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 PITPNA 5306 broad.mit.edu 37 17 1456343 1456343 + Missense_Mutation SNP T T C TCGA-EM-A3FK-01A-11D-A21A-08 TCGA-EM-A3FK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d41d18-b4d1-478e-ac23-0eaaa4c5b8d5 23e0a545-3e41-486a-90d1-cc3d672e4a24 g.chr17:1456343T>C uc021tng.1 - 2 408 c.152A>G c.(151-153)gAc>gGc p.D51G PITPNA_uc021tnf.1_5'UTR|PITPNA_uc010cjt.3_5'UTR|PITPNA_uc010vqn.1_Non-coding_Transcript NM_006224 NP_006215 Q00169 PIPNA_HUMAN Homo sapiens phosphatidylinositol transfer protein, alpha (PITPNA), mRNA. 51 axon guidance|lipid metabolic process|visual perception cytoplasm phosphatidylcholine transmembrane transporter activity|phosphatidylinositol transporter activity|protein binding central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1) 7 UCEC - Uterine corpus endometrioid carcinoma (25;0.0845) TTTCTCACCGTCCTTCTCGTA 0.552000 56 89 0 0 1 0 0 RHBDD3 25807 broad.mit.edu 37 22 29656429 29656429 + Missense_Mutation SNP G G A TCGA-EM-A3FK-01A-11D-A21A-08 TCGA-EM-A3FK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d41d18-b4d1-478e-ac23-0eaaa4c5b8d5 23e0a545-3e41-486a-90d1-cc3d672e4a24 g.chr22:29656429G>A uc003aeq.1 - 5 1241 c.869C>T c.(868-870)gCg>gTg p.A290V NM_012265 NP_036397 Q9Y3P4 RHBD3_HUMAN Homo sapiens rhomboid domain containing 3 (RHBDD3), mRNA. 290 integral to membrane serine-type endopeptidase activity lung(1)|ovary(1) 2 ATCCAAGGCCGCCCACATCGG 0.672000 2 2 0 0 1 0 0 CAMSAP1 157922 broad.mit.edu 37 9 138713116 138713116 + Missense_Mutation SNP G G A TCGA-EM-A3FK-01A-11D-A21A-08 TCGA-EM-A3FK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d41d18-b4d1-478e-ac23-0eaaa4c5b8d5 23e0a545-3e41-486a-90d1-cc3d672e4a24 g.chr9:138713116G>A uc004cgr.4 - 10 3391 c.3391C>T c.(3391-3393)Ccg>Tcg p.P1131S CAMSAP1_uc004cgq.4_Missense_Mutation_p.P1021S|CAMSAP1_uc010nbg.3_Missense_Mutation_p.P853S NM_015447 NP_056262 Q5T5Y3 CAMP1_HUMAN Homo sapiens calmodulin regulated spectrin-associated protein 1 (CAMSAP1), mRNA. 1131 cytoplasm|microtubule breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1) 47 OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05) CTCAAGTGCGGGAGCGTCTCT 0.647000 3 46 0 0 1 0 0 BGN 633 broad.mit.edu 37 X 152770767 152770767 + Missense_Mutation SNP G G A rs150272427 byFrequency TCGA-EM-A3FK-01A-11D-A21A-08 TCGA-EM-A3FK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d41d18-b4d1-478e-ac23-0eaaa4c5b8d5 23e0a545-3e41-486a-90d1-cc3d672e4a24 g.chrX:152770767G>A uc004fhr.2 + 2 546 c.310G>A c.(310-312)Gag>Aag p.E104K NM_001711 NP_001702 P21810 PGS1_HUMAN Homo sapiens biglycan (BGN), mRNA. 104 proteinaceous extracellular matrix|transport vesicle extracellular matrix structural constituent breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1) 16 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CGACATCTCCGAGCTCCGCAA 0.617000 26 44 0 0 1 0 0 TRPV2 51393 broad.mit.edu 37 17 16338272 16338272 + Missense_Mutation SNP C C A TCGA-EM-A3FK-01A-11D-A21A-08 TCGA-EM-A3FK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d41d18-b4d1-478e-ac23-0eaaa4c5b8d5 23e0a545-3e41-486a-90d1-cc3d672e4a24 g.chr17:16338272C>A uc002gpy.3 + 13 2582 c.2183C>A c.(2182-2184)gCa>gAa p.A728E TRPV2_uc002gpz.3_Missense_Mutation_p.A298E NM_016113 NP_057197 Q9Y5S1 TRPV2_HUMAN Homo sapiens transient receptor potential cation channel, subfamily V, member 2 (TRPV2), mRNA. 728 sensory perception integral to plasma membrane|melanosome calcium channel activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3) 28 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) CCGTCAGGGGCAGGTGTCCCT 0.627000 12 27 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EM-A3FK-01A-11D-A21A-08 TCGA-EM-A3FK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d41d18-b4d1-478e-ac23-0eaaa4c5b8d5 23e0a545-3e41-486a-90d1-cc3d672e4a24 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 11 24 0 0 1 0 0 CES4A 283848 broad.mit.edu 37 16 67036990 67036990 + Silent SNP C C G TCGA-EM-A3FK-01A-11D-A21A-08 TCGA-EM-A3FK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d41d18-b4d1-478e-ac23-0eaaa4c5b8d5 23e0a545-3e41-486a-90d1-cc3d672e4a24 g.chr16:67036990C>G uc002eqv.3 + 5 892 c.777C>G c.(775-777)gcC>gcG p.A259A CES4A_uc010vix.2_Silent_p.A236A|CES4A_uc002eqw.3_Silent_p.A236A|CES4A_uc010viy.2_Silent_p.A142A|CES4A_uc002eqx.3_Silent_p.A42A|CES4A_uc002eqy.3_Silent_p.A138A NM_001190201 NP_001177130 Q5XG92 EST4A_HUMAN Homo sapiens carboxylesterase 4A (CES4A), transcript variant 3, mRNA. 236 extracellular region carboxylesterase activity large_intestine(2)|liver(2)|lung(4)|ovary(1) 9 CACCCCTAGCCTCGGGTCTCT 0.552000 27 51 0 0 1 0 0 LRP1 4035 broad.mit.edu 37 12 57563020 57563020 + Missense_Mutation SNP C C G TCGA-EM-A3FK-01A-11D-A21A-08 TCGA-EM-A3FK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d41d18-b4d1-478e-ac23-0eaaa4c5b8d5 23e0a545-3e41-486a-90d1-cc3d672e4a24 g.chr12:57563020C>G uc001snd.3 + 19 3559 c.3093C>G c.(3091-3093)caC>caG p.H1031Q LRP1_uc009zpi.1_Non-coding_Transcript NM_002332 NP_002323 Q07954 LRP1_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA. 1031 LDL-receptor class A 7. aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) TCCCCGAGCACTGGACCTGCG 0.612000 3 46 0 0 1 0 0 MAPK8IP2 23542 broad.mit.edu 37 22 51044090 51044090 + Missense_Mutation SNP C C T TCGA-EM-A3FK-01A-11D-A21A-08 TCGA-EM-A3FK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d41d18-b4d1-478e-ac23-0eaaa4c5b8d5 23e0a545-3e41-486a-90d1-cc3d672e4a24 g.chr22:51044090C>T uc003bmx.3 + 7 2056 c.1939C>T c.(1939-1941)Cgc>Tgc p.R647C MAPK8IP2_uc003bmy.3_Missense_Mutation_p.R620C|MAPK8IP2_uc011asc.2_Missense_Mutation_p.R2C NM_012324 NP_036456 Q13387 JIP2_HUMAN Homo sapiens mitogen-activated protein kinase 8 interacting protein 2 (MAPK8IP2), transcript variant 1, mRNA. 648 SH3. MAPKKK cascade|behavioral fear response|dendrite morphogenesis|nonassociative learning|positive regulation of anti-apoptosis|regulation of JNK cascade|regulation of excitatory postsynaptic membrane potential|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior cytoplasm|postsynaptic density MAP-kinase scaffold activity|beta-amyloid binding|kinesin binding|protein kinase activator activity|protein kinase binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2) 7 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) CTTCAACATGCGCACGGGGGA 0.652000 4 21 0 0 1 0 0 BC037357 0 broad.mit.edu 37 17 15332891 15332891 + RNA SNP G G A TCGA-EM-A3FK-01A-11D-A21A-08 TCGA-EM-A3FK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d41d18-b4d1-478e-ac23-0eaaa4c5b8d5 23e0a545-3e41-486a-90d1-cc3d672e4a24 g.chr17:15332891G>A uc002goo.3 - 0 c.428C>T Homo sapiens cDNA clone IMAGE:3626633, partial cds. ggtcatggcggtagtgatggg 0.493000 3 15 0 0 1 0 0 SAGE1 55511 broad.mit.edu 37 X 134995047 134995047 + Frame_Shift_Del DEL A A - TCGA-EM-A3FK-01A-11D-A21A-08 TCGA-EM-A3FK-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d41d18-b4d1-478e-ac23-0eaaa4c5b8d5 23e0a545-3e41-486a-90d1-cc3d672e4a24 g.chrX:134995047delA uc004ezh.3 + 19 2873 c.2706delA c.(2704-2706)agafs p.R902fs SAGE1_uc010nry.1_3'UTR|SAGE1_uc011mvv.2_Frame_Shift_Del_p.R526fs NM_018666 NP_061136 Q9NXZ1 SAGE1_HUMAN Homo sapiens sarcoma antigen 1 (SAGE1), mRNA. 902 breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 Acute lymphoblastic leukemia(192;0.000127) AGCACATGAGAAAAAGATAAT 0.368 2 4 --- --- --- ---