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 PRICKLE2 166336 broad.mit.edu 37 3 64133074 64133074 + Silent SNP C C T TCGA-DJ-A2Q6-01A-11D-A18F-08 TCGA-DJ-A2Q6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0e7f5fc-f324-4be6-b07e-02006802cd94 31720585-e4b3-43d1-8c8c-0be236e04aeb g.chr3:64133074C>T ENST00000295902.6 - 7 1677 c.1092G>A c.(1090-1092)cgG>cgA p.R364R PRICKLE2_ENST00000564377.1_Silent_p.R420R NM_198859.3 NP_942559.1 Q7Z3G6 PRIC2_HUMAN prickle homolog 2 (Drosophila) 364 cytoplasm|nuclear membrane zinc ion binding breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1) 32 Lung NSC(201;0.136) BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497) CGGCTGACAGCCGGTTAGAAC 0.617000 5 137 0 0 0.021553 0 0 HLA-DQB2 3120 broad.mit.edu 37 6 32725596 32725596 + Silent SNP C C G rs115565146 by1000genomes TCGA-DJ-A2Q6-01A-11D-A18F-08 TCGA-DJ-A2Q6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0e7f5fc-f324-4be6-b07e-02006802cd94 31720585-e4b3-43d1-8c8c-0be236e04aeb g.chr6:32725596C>G ENST00000435145.2 - 4 772 c.711G>C c.(709-711)ctG>ctC p.L237L HLA-DQB2_ENST00000437316.2_Silent_p.L237L|HLA-DQB2_ENST00000411527.1_Intron Q5SR06 Q5SR06_HUMAN major histocompatibility complex, class II, DQ beta 2 216 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response integral to membrane|MHC class II protein complex endometrium(1)|kidney(1)|lung(1)|prostate(2) 5 CGAGGAAGATCAGCCCCAGCA 0.562000 6 18 0 0 0.029380 0 0 CELF2 10659 broad.mit.edu 37 10 11370890 11370890 + Splice_Site SNP T T C TCGA-DJ-A2Q6-01A-11D-A18F-08 TCGA-DJ-A2Q6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0e7f5fc-f324-4be6-b07e-02006802cd94 31720585-e4b3-43d1-8c8c-0be236e04aeb g.chr10:11370890T>C ENST00000379261.4 + 13 1493 c.1399_splice c.e13-1 p.G467_splice CELF2_ENST00000427450.1_Splice_Site_p.G449_splice|CELF2_ENST00000417956.2_Splice_Site_p.G447_splice|CELF2_ENST00000416382.2_Splice_Site_p.G467_splice|CELF2_ENST00000315874.3_Splice_Site_p.G449_splice|CELF2_ENST00000354897.3_Splice_Site_p.G461_splice|CELF2_ENST00000354440.2_Splice_Site_p.G449_splice|CELF2_ENST00000399850.3_Splice_Site_p.G449_splice|CELF2_ENST00000450189.1_Splice_Site_p.G480_splice|CELF2_ENST00000537122.1_Splice_Site_p.G362_splice|CELF2_ENST00000542579.1_Splice_Site_p.G480_splice NM_001025077.2 NP_001020248.1 O95319 CELF2_HUMAN CUGBP, Elav-like family member 2 467 Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 3. mRNA processing|regulation of heart contraction cytoplasm|nucleus nucleotide binding|protein binding|RNA binding breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 16 ATTTTCCAGGTTTTGTTAGCT 0.517000 3 96 0 0 0.009096 0 0 ZNF804A 91752 broad.mit.edu 37 2 185802431 185802431 + Nonsense_Mutation SNP C C T TCGA-DJ-A2Q6-01A-11D-A18F-08 TCGA-DJ-A2Q6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0e7f5fc-f324-4be6-b07e-02006802cd94 31720585-e4b3-43d1-8c8c-0be236e04aeb g.chr2:185802431C>T ENST00000302277.6 + 4 2902 c.2308C>T c.(2308-2310)Cga>Tga p.R770* NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 770 intracellular zinc ion binding p.R770*(1) NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 AAGATTCTATCGAAAACGTAG 0.338000 16 66 0 0 0.038395 0 0 NUTM2F 54754 broad.mit.edu 37 9 97084601 97084601 + Nonsense_Mutation SNP G G A TCGA-DJ-A2Q6-01A-11D-A18F-08 TCGA-DJ-A2Q6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0e7f5fc-f324-4be6-b07e-02006802cd94 31720585-e4b3-43d1-8c8c-0be236e04aeb g.chr9:97084601G>A ENST00000335456.7 - 3 744 c.724C>T c.(724-726)Cga>Tga p.R242* NUTM2F_ENST00000341207.4_Nonsense_Mutation_p.R242*|NUTM2F_ENST00000253262.4_Nonsense_Mutation_p.R242* NUT family member 2F GCCAGGGATCGGAGAACTGGG 0.632000 4 41 0 0 0.009096 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-DJ-A2Q6-01A-11D-A18F-08 TCGA-DJ-A2Q6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0e7f5fc-f324-4be6-b07e-02006802cd94 31720585-e4b3-43d1-8c8c-0be236e04aeb g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 5 86 0 0 0.038147 0 0 ITM2C 81618 broad.mit.edu 37 2 231740375 231740375 + Missense_Mutation SNP A A G TCGA-DJ-A2Q6-01A-11D-A18F-08 TCGA-DJ-A2Q6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0e7f5fc-f324-4be6-b07e-02006802cd94 31720585-e4b3-43d1-8c8c-0be236e04aeb g.chr2:231740375A>G ENST00000326427.6 + 3 428 c.302A>G c.(301-303)gAg>gGg p.E101G ITM2C_ENST00000409704.2_Missense_Mutation_p.E39G|ITM2C_ENST00000335005.6_Missense_Mutation_p.E54G|ITM2C_ENST00000326407.6_Missense_Mutation_p.E101G|ITM2C_ENST00000492029.1_3'UTR NM_030926.4 NP_112188.1 Q9NQX7 ITM2C_HUMAN integral membrane protein 2C 101 negative regulation of neuron projection development|neuron differentiation Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm beta-amyloid binding cervix(2)|lung(1)|ovary(1)|skin(1) 5 Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204) Epithelial(121;8.47e-12)|all cancers(144;3.44e-09)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142) GTGCTGTATGAGGACTCCCTG 0.567000 3 170 0 0 0.009096 0 0 SULF2 55959 broad.mit.edu 37 20 46313295 46313295 + Silent SNP C C T TCGA-DJ-A2Q6-01A-11D-A18F-08 TCGA-DJ-A2Q6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0e7f5fc-f324-4be6-b07e-02006802cd94 31720585-e4b3-43d1-8c8c-0be236e04aeb g.chr20:46313295C>T ENST00000359930.4 - 6 1619 c.768G>A c.(766-768)ccG>ccA p.P256P CTD-2653D5.1_ENST00000526566.2_RNA|SULF2_ENST00000361612.4_Silent_p.P256P|SULF2_ENST00000484875.1_Silent_p.P256P|SULF2_ENST00000467815.1_Silent_p.P256P NM_018837.3 NP_061325.1 Q8IWU5 SULF2_HUMAN sulfatase 2 256 bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 AGTGTTTGTCCGGGTTGGGCG 0.617000 3 34 0 0 0.004672 0 0 OR4D5 219875 broad.mit.edu 37 11 123811251 123811251 + Missense_Mutation SNP G G T rs143337717 TCGA-DJ-A2Q6-01A-11D-A18F-08 TCGA-DJ-A2Q6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0e7f5fc-f324-4be6-b07e-02006802cd94 31720585-e4b3-43d1-8c8c-0be236e04aeb g.chr11:123811251G>T ENST00000307033.2 + 1 1002 c.928G>T c.(928-930)Ggt>Tgt p.G310C NM_001001965.1 NP_001001965.1 Q8NGN0 OR4D5_HUMAN olfactory receptor, family 4, subfamily D, member 5 310 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) GGACCCTATTGGTCCCCTGGA 0.502000 24 43 5.45024e-15 7.54649e-15 0.083992 1 0 AHNAK 79026 broad.mit.edu 37 11 62294421 62294421 + Missense_Mutation SNP T T C TCGA-DJ-A2Q6-01A-11D-A18F-08 TCGA-DJ-A2Q6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0e7f5fc-f324-4be6-b07e-02006802cd94 31720585-e4b3-43d1-8c8c-0be236e04aeb g.chr11:62294421T>C ENST00000378024.4 - 5 7742 c.7468A>G c.(7468-7470)Agg>Ggg p.R2490G AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 2490 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) TTGGGGCCCCTGATGTTCATA 0.478000 4 209 0 0 0.014758 0 0 MEOX1 4222 broad.mit.edu 37 17 41738500 41738500 + Missense_Mutation SNP C C A TCGA-DJ-A2Q6-01A-11D-A18F-08 TCGA-DJ-A2Q6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0e7f5fc-f324-4be6-b07e-02006802cd94 31720585-e4b3-43d1-8c8c-0be236e04aeb g.chr17:41738500C>A ENST00000318579.4 - 1 822 c.403G>T c.(403-405)Ggg>Tgg p.G135W MEOX1_ENST00000549132.1_Silent_p.T105T|MEOX1_ENST00000329168.3_Missense_Mutation_p.G135W|MEOX1_ENST00000393661.2_Missense_Mutation_p.G20W NM_001040002.1|NM_004527.3 NP_001035091.1|NP_004518.1 P50221 MEOX1_HUMAN mesenchyme homeobox 1 135 nucleus sequence-specific DNA binding p.G135W(1) NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4) 8 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.0753) CCAAGCACCCCGTAGTCATCG 0.607000 4 178 0.000602214 0.000802953 0.014758 1 0 DGCR8 54487 broad.mit.edu 37 22 20077288 20077288 + Missense_Mutation SNP T T G TCGA-DJ-A2Q6-01A-11D-A18F-08 TCGA-DJ-A2Q6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0e7f5fc-f324-4be6-b07e-02006802cd94 31720585-e4b3-43d1-8c8c-0be236e04aeb g.chr22:20077288T>G ENST00000351989.3 + 4 1406 c.977T>G c.(976-978)gTg>gGg p.V326G DGCR8_ENST00000407755.1_Missense_Mutation_p.V326G|DGCR8_ENST00000383024.2_Missense_Mutation_p.V326G NM_022720.6 NP_073557.3 Q8WYQ5 DGCR8_HUMAN DGCR8 microprocessor complex subunit 326 Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with NCL.|WW. primary miRNA processing cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm double-stranded RNA binding|metal ion binding|protein binding NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 22 Colorectal(54;0.0993) GAGTCTCGGGTGGTCACCTGG 0.572000 6 97 0 0 0.020292 0 0 GPR179 440435 broad.mit.edu 37 17 36484931 36484931 + Silent SNP T T C TCGA-DJ-A2Q6-01A-11D-A18F-08 TCGA-DJ-A2Q6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0e7f5fc-f324-4be6-b07e-02006802cd94 31720585-e4b3-43d1-8c8c-0be236e04aeb g.chr17:36484931T>C ENST00000342292.4 - 11 4541 c.4521A>G c.(4519-4521)aaA>aaG p.K1507K NM_001004334.2 NP_001004334.2 Q6PRD1 GP179_HUMAN G protein-coupled receptor 179 1507 integral to membrane|plasma membrane G-protein coupled receptor activity breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) TTCTGGAGGCTTTTTCCTTTT 0.483000 3 218 0 0 0.004672 0 0 RGPD8 727851 broad.mit.edu 37 2 113127775 113127775 + Missense_Mutation SNP G G C TCGA-DJ-A2Q6-01A-11D-A18F-08 TCGA-DJ-A2Q6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0e7f5fc-f324-4be6-b07e-02006802cd94 31720585-e4b3-43d1-8c8c-0be236e04aeb g.chr2:113127775G>C ENST00000302558.3 - 23 5469 c.5278C>G c.(5278-5280)Cct>Gct p.P1760A RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A NM_001164463.1 NP_001157935.1 RANBP2-like and GRIP domain containing 8 p.P1760A(12) endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1) 10 GAACGGGAAGGATTTTCTTCC 0.308000 4 68 0 0 0.009096 0 0 MARCH6 10299 broad.mit.edu 37 5 10414577 10414577 + Silent SNP A A G TCGA-DJ-A2Q6-01A-11D-A18F-08 TCGA-DJ-A2Q6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0e7f5fc-f324-4be6-b07e-02006802cd94 31720585-e4b3-43d1-8c8c-0be236e04aeb g.chr5:10414577A>G ENST00000274140.5 + 20 2061 c.1929A>G c.(1927-1929)acA>acG p.T643T MARCH6_ENST00000503788.1_Silent_p.T538T|MARCH6_ENST00000510792.1_Silent_p.T341T|MARCH6_ENST00000449913.2_Silent_p.T595T NM_005885.2 NP_005876.2 O60337 MARH6_HUMAN membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase 643 protein K48-linked ubiquitination integral to endoplasmic reticulum membrane ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3) 54 TGTGTATAACATTACTGATTG 0.348000 4 82 0 0 0.014758 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DJ-A2Q6-01A-11D-A18F-08 TCGA-DJ-A2Q6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0e7f5fc-f324-4be6-b07e-02006802cd94 31720585-e4b3-43d1-8c8c-0be236e04aeb g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 27 45 0 0 0.034045 0 0 CACNB3 784 broad.mit.edu 37 12 49218501 49218501 + Missense_Mutation SNP C C G TCGA-DJ-A2Q6-01A-11D-A18F-08 TCGA-DJ-A2Q6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0e7f5fc-f324-4be6-b07e-02006802cd94 31720585-e4b3-43d1-8c8c-0be236e04aeb g.chr12:49218501C>G ENST00000301050.2 + 5 656 c.457C>G c.(457-459)Cct>Gct p.P153A CACNB3_ENST00000547392.1_Missense_Mutation_p.P153A|CACNB3_ENST00000547230.1_Missense_Mutation_p.P112A|CACNB3_ENST00000540990.1_Missense_Mutation_p.P140A|CACNB3_ENST00000536187.2_Missense_Mutation_p.P152A|CACNB3_ENST00000550168.1_3'UTR NM_000725.3 NP_000716.2 P54284 CACB3_HUMAN calcium channel, voltage-dependent, beta 3 subunit 153 axon guidance|membrane depolarization|synaptic transmission cytosol|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1) 12 Verapamil(DB00661) CCGACGCTCCCCTCCGCCATC 0.547000 3 68 0 0 0.004672 0 0 CYP2C9 1559 broad.mit.edu 37 10 96701709 96701709 + Missense_Mutation SNP T T C rs139656048 TCGA-DJ-A2Q6-01A-11D-A18F-08 TCGA-DJ-A2Q6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0e7f5fc-f324-4be6-b07e-02006802cd94 31720585-e4b3-43d1-8c8c-0be236e04aeb g.chr10:96701709T>C ENST00000260682.6 + 2 275 c.263T>C c.(262-264)aTt>aCt p.I88T CYP2C9_ENST00000461906.1_3'UTR NM_000771.3 NP_000762.2 P11712 CP2C9_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 9 88 exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 Colorectal(252;0.0902) all cancers(201;6.93e-05) Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744) GAAGCCCTGATTGATCTTGGA 0.478000 13 158 0 0 0.024245 0 0 HDAC2 3066 broad.mit.edu 37 6 114292109 114292110 + In_Frame_Ins INS - - CTG TCGA-DJ-A2Q6-01A-11D-A18F-08 TCGA-DJ-A2Q6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0e7f5fc-f324-4be6-b07e-02006802cd94 31720585-e4b3-43d1-8c8c-0be236e04aeb g.chr6:114292109_114292110insCTG ENST00000398283.2 - 1 249_250 c.245_246insCAG c.(244-246)aag>aCAGag p.82_82K>TE RP3-399L15.3_ENST00000436876.2_RNA|RP3-399L15.3_ENST00000520554.1_RNA|RP3-399L15.3_ENST00000519104.1_RNA|RP3-399L15.3_ENST00000449620.2_RNA|HDAC2_ENST00000519065.1_5'UTR|HDAC2_ENST00000368632.2_5'UTR NM_001527.3 NP_001518.3 Q92769 HDAC2_HUMAN histone deacetylase 2 0 Histone deacetylase. blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2) 27 all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24) all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832) Vorinostat(DB02546) GGCTCCTCCTCctgctgctgct 0.688 4 4 --- --- --- ---