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 UBQLN2 29978 broad.mit.edu 37 X 56592023 56592023 + Missense_Mutation SNP C C T TCGA-E8-A415-01A-11D-A23M-08 TCGA-E8-A415-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9bfce78-5a18-4eb8-a3d7-d50482815623 ae6a3edd-10a4-4e72-98e3-eb8f21820e0c g.chrX:56592023C>T uc004dus.3 + 0 1998 c.1717C>T c.(1717-1719)Cca>Tca p.P573S UBQLN2_uc011moq.1_Missense_Mutation_p.P461S NM_013444 NP_038472 Q9UHD9 UBQL2_HUMAN Homo sapiens ubiquilin 2 (UBQLN2), mRNA. 573 cytoplasm|nucleus|plasma membrane binding breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1) 21 AGCAAATGCTCCACAGCTGCC 0.517000 12 44 0 0 1 0 0 NLRC4 58484 broad.mit.edu 37 2 32476199 32476199 + Missense_Mutation SNP A A G TCGA-E8-A415-01A-11D-A23M-08 TCGA-E8-A415-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9bfce78-5a18-4eb8-a3d7-d50482815623 ae6a3edd-10a4-4e72-98e3-eb8f21820e0c g.chr2:32476199A>G uc002roi.3 - 3 995 c.734T>C c.(733-735)tTc>tCc p.F245S NLRC4_uc021vfq.1_Missense_Mutation_p.F245S|NLRC4_uc002roj.2_Missense_Mutation_p.F245S|NLRC4_uc010ezt.2_Intron NM_001199138 NP_001186067 Q9NPP4 NLRC4_HUMAN Homo sapiens NLR family, CARD domain containing 4 (NLRC4), transcript variant 2, mRNA. 245 NACHT. activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis cytoplasm ATP binding|magnesium ion binding|protein homodimerization activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2) 16 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) ATCAAGAAGGAAAAGAACCCT 0.483000 16 111 0 0 1 0 0 ARHGEF15 22899 broad.mit.edu 37 17 8216353 8216353 + Missense_Mutation SNP C C T TCGA-E8-A415-01A-11D-A23M-08 TCGA-E8-A415-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9bfce78-5a18-4eb8-a3d7-d50482815623 ae6a3edd-10a4-4e72-98e3-eb8f21820e0c g.chr17:8216353C>T uc002glc.3 + 2 870 c.715C>T c.(715-717)Cgt>Tgt p.R239C ARHGEF15_uc002glb.2_3'UTR|ARHGEF15_uc002gld.3_Missense_Mutation_p.R239C|ARHGEF15_uc010vuw.2_Intron NM_173728 NP_776089 O94989 ARHGF_HUMAN Homo sapiens Rho guanine nucleotide exchange factor (GEF) 15 (ARHGEF15), transcript variant 1, mRNA. 239 negative regulation of synapse maturation|regulation of Rho protein signal transduction dendrite|intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity p.R239C(2) breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1) 37 CAGGGTCCCCCGTCGGGCCTC 0.706000 10 147 0 0 1 0 0 ZNF169 169841 broad.mit.edu 37 9 97062729 97062729 + Nonsense_Mutation SNP C C T rs145151490 by1000genomes TCGA-E8-A415-01A-11D-A23M-08 TCGA-E8-A415-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9bfce78-5a18-4eb8-a3d7-d50482815623 ae6a3edd-10a4-4e72-98e3-eb8f21820e0c g.chr9:97062729C>T uc004aum.1 + 4 994 c.889C>T c.(889-891)Cga>Tga p.R297* ZNF169_uc022bki.1_Nonsense_Mutation_p.R298* NM_194320 NP_919301 Q14929 ZN169_HUMAN Homo sapiens zinc finger protein 169 (ZNF169), mRNA. 297 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 24 Acute lymphoblastic leukemia(62;0.136) GGAATGTGGGCGACACTTCAG 0.562000 23 79 0 0 1 0 0 NPSR1 387129 broad.mit.edu 37 7 34698077 34698077 + Missense_Mutation SNP C C T rs149663215 byFrequency TCGA-E8-A415-01A-11D-A23M-08 TCGA-E8-A415-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9bfce78-5a18-4eb8-a3d7-d50482815623 ae6a3edd-10a4-4e72-98e3-eb8f21820e0c g.chr7:34698077C>T uc003teh.1 + 0 181 c.53C>T c.(52-54)aCg>aTg p.T18M NPSR1-AS1_uc010kwo.2_Intron|NPSR1-AS1_uc010kwp.2_Intron|NPSR1-AS1_uc003tdz.3_Intron|NPSR1-AS1_uc010kwq.2_Intron|NPSR1-AS1_uc003teb.1_Intron|NPSR1-AS1_uc011kaq.1_Intron|NPSR1_uc003teg.1_Missense_Mutation_p.T18M|NPSR1_uc010kwt.1_5'UTR|NPSR1_uc010kwu.1_5'UTR|NPSR1_uc010kwv.1_Missense_Mutation_p.T18M|NPSR1_uc003tei.1_Missense_Mutation_p.T18M|NPSR1_uc010kww.1_Missense_Mutation_p.T18M|NPSR1_uc011kar.1_Missense_Mutation_p.T18M NM_207173 NP_997056 Q6W5P4 NPSR1_HUMAN Homo sapiens neuropeptide S receptor 1 (NPSR1), transcript variant 2, mRNA. 18 cytoplasm|integral to membrane|plasma membrane vasopressin receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7) 31 Halothane(DB01159) ACCGGGCAGACGCTGGATTCT 0.542000 18 50 0 0 1 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144854644 144854644 + Missense_Mutation SNP C C T TCGA-E8-A415-01A-11D-A23M-08 TCGA-E8-A415-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9bfce78-5a18-4eb8-a3d7-d50482815623 ae6a3edd-10a4-4e72-98e3-eb8f21820e0c g.chr1:144854644C>T uc021ouh.1 - 41 7128 c.6826G>A c.(6826-6828)Gaa>Aaa p.E2276K NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Missense_Mutation_p.E2276K|PDE4DIP_uc001elx.4_Missense_Mutation_p.E2170K|PDE4DIP_uc001elv.4_Missense_Mutation_p.E1283K NM_001198834 NP_001185763 Q5VU43 MYOME_HUMAN Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA. 2276 cellular protein complex assembly Golgi apparatus|centrosome|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) AGTTCCCTTTCTGTTGATTCT 0.478000 T PDGFRB MPD 23 152 0 0 1 0 0 ABLIM3 22885 broad.mit.edu 37 5 148624541 148624541 + Silent SNP G G A TCGA-E8-A415-01A-11D-A23M-08 TCGA-E8-A415-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9bfce78-5a18-4eb8-a3d7-d50482815623 ae6a3edd-10a4-4e72-98e3-eb8f21820e0c g.chr5:148624541G>A uc003lpy.2 + 15 1700 c.1449G>A c.(1447-1449)tcG>tcA p.S483S ABLIM3_uc003lpz.1_Silent_p.S483S|ABLIM3_uc003lqa.1_Silent_p.S380S|ABLIM3_uc003lqb.3_Silent_p.S372S|ABLIM3_uc003lqc.1_Silent_p.S450S|ABLIM3_uc003lqd.1_Silent_p.S388S|ABLIM3_uc003lqe.1_Silent_p.S372S|ABLIM3_uc003lqf.3_Silent_p.S372S NM_014945 NP_055760 O94929 ABLM3_HUMAN Homo sapiens actin binding LIM protein family, member 3 (ABLIM3), mRNA. 483 axon guidance|cytoskeleton organization cytoplasm actin binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACTATGCTTCGGAGTCTGAGT 0.547000 6 70 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-E8-A415-01A-11D-A23M-08 TCGA-E8-A415-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9bfce78-5a18-4eb8-a3d7-d50482815623 ae6a3edd-10a4-4e72-98e3-eb8f21820e0c g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 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(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(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 9 32 0 0 1 0 0 CYFIP1 23191 broad.mit.edu 37 15 22956381 22956381 + Missense_Mutation SNP A A T TCGA-E8-A415-01A-11D-A23M-08 TCGA-E8-A415-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9bfce78-5a18-4eb8-a3d7-d50482815623 ae6a3edd-10a4-4e72-98e3-eb8f21820e0c g.chr15:22956381A>T uc001yuu.3 + 0 627 c.325A>T c.(325-327)Ata>Tta p.I109L CYFIP1_uc001yus.3_Intron|CYFIP1_uc001yut.3_Intron|CYFIP1_uc010aya.1_Intron NM_001033028 NP_001028200 Q7L576 CYFP1_HUMAN Homo sapiens cytoplasmic FMR1 interacting protein 1 (CYFIP1), transcript variant 2, mRNA. 0 axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome Rac GTPase binding|actin filament binding p.E109D(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101) TGAGTTTGGCATAACTAATGT 0.532000 10 47 0 0 1 0 0 ABCA2 20 broad.mit.edu 37 9 139915257 139915257 + Missense_Mutation SNP T T C TCGA-E8-A415-01A-11D-A23M-08 TCGA-E8-A415-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx c9bfce78-5a18-4eb8-a3d7-d50482815623 ae6a3edd-10a4-4e72-98e3-eb8f21820e0c g.chr9:139915257T>C uc004ckm.1 - 8 1291 c.1241A>G c.(1240-1242)gAg>gGg p.E414G ABCA2_uc022bpy.1_Missense_Mutation_p.E315G|ABCA2_uc022bpz.1_Missense_Mutation_p.E385G|ABCA2_uc011mem.1_Missense_Mutation_p.E384G|ABCA2_uc004ckl.1_Missense_Mutation_p.E315G|ABCA2_uc004ckn.1_5'Flank|ABCA2_uc004cko.1_Missense_Mutation_p.E161G|ABCA2_uc010nca.3_Missense_Mutation_p.E315G NM_212533 NP_997698 Q9BZC7 ABCA2_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 2 (ABCA2), transcript variant 2, mRNA. 384 cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center ATP binding|ATPase activity, coupled to transmembrane movement of substances central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 41 all_cancers(76;0.16) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) GGGTGCGCCCTCCTCAGCGGT 0.716000 3 12 0 0 1 0 0