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 ADAMTS2 9509 broad.mit.edu 37 5 178552090 178552090 + Missense_Mutation SNP C C T TCGA-SR-A6MX-06A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ec6403c-ac62-411c-83b9-7ec554a54d89 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr5:178552090C>T ENST00000251582.7 - 19 2943 c.2842G>A c.(2842-2844)Gac>Aac p.D948N NM_014244.4 NP_055059.2 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 2 948 TSP type-1 3. collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7) 72 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) GTGGTGTTGTCGTGTAGCGGC 0.692000 4 196 0 0 1 0 0 PAX1 5075 broad.mit.edu 37 20 21689898 21689898 + Silent SNP C C T TCGA-SR-A6MX-06A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ec6403c-ac62-411c-83b9-7ec554a54d89 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr20:21689898C>T ENST00000398485.2 + 4 1152 c.1098C>T c.(1096-1098)ccC>ccT p.P366P PAX1_ENST00000460221.1_3'UTR|PAX1_ENST00000444366.2_Silent_p.P342P NM_001257096.1|NM_006192.4 NP_001244025.1|NP_006183.2 P15863 PAX1_HUMAN paired box 1 366 regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter nucleus DNA binding autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 38 GCTTTCTCCCCGCCTGCGCCT 0.711000 42 62 0 0 1 0 0 UNC79 57578 broad.mit.edu 37 14 94170982 94170982 + Missense_Mutation SNP G G A TCGA-SR-A6MX-06A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ec6403c-ac62-411c-83b9-7ec554a54d89 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr14:94170982G>A ENST00000553484.1 + 50 7897 c.7743G>A c.(7741-7743)atG>atA p.M2581I UNC79_ENST00000256339.4_Missense_Mutation_p.M2382I|UNC79_ENST00000393151.2_Missense_Mutation_p.M2559I|UNC79_ENST00000555664.1_Missense_Mutation_p.M2520I Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 2559 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 TGATACCTATGTGGTTGCCAA 0.438000 7 120 0 0 1 0 0 GLI3 2737 broad.mit.edu 37 7 42004585 42004585 + Silent SNP G G A TCGA-SR-A6MX-06A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ec6403c-ac62-411c-83b9-7ec554a54d89 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr7:42004585G>A ENST00000395925.3 - 15 4170 c.4086C>T c.(4084-4086)agC>agT p.S1362S GLI3_ENST00000479210.1_5'UTR NM_000168.5 NP_000159.3 P10071 GLI3_HUMAN GLI family zinc finger 3 1362 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 112 CTGGCAGGCAGCTCTCTGGCC 0.652000 Pallister-Hall syndrome;Greig Cephalopolysyndactyly 25 25 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9020016 9020016 + Nonsense_Mutation SNP G G T TCGA-SR-A6MX-06A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ec6403c-ac62-411c-83b9-7ec554a54d89 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr19:9020016G>T ENST00000397910.4 - 21 37682 c.37479C>A c.(37477-37479)taC>taA p.Y12493* NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 12495 SEA 3. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGTCCAGGGTGTAGGGGCCCA 0.512000 24 239 1.68575e-08 1.73132e-08 1 1 0 GPR162 27239 broad.mit.edu 37 12 6935934 6935934 + Silent SNP C C T TCGA-SR-A6MX-06A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ec6403c-ac62-411c-83b9-7ec554a54d89 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr12:6935934C>T ENST00000311268.3 + 5 2119 c.1332C>T c.(1330-1332)gcC>gcT p.A444A GPR162_ENST00000428545.2_Silent_p.A160A|GPR162_ENST00000382315.3_Silent_p.A140A NM_019858.1 NP_062832.1 Q16538 GP162_HUMAN G protein-coupled receptor 162 444 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1) 18 TCCTCCCAGCCCAGAGCCGGG 0.612000 7 39 0 0 1 0 0 MPDZ 8777 broad.mit.edu 37 9 13190215 13190215 + Silent SNP T T C TCGA-SR-A6MX-06A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ec6403c-ac62-411c-83b9-7ec554a54d89 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr9:13190215T>C ENST00000319217.7 - 16 2299 c.2052A>G c.(2050-2052)acA>acG p.T684T MPDZ_ENST00000381015.4_Silent_p.T684T|MPDZ_ENST00000447879.1_Silent_p.T684T|MPDZ_ENST00000541718.1_Silent_p.T684T|MPDZ_ENST00000536827.1_Silent_p.T684T|MPDZ_ENST00000381022.2_Silent_p.T684T|MPDZ_ENST00000546205.1_Silent_p.T684T NM_001261406.1 NP_001248335.1 O75970 MPDZ_HUMAN multiple PDZ domain protein 684 interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2) 61 GBM - Glioblastoma multiforme(50;2.03e-06) GAACCTCTTCTGTACTCTGAC 0.488000 4 18 0 0 1 0 0 CYP19A1 1588 broad.mit.edu 37 15 51503017 51503017 + Missense_Mutation SNP A A C TCGA-SR-A6MX-06A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ec6403c-ac62-411c-83b9-7ec554a54d89 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr15:51503017A>C ENST00000396402.1 - 10 1653 c.1500T>G c.(1498-1500)tgT>tgG p.C500W CYP19A1_ENST00000260433.2_Missense_Mutation_p.C500W|RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000559878.1_Missense_Mutation_p.C500W|CYP19A1_ENST00000396404.4_Missense_Mutation_p.C500W NM_000103.3 NP_000094.2 P11511 CP19A_HUMAN cytochrome P450, family 19, subfamily A, polypeptide 1 500 estrogen biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|membrane fraction aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 33 all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128) Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624) AGTGTTCCAGACACCTGTCTG 0.448000 5 181 0 0 1 0 0 LOC220729 220729 broad.mit.edu 37 3 197348646 197348646 + RNA SNP T T C rs138265355 by1000genomes TCGA-SR-A6MX-06A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ec6403c-ac62-411c-83b9-7ec554a54d89 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr3:197348646T>C ENST00000418868.1 - 0 613 NR_003266.2 TGGGCCTGCCTGCCCTTTCCA 0.532000 4 48 0 0 1 0 0 GABRA4 2557 broad.mit.edu 37 4 46967155 46967155 + Missense_Mutation SNP G G T rs41301813 TCGA-SR-A6MX-06A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ec6403c-ac62-411c-83b9-7ec554a54d89 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr4:46967155G>T ENST00000264318.3 - 8 1948 c.966C>A c.(964-966)ttC>ttA p.F322L NM_000809.3|NM_001204266.1|NM_001204267.1 NP_000800.2|NP_001191195.1|NP_001191196.1 P48169 GBRA4_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 4 322 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) AGACAGCTATGAACCAGTCCA 0.433000 32 50 1.22384e-17 1.36782e-17 1 1 0 FAM86JP 100125556 broad.mit.edu 37 3 125647387 125647387 + RNA SNP G G A TCGA-SR-A6MX-06A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ec6403c-ac62-411c-83b9-7ec554a54d89 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr3:125647387G>A ENST00000485843.1 + 0 532 NR_024251.1 ACCAGAAACTGTTTCCCTATG 0.502000 4 85 0 0 1 0 0 TMPRSS11D 9407 broad.mit.edu 37 4 68693212 68693212 + Missense_Mutation SNP G G A TCGA-SR-A6MX-06A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ec6403c-ac62-411c-83b9-7ec554a54d89 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr4:68693212G>A ENST00000283916.6 - 8 817 c.719C>T c.(718-720)gCc>gTc p.A240V TMPRSS11D_ENST00000545541.1_Missense_Mutation_p.A123V|RP11-453E17.1_ENST00000500538.2_RNA NM_004262.2 NP_004253.1 O60235 TM11D_HUMAN transmembrane protease, serine 11D 240 Peptidase S1. proteolysis|respiratory gaseous exchange extracellular region|integral to plasma membrane serine-type endopeptidase activity cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 23 ACCAGACGTGGCAATCCAGTC 0.308000 3 40 0 0 1 0 0 SRRM2 23524 broad.mit.edu 37 16 2818182 2818182 + Silent SNP G G C rs149616150 byFrequency TCGA-SR-A6MX-06A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ec6403c-ac62-411c-83b9-7ec554a54d89 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr16:2818182G>C ENST00000301740.8 + 11 8202 c.7653G>C c.(7651-7653)tcG>tcC p.S2551S SRRM2_ENST00000574593.1_3'UTR NM_016333.3 NP_057417.3 Q9UQ35 SRRM2_HUMAN serine/arginine repetitive matrix 2 2551 Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7) 105 cgtcgtcgtcgtcctcctcct 0.577000 15 11 0 0 1 0 0 CA12 771 broad.mit.edu 37 15 63637696 63637696 + Missense_Mutation SNP C C T TCGA-SR-A6MX-06A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ec6403c-ac62-411c-83b9-7ec554a54d89 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr15:63637696C>T ENST00000178638.3 - 4 849 c.409G>A c.(409-411)Gga>Aga p.G137R CA12_ENST00000422263.2_Missense_Mutation_p.G77R|CA12_ENST00000344366.3_Missense_Mutation_p.G137R NM_001218.3 NP_001209.1 O43570 CAH12_HUMAN carbonic anhydrase XII 137 one-carbon metabolic process integral to membrane carbonate dehydratase activity|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(2) 16 Acetazolamide(DB00819) AAGTGCTGTCCGCTGACGGTG 0.642000 8 17 0 0 1 0 0 PSG8 440533 broad.mit.edu 37 19 43268092 43268092 + Missense_Mutation SNP C C G TCGA-SR-A6MX-06A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ec6403c-ac62-411c-83b9-7ec554a54d89 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr19:43268092C>G ENST00000404209.4 - 2 502 c.406G>C c.(406-408)Gga>Cga p.G136R PSG8_ENST00000306511.4_Missense_Mutation_p.G136R|PSG8_ENST00000401467.2_Missense_Mutation_p.G136R|PSG8_ENST00000406636.3_Intron NM_001130167.1 NP_001123639.1 Q9UQ74 PSG8_HUMAN pregnancy specific beta-1-glycoprotein 8 136 Ig-like V-type. extracellular region breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 40 Prostate(69;0.00899) GTGAAATGTCCAGTTACTCCT 0.488000 106 260 0 0 1 0 0 CHST10 9486 broad.mit.edu 37 2 101010155 101010155 + Missense_Mutation SNP C C T TCGA-SR-A6MX-06A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ec6403c-ac62-411c-83b9-7ec554a54d89 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr2:101010155C>T ENST00000264249.3 - 7 1008 c.623G>A c.(622-624)cGg>cAg p.R208Q CHST10_ENST00000542617.1_Missense_Mutation_p.R256Q|CHST10_ENST00000409701.1_Missense_Mutation_p.R208Q NM_004854.4 NP_004845.1 O43529 CHSTA_HUMAN carbohydrate sulfotransferase 10 208 carbohydrate biosynthetic process|cell adhesion Golgi membrane|integral to membrane|membrane fraction breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1) 16 AGGCTCAAACCGGGGATTGTG 0.408000 27 31 0 0 1 0 0 HABP2 3026 broad.mit.edu 37 10 115340448 115340448 + Missense_Mutation SNP C C G TCGA-SR-A6MX-06A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ec6403c-ac62-411c-83b9-7ec554a54d89 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr10:115340448C>G ENST00000351270.3 + 8 931 c.835C>G c.(835-837)Cag>Gag p.Q279E HABP2_ENST00000542051.1_Missense_Mutation_p.Q253E|HABP2_ENST00000541666.1_Missense_Mutation_p.Q279E NM_004132.3 NP_004123.1 Q14520 HABP2_HUMAN hyaluronan binding protein 2 279 cell adhesion|proteolysis extracellular space glycosaminoglycan binding|serine-type endopeptidase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 23 Colorectal(252;0.0233)|Breast(234;0.0672) Epithelial(162;0.00319)|all cancers(201;0.0112) CTGCTCAGCCCAGGGTAAAGG 0.527000 27 35 0 0 1 0 0 ZKSCAN5 23660 broad.mit.edu 37 7 99129144 99129144 + Missense_Mutation SNP G G A rs4729542 TCGA-SR-A6MX-06A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ec6403c-ac62-411c-83b9-7ec554a54d89 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr7:99129144G>A ENST00000394170.2 + 7 2043 c.1792G>A c.(1792-1794)Gtc>Atc p.V598I ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.V598I|ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.V598I NM_014569.3 NP_055384.1 Q9Y2L8 ZKSC5_HUMAN zinc finger with KRAB and SCAN domains 5 598 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 21 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) GCATCAGCGCGTCCACACAGG 0.517000 13 14 0 0 1 0 0 GAA 2548 broad.mit.edu 37 17 78083827 78083827 + Silent SNP C C T TCGA-SR-A6MX-06A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ec6403c-ac62-411c-83b9-7ec554a54d89 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr17:78083827C>T ENST00000302262.3 + 9 1629 c.1410C>T c.(1408-1410)aaC>aaT p.N470N GAA_ENST00000390015.3_Silent_p.N470N NM_000152.3 NP_000143.2 P10253 LYAG_HUMAN glucosidase, alpha; acid 470 cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis lysosomal membrane carbohydrate binding|maltose alpha-glucosidase activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 21 all_neural(118;0.117) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139) Acarbose(DB00284) TCATCACCAACGAGACCGGCC 0.667000 22 55 0 0 1 0 0 CSTB 1476 broad.mit.edu 37 21 45194196 45194196 + Missense_Mutation SNP C C T rs147307021 TCGA-SR-A6MX-06A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ec6403c-ac62-411c-83b9-7ec554a54d89 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr21:45194196C>T ENST00000291568.5 - 3 359 c.184G>A c.(184-186)Gag>Aag p.E62K NM_000100.3 NP_000091.1 P04080 CYTB_HUMAN cystatin B (stefin B) 62 cytoplasm|nucleolus cysteine-type endopeptidase inhibitor activity|protease binding lung(1)|prostate(1) 2 STAD - Stomach adenocarcinoma(101;0.168) ACGAAGTCCTCGTCGCCGACG 0.547000 18 77 0 0 1 0 0 TRHDE 29953 broad.mit.edu 37 12 73046874 73046874 + Missense_Mutation SNP T T A TCGA-SR-A6MX-06A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ec6403c-ac62-411c-83b9-7ec554a54d89 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr12:73046874T>A ENST00000261180.4 + 17 2883 c.2787T>A c.(2785-2787)aaT>aaA p.N929K NM_013381.2 NP_037513.1 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 929 cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 79 TAGCTCGAAATCCACATGGTC 0.353000 24 50 0 0 1 0 0 SETDB1 9869 broad.mit.edu 37 1 150933428 150933428 + Missense_Mutation SNP C C A TCGA-SR-A6MX-06A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ec6403c-ac62-411c-83b9-7ec554a54d89 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr1:150933428C>A ENST00000271640.5 + 16 3080 c.2890C>A c.(2890-2892)Cct>Act p.P964T SETDB1_ENST00000368969.4_Missense_Mutation_p.P964T NM_001145415.1|NM_012432.3 NP_001138887.1|NP_036564.3 Q15047 SETB1_HUMAN SET domain, bifurcated 1 964 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|Golgi apparatus|nucleus|plasma membrane DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 12 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211) TCCCTCAATCCCTGTAGGTGG 0.547000 4 114 1 1 1 1 0 SETD2 29072 broad.mit.edu 37 3 47103836 47103836 + Splice_Site SNP G G C TCGA-SR-A6MX-06A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ec6403c-ac62-411c-83b9-7ec554a54d89 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr3:47103836G>C ENST00000409792.3 - 14 6152 c.6109_splice c.e14-1 p.T2037_splice SETD2_ENST00000492397.1_5'UTR NM_014159.6 NP_054878.5 Q9BYW2 SETD2_HUMAN SET domain containing 2 2037 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5) 141 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) TCGTTCAGTTGCTAAGGGAAA 0.393000 """N, F, S, Mis""" clear cell renal carcinoma 61 97 0 0 1 0 0 FKBP9 11328 broad.mit.edu 37 7 33020059 33020059 + Missense_Mutation SNP G G C TCGA-SR-A6MX-06A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ec6403c-ac62-411c-83b9-7ec554a54d89 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr7:33020059G>C ENST00000242209.4 + 5 956 c.787G>C c.(787-789)Gag>Cag p.E263Q FKBP9_ENST00000489038.1_3'UTR|FKBP9_ENST00000538336.1_Missense_Mutation_p.E316Q|FKBP9_ENST00000490776.2_Missense_Mutation_p.E31Q|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538443.1_Missense_Mutation_p.E125Q NM_007270.3 NP_009201.2 O95302 FKBP9_HUMAN FK506 binding protein 9, 63 kDa 263 protein folding endoplasmic reticulum|membrane calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1) 39 GBM - Glioblastoma multiforme(11;0.0156) CATTTCCATTGAGAACAAGGT 0.468000 58 80 0 0 1 0 0 SEPT7 989 broad.mit.edu 37 7 35930362 35930362 + Silent SNP T T C TCGA-SR-A6MX-06A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ec6403c-ac62-411c-83b9-7ec554a54d89 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr7:35930362T>C ENST00000494488.2 + 10 915 c.915T>C c.(913-915)taT>taC p.Y305Y SEPT7_ENST00000399034.2_Silent_p.Y320Y|SEPT7_ENST00000435235.1_Silent_p.Y266Y|SEPT7_ENST00000399035.3_Silent_p.Y318Y|SEPT7_ENST00000432293.2_Intron|SEPT7_ENST00000350320.6_Silent_p.Y318Y Q16181 SEPT7_HUMAN septin 7 319 cilium morphogenesis|cytokinesis|mitosis|protein heterooligomerization|regulation of embryonic cell shape cilium axoneme|cleavage furrow|condensed chromosome kinetochore|midbody|nucleus|septin complex|spindle|stress fiber GTP binding|protein binding|structural molecule activity p.Y320Y(3) central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1) 14 CTGTGACTTATAATGGAGTTG 0.323000 3 18 0 0 1 0 0 LRP2 4036 broad.mit.edu 37 2 170055361 170055361 + Missense_Mutation SNP C C T rs142214474 TCGA-SR-A6MX-06A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ec6403c-ac62-411c-83b9-7ec554a54d89 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr2:170055361C>T ENST00000263816.3 - 45 8798 c.8513G>A c.(8512-8514)cGc>cAc p.R2838H NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 2838 LDL-receptor class A 19. hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) CAAATAAACGCGAGGAATACA 0.358000 3 19 0 0 1 0 0 TGDS 23483 broad.mit.edu 37 13 95235377 95235377 + Missense_Mutation SNP C C T TCGA-SR-A6MX-06A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ec6403c-ac62-411c-83b9-7ec554a54d89 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr13:95235377C>T ENST00000261296.5 - 5 547 c.427G>A c.(427-429)Gat>Aat p.D143N TGDS_ENST00000498294.1_5'UTR NM_014305.2 NP_055120.1 O95455 TGDS_HUMAN TDP-glucose 4,6-dehydratase 143 cellular metabolic process coenzyme binding|dTDP-glucose 4,6-dehydratase activity|protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 8 all_neural(89;0.0684)|Medulloblastoma(90;0.163) TATACTTCATCTGTGCTGACA 0.373000 29 56 0 0 1 0 0 FAM86JP 100125556 broad.mit.edu 37 3 125647396 125647396 + RNA SNP T T C TCGA-SR-A6MX-06A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ec6403c-ac62-411c-83b9-7ec554a54d89 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr3:125647396T>C ENST00000485843.1 + 0 541 NR_024251.1 TGTTTCCCTATGAAGAGCACT 0.502000 5 88 0 0 1 0 0 MRVI1 10335 broad.mit.edu 37 11 10647542 10647542 + Missense_Mutation SNP G G A TCGA-SR-A6MX-06A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ec6403c-ac62-411c-83b9-7ec554a54d89 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr11:10647542G>A ENST00000547195.1 - 8 1566 c.1066C>T c.(1066-1068)Cgg>Tgg p.R356W MRVI1_ENST00000558540.1_Missense_Mutation_p.R132W|MRVI1_ENST00000545852.1_Missense_Mutation_p.R132W|MRVI1_ENST00000421747.1_Missense_Mutation_p.R438W|MRVI1_ENST00000552103.1_Missense_Mutation_p.R356W|MRVI1_ENST00000424001.1_Missense_Mutation_p.R132W|MRVI1_ENST00000423302.2_Missense_Mutation_p.R447W|MRVI1_ENST00000541483.1_Intron|MRVI1_ENST00000534266.2_Missense_Mutation_p.R132W|MRVI1_ENST00000436272.1_Missense_Mutation_p.R420W|MRVI1_ENST00000527509.2_Missense_Mutation_p.R356W|MRVI1_ENST00000531107.1_Missense_Mutation_p.R439W NM_001100163.2|NM_001206881.1 NP_001093633.1|NP_001193810.1 Q9Y6F6 MRVI1_HUMAN murine retrovirus integration site 1 homolog 420 platelet activation endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2) 22 all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723) TTCTGCATCCGCACGGGCTGC 0.602000 3 30 0 0 1 0 0 PMF1 11243 broad.mit.edu 37 1 156182938 156182939 + Frame_Shift_Del DEL TT TT - TCGA-SR-A6MX-06A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ec6403c-ac62-411c-83b9-7ec554a54d89 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr1:156182938_156182939delTT ENST00000368277.3 + 1 141_142 c.132_133delTT c.(130-135)acttfs p.TF44fs PMF1_ENST00000565805.1_Frame_Shift_Del_p.TF44fs|PMF1_ENST00000567140.1_Frame_Shift_Del_p.TF44fs|PMF1-BGLAP_ENST00000490491.1_Frame_Shift_Del_p.TF44fs|PMF1_ENST00000466489.1_3'UTR|PMF1_ENST00000368279.3_Frame_Shift_Del_p.TF44fs|PMF1-BGLAP_ENST00000368276.4_Frame_Shift_Del_p.TF44fs|PMF1_ENST00000368273.4_Frame_Shift_Del_p.TF44fs|PMF1-BGLAP_ENST00000320139.5_Frame_Shift_Del_p.TF44fs NM_007221.3 NP_009152.2 polyamine-modulated factor 1 kidney(1)|large_intestine(2)|lung(3) 6 Hepatocellular(266;0.158) TGGTGGACACTTTTCTTCAGAA 0.599 24 50 --- --- --- --- TPTE2P1 646405 broad.mit.edu 37 13 25527490 25527491 + RNA INS - - AAAAAG TCGA-SR-A6MX-06A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ec6403c-ac62-411c-83b9-7ec554a54d89 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chr13:25527490_25527491insAAAAAG ENST00000429698.1 - 0 282 AGGAAGGTTCTAAAAAAAATTT 0.252 4 4 --- --- --- --- NUDT11 55190 broad.mit.edu 37 X 51239296 51239309 + Translation_Start_Site DEL TCCTCGAGGCAGCC TCCTCGAGGCAGCC - rs78182391 TCGA-SR-A6MX-06A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ec6403c-ac62-411c-83b9-7ec554a54d89 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chrX:51239296_51239309delTCCTCGAGGCAGCC ENST00000375992.3 - 0 139_152 NM_018159.3 NP_060629.2 Q96G61 NUD11_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 11 cytoplasm diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding p.?(5) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2) 9 Ovarian(276;0.236) TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC 0.692 HNSCC(48;0.14) 4 7 --- --- --- --- ATRX 546 broad.mit.edu 37 X 76777841 76777841 + Frame_Shift_Del DEL G G - TCGA-SR-A6MX-06A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ec6403c-ac62-411c-83b9-7ec554a54d89 99e20de7-1106-4a42-a936-dfcc7017ed47 g.chrX:76777841delG ENST00000373344.5 - 32 7089 c.6875delC c.(6874-6876)cafs p.P2292fs ATRX_ENST00000395603.3_Frame_Shift_Del_p.P2254fs|ATRX_ENST00000480283.1_5'UTR NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 2292 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) GGTCCCAGTTGGTATGTTGAA 0.383 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 47 25 --- --- --- ---