-95e1-4538-bfb3-f8c30c327fe0 fb464a7f-6991-43d5-b642-def477d6ca52 g.chr20:30366768G>T ENST00000340513.4 + 10 1563 c.1035G>T c.(1033-1035)agG>agT p.R345S TPX2_ENST00000300403.6_Missense_Mutation_p.R345S Q9ULW0 TPX2_HUMAN TPX2, microtubule-associated 345 activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization cytoplasm|microtubule|nucleus|spindle pole ATP binding|GTP binding|protein kinase binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656) ATCATTTGAGGAGCAAGAAGG 0.398000 9 56 0.335167 0.335167 1 1 0 ABCA12 26154 broad.mit.edu 37 2 215847076 215847076 + Missense_Mutation SNP G G A TCGA-P8-A6RX-01A-11D-A35D-08 TCGA-P8-A6RX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7d3248-95e1-4538-bfb3-f8c30c327fe0 fb464a7f-6991-43d5-b642-def477d6ca52 g.chr2:215847076G>A ENST00000272895.7 - 30 4633 c.4414C>T c.(4414-4416)Cgt>Tgt p.R1472C ABCA12_ENST00000389661.4_Missense_Mutation_p.R1154C NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 1472 ABC transporter 1. cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) CTCTTATGACGATGGCTATAT 0.343000 23 41 0 0 1 0 0 FRG1BP 284802 broad.mit.edu 37 20 29633900 29633900 + Missense_Mutation SNP A A G rs60081496 by1000genomes TCGA-P8-A6RX-01A-11D-A35D-08 TCGA-P8-A6RX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7d3248-95e1-4538-bfb3-f8c30c327fe0 fb464a7f-6991-43d5-b642-def477d6ca52 g.chr20:29633900A>G ENST00000278882.3 + 9 919 c.539A>G c.(538-540)gAa>gGa p.E180G FRG1B_ENST00000358464.4_Missense_Mutation_p.E180G p.E180G(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TAAACAAGAGAACCAAATTGA 0.264000 4 79 0 0 1 0 0 SDC2 6383 broad.mit.edu 37 8 97621721 97621721 + Missense_Mutation SNP G G T TCGA-P8-A6RX-01A-11D-A35D-08 TCGA-P8-A6RX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7d3248-95e1-4538-bfb3-f8c30c327fe0 fb464a7f-6991-43d5-b642-def477d6ca52 g.chr8:97621721G>T ENST00000302190.4 + 5 1472 c.551G>T c.(550-552)cGc>cTc p.R184L SDC2_ENST00000522911.1_Missense_Mutation_p.R155L|SDC2_ENST00000518385.1_Missense_Mutation_p.R148L|SDC2_ENST00000519914.1_Missense_Mutation_p.R155L NM_002998.3 NP_002989.2 P34741 SDC2_HUMAN syndecan 2 184 integral to plasma membrane cytoskeletal protein binding|PDZ domain binding breast(1)|cervix(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|stomach(2) 16 Breast(36;3.41e-05) Sargramostim(DB00020) CTTGGAGAACGCAAACCATCC 0.413000 31 41 2.08457e-15 2.21485e-15 1 1 0 HS6ST1 9394 broad.mit.edu 37 2 129026419 129026419 + Nonsense_Mutation SNP G G A rs139541363 by1000genomes TCGA-P8-A6RX-01A-11D-A35D-08 TCGA-P8-A6RX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7d3248-95e1-4538-bfb3-f8c30c327fe0 fb464a7f-6991-43d5-b642-def477d6ca52 g.chr2:129026419G>A ENST00000259241.6 - 2 566 c.553C>T c.(553-555)Cga>Tga p.R185* NM_004807.2 NP_004798.3 O60243 H6ST1_HUMAN heparan sulfate 6-O-sulfotransferase 1 185 3'-phosphate binding (Potential). heparan sulfate proteoglycan biosynthetic process, enzymatic modification integral to plasma membrane sulfotransferase activity p.R185*(2) endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1) 15 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.117) ACGGGGTCTCGTAGCAGGGTG 0.627000 3 40 0 0 1 0 0 TSHZ1 10194 broad.mit.edu 37 18 72998961 72998961 + Nonsense_Mutation SNP C C G TCGA-P8-A6RX-01A-11D-A35D-08 TCGA-P8-A6RX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7d3248-95e1-4538-bfb3-f8c30c327fe0 fb464a7f-6991-43d5-b642-def477d6ca52 g.chr18:72998961C>G ENST00000322038.5 + 2 2048 c.1464C>G c.(1462-1464)taC>taG p.Y488* TSHZ1_ENST00000580243.1_Nonsense_Mutation_p.Y533* NM_005786.5 NP_005777.3 Q6ZSZ6 TSH1_HUMAN teashirt zinc finger homeobox 1 533 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2) 42 Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211) Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246) GCACCCTGTACCCGTACCTGC 0.587000 29 54 0 0 1 0 0 TEX14 56155 broad.mit.edu 37 17 56699053 56699053 + Missense_Mutation SNP C C T TCGA-P8-A6RX-01A-11D-A35D-08 TCGA-P8-A6RX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7d3248-95e1-4538-bfb3-f8c30c327fe0 fb464a7f-6991-43d5-b642-def477d6ca52 g.chr17:56699053C>T ENST00000389934.3 - 5 629 c.512G>A c.(511-513)cGg>cAg p.R171Q TEX14_ENST00000240361.8_Missense_Mutation_p.R171Q|TEX14_ENST00000349033.5_Missense_Mutation_p.R171Q NM_001201457.1|NM_198393.3 NP_001188386.1|NP_938207.2 Q8IWB6 TEX14_HUMAN testis expressed 14 171 cytoplasm ATP binding|protein kinase activity breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 81 Medulloblastoma(34;0.127)|all_neural(34;0.237) GTAGACAAGCCGCTGCGGGGA 0.587000 12 28 0 0 1 0 0 OGT 8473 broad.mit.edu 37 X 70767856 70767856 + Missense_Mutation SNP A A G TCGA-P8-A6RX-01A-11D-A35D-08 TCGA-P8-A6RX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7d3248-95e1-4538-bfb3-f8c30c327fe0 fb464a7f-6991-43d5-b642-def477d6ca52 g.chrX:70767856A>G ENST00000373719.3 + 5 848 c.631A>G c.(631-633)Att>Gtt p.I211V OGT_ENST00000373701.3_Missense_Mutation_p.I201V NM_181672.2|NM_181673.2 NP_858058.1|NP_858059.1 O15294 OGT1_HUMAN O-linked N-acetylglucosamine (GlcNAc) transferase 211 cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction cytosol|MLL5-L complex enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Renal(35;0.156) TTGGCTTGCAATTCATCACTT 0.353000 47 17 0 0 1 0 0 PRB2 653247 broad.mit.edu 37 12 11546415 11546415 + Silent SNP T T C TCGA-P8-A6RX-01A-11D-A35D-08 TCGA-P8-A6RX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7d3248-95e1-4538-bfb3-f8c30c327fe0 fb464a7f-6991-43d5-b642-def477d6ca52 g.chr12:11546415T>C ENST00000389362.4 - 3 632 c.597A>G c.(595-597)ggA>ggG p.G199G PRB1_ENST00000546254.1_Intron NM_006248.3 NP_006239.3 proline-rich protein BstNI subfamily 2 NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1) 37 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) CTTGTGGCTTTCCTGGAGGAG 0.597000 54 120 0 0 1 0 0 MYOM3 127294 broad.mit.edu 37 1 24392434 24392434 + Missense_Mutation SNP G G A TCGA-P8-A6RX-01A-11D-A35D-08 TCGA-P8-A6RX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7d3248-95e1-4538-bfb3-f8c30c327fe0 fb464a7f-6991-43d5-b642-def477d6ca52 g.chr1:24392434G>A ENST00000330966.7 - 29 3652 c.3490C>T c.(3490-3492)Cca>Tca p.P1164S RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000329601.7_Missense_Mutation_p.P1163S|MYOM3_ENST00000338909.5_Missense_Mutation_p.P54S|MYOM3_ENST00000374434.3_Missense_Mutation_p.P1161S Q5VTT5 MYOM3_HUMAN myomesin 3 1161 Ig-like C2-type 3. NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 68 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) TGACCATCTGGCATCTCTGCC 0.542000 37 98 0 0 1 0 0 BMP1 649 broad.mit.edu 37 8 22067192 22067192 + Missense_Mutation SNP G G A TCGA-P8-A6RX-01A-11D-A35D-08 TCGA-P8-A6RX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7d3248-95e1-4538-bfb3-f8c30c327fe0 fb464a7f-6991-43d5-b642-def477d6ca52 g.chr8:22067192G>A ENST00000306385.5 + 19 3480 c.2810G>A c.(2809-2811)cGc>cAc p.R937H BMP1_ENST00000354870.5_3'UTR NM_006129.4 NP_006120.1 P13497 BMP1_HUMAN bone morphogenetic protein 1 937 CUB 5. cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis extracellular space calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3) 30 Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11) AGGCTGGGGCGCTACTGTGGC 0.657000 40 53 0 0 1 0 0 ENC1 8507 broad.mit.edu 37 5 73931637 73931637 + Missense_Mutation SNP C C T rs61758147 TCGA-P8-A6RX-01A-11D-A35D-08 TCGA-P8-A6RX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7d3248-95e1-4538-bfb3-f8c30c327fe0 fb464a7f-6991-43d5-b642-def477d6ca52 g.chr5:73931637C>T ENST00000302351.4 - 2 1804 c.674G>A c.(673-675)cGc>cAc p.R225H ENC1_ENST00000510316.1_Missense_Mutation_p.R152H|ENC1_ENST00000537006.1_Missense_Mutation_p.R225H NM_003633.3 NP_003624.1 O14682 ENC1_HUMAN ectodermal-neural cortex 1 (with BTB domain) 225 nervous system development cytoplasm|cytoskeleton|nuclear matrix actin binding p.R225H(1) breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 20 all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798) OV - Ovarian serous cystadenocarcinoma(47;1.45e-59) GTAGCAATAGCGCTTCTTCAG 0.493000 13 40 0 0 1 0 0 PSAT1 29968 broad.mit.edu 37 9 80923397 80923397 + Missense_Mutation SNP G G A TCGA-P8-A6RX-01A-11D-A35D-08 TCGA-P8-A6RX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7d3248-95e1-4538-bfb3-f8c30c327fe0 fb464a7f-6991-43d5-b642-def477d6ca52 g.chr9:80923397G>A ENST00000376588.3 + 6 706 c.638G>A c.(637-639)cGt>cAt p.R213H PSAT1_ENST00000347159.2_Missense_Mutation_p.R213H NM_058179.2 NP_478059.1 Q9Y617 SERC_HUMAN phosphoserine aminotransferase 1 213 L-serine biosynthetic process|pyridoxine biosynthetic process O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1) 20 L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165) GTGATTGTCCGTGATGACCTG 0.522000 21 40 0 0 1 0 0 RP11-649A16.1 0 broad.mit.edu 37 3 146995077 146995077 + RNA DEL A A - TCGA-P8-A6RX-01A-11D-A35D-08 TCGA-P8-A6RX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7d3248-95e1-4538-bfb3-f8c30c327fe0 fb464a7f-6991-43d5-b642-def477d6ca52 g.chr3:146995077delA ENST00000473299.1 - 0 132 TCTGGACTGtaaaaaaaaaaa 0.294 3 3 --- --- --- --- RP5-921G16.1 0 broad.mit.edu 37 7 123757438 123757438 + RNA DEL T T - TCGA-P8-A6RX-01A-11D-A35D-08 TCGA-P8-A6RX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7d3248-95e1-4538-bfb3-f8c30c327fe0 fb464a7f-6991-43d5-b642-def477d6ca52 g.chr7:123757438delT ENST00000484322.1 + 0 168 ccaataattattttagagtga 0.502 2 4 --- --- --- --- AP003900.6 0 broad.mit.edu 37 21 11180761 11180762 + RNA INS - - T rs150288525 TCGA-P8-A6RX-01A-11D-A35D-08 TCGA-P8-A6RX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7d3248-95e1-4538-bfb3-f8c30c327fe0 fb464a7f-6991-43d5-b642-def477d6ca52 g.chr21:11180761_11180762insT ENST00000603265.1 + 0 231 aaACTAACTTCTTTTTTTTTTT 0.347 5 7 --- --- --- --- AMMECR1 9949 broad.mit.edu 37 X 109561207 109561209 + In_Frame_Del DEL GGA GGA - TCGA-P8-A6RX-01A-11D-A35D-08 TCGA-P8-A6RX-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c7d3248-95e1-4538-bfb3-f8c30c327fe0 fb464a7f-6991-43d5-b642-def477d6ca52 g.chrX:109561207_109561209delGGA ENST00000262844.5 - 1 258_260 c.91_93delTCC c.(91-93)del p.S31del AMMECR1_ENST00000372057.1_Intron|AMMECR1_ENST00000372059.2_In_Frame_Del_p.S31del NM_015365.2 NP_056180.1 Q9Y4X0 AMER1_HUMAN Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1 31 Gly/Ser-rich. large_intestine(1)|lung(4)|ovary(1)|stomach(1) 7 CGCTGCAGTGGGAGGAGGAGGAG 0.680 3 3 --- --- --- ---