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 KIAA0240 23506 broad.mit.edu 37 6 42796798 42796798 + Nonsense_Mutation SNP C C T TCGA-ET-A25J-01A-11D-A16O-08 TCGA-ET-A25J-11A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 190847d8-d1d7-49ed-b1b3-7f44d7bc5757 cdf78c2d-64c7-4ffe-a837-7b24d298b01c g.chr6:42796798C>T uc003osn.1 + 5 878 c.727C>T c.(727-729)Cag>Tag p.Q243* KIAA0240_uc003osm.1_Nonsense_Mutation_p.Q243*|KIAA0240_uc011duw.1_Nonsense_Mutation_p.Q243*|KIAA0240_uc003oso.1_Nonsense_Mutation_p.Q243*|KIAA0240_uc003osp.1_Nonsense_Mutation_p.Q243* NM_015349 NP_056164 Q6AI39 K0240_HUMAN Homo sapiens KIAA0240 (KIAA0240), mRNA. 243 p.G242V(1) NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(3)|skin(3) 44 Colorectal(47;0.196) Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104) GGGCAGCGGGCAGCAAGCCCC 0.438000 32 47 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-ET-A25J-01A-11D-A16O-08 TCGA-ET-A25J-11A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 190847d8-d1d7-49ed-b1b3-7f44d7bc5757 cdf78c2d-64c7-4ffe-a837-7b24d298b01c 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 29 36 0 0 1 0 0 GTDC1 79712 broad.mit.edu 37 2 144704667 144704667 + Missense_Mutation SNP A A T TCGA-ET-A25J-01A-11D-A16O-08 TCGA-ET-A25J-11A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 190847d8-d1d7-49ed-b1b3-7f44d7bc5757 cdf78c2d-64c7-4ffe-a837-7b24d298b01c g.chr2:144704667A>T uc002tvp.3 - 11 1608 c.1329T>A c.(1327-1329)caT>caA p.H443Q GTDC1_uc002tvo.3_3'UTR|GTDC1_uc021vqf.1_Missense_Mutation_p.H358Q|GTDC1_uc010fnn.3_Missense_Mutation_p.H443Q|GTDC1_uc002tvs.3_Missense_Mutation_p.H411Q|GTDC1_uc021vqg.1_Missense_Mutation_p.H325Q|GTDC1_uc002tvr.3_Missense_Mutation_p.H358Q|GTDC1_uc010fno.3_Missense_Mutation_p.H314Q NM_001006636 NP_001158101 Q4AE62 GTDC1_HUMAN Homo sapiens glycosyltransferase-like domain containing 1 (GTDC1), transcript variant 1, mRNA. 443 biosynthetic process transferase activity, transferring glycosyl groups central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1) 25 BRCA - Breast invasive adenocarcinoma(221;0.0914) TGAATTTACCATGTAGGGCTG 0.448000 29 55 0 0 1 0 0 CEP350 9857 broad.mit.edu 37 1 180062807 180062807 + Missense_Mutation SNP A A G TCGA-ET-A25J-01A-11D-A16O-08 TCGA-ET-A25J-11A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 190847d8-d1d7-49ed-b1b3-7f44d7bc5757 cdf78c2d-64c7-4ffe-a837-7b24d298b01c g.chr1:180062807A>G uc001gnt.3 + 33 7950 c.7567A>G c.(7567-7569)Aaa>Gaa p.K2523E CEP350_uc009wxl.2_Missense_Mutation_p.K2522E|CEP350_uc001gnv.3_Missense_Mutation_p.K658E|CEP350_uc001gnw.1_Missense_Mutation_p.K280E|CEP350_uc001gnx.1_Missense_Mutation_p.K280E NM_014810 NP_055625 Q5VT06 CE350_HUMAN Homo sapiens centrosomal protein 350kDa (CEP350), mRNA. 2523 CAP-Gly. centrosome|nucleus|spindle central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 66 TAGTTTTGCTAAAGGATTTTG 0.383000 37 44 0 0 1 0 0 SLC6A3 6531 broad.mit.edu 37 5 1403135 1403135 + Missense_Mutation SNP C C T TCGA-ET-A25J-01A-11D-A16O-08 TCGA-ET-A25J-11A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 190847d8-d1d7-49ed-b1b3-7f44d7bc5757 cdf78c2d-64c7-4ffe-a837-7b24d298b01c g.chr5:1403135C>T uc003jck.3 - 12 1795 c.1669G>A c.(1669-1671)Gcc>Acc p.A557T NM_001044 NP_001035 Q01959 SC6A3_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 (SLC6A3), mRNA. 557 cell death|neurotransmitter biosynthetic process axon|cytoplasm|integral to plasma membrane|neuronal cell body breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 38 OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262) Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721) AGCGCGTTGGCCCAGTCGGGG 0.612000 3 23 0 0 1 0 0 YSK4 80122 broad.mit.edu 37 2 135745373 135745373 + Nonsense_Mutation SNP G G A TCGA-ET-A25J-01A-11D-A16O-08 TCGA-ET-A25J-11A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 190847d8-d1d7-49ed-b1b3-7f44d7bc5757 cdf78c2d-64c7-4ffe-a837-7b24d298b01c g.chr2:135745373G>A uc002tue.1 - 6 1100 c.1069C>T c.(1069-1071)Cga>Tga p.R357* YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Nonsense_Mutation_p.R244*|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.4_Nonsense_Mutation_p.R85*|YSK4_uc002tui.4_Nonsense_Mutation_p.R374* NM_025052 NP_079328 Q56UN5 YSK4_HUMAN Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA. 357 ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 BRCA - Breast invasive adenocarcinoma(221;0.112) TCAGGTTTTCGCGTTTTACTA 0.378000 20 31 0 0 1 0 0 IPMK 253430 broad.mit.edu 37 10 59956151 59956151 + Missense_Mutation SNP T T C TCGA-ET-A25J-01A-11D-A16O-08 TCGA-ET-A25J-11A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 190847d8-d1d7-49ed-b1b3-7f44d7bc5757 cdf78c2d-64c7-4ffe-a837-7b24d298b01c g.chr10:59956151T>C uc001jkb.3 - 5 1260 c.937A>G c.(937-939)Agc>Ggc p.S313G NM_152230 NP_689416 Q8NFU5 IPMK_HUMAN Homo sapiens inositol polyphosphate multikinase (IPMK), mRNA. 313 nucleus ATP binding|inositol trisphosphate 6-kinase activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1) 22 TTGGACAAGCTTTTGCCCACT 0.383000 3 153 0 0 1 0 0 SHQ1 55164 broad.mit.edu 37 3 72890283 72890283 + Silent SNP G G C TCGA-ET-A25J-01A-11D-A16O-08 TCGA-ET-A25J-11A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 190847d8-d1d7-49ed-b1b3-7f44d7bc5757 cdf78c2d-64c7-4ffe-a837-7b24d298b01c g.chr3:72890283G>C uc003dpf.3 - 3 506 c.399C>G c.(397-399)ccC>ccG p.P133P SHQ1_uc010hod.3_Silent_p.P44P NM_018130 NP_060600 Q6PI26 SHQ1_HUMAN Homo sapiens SHQ1 homolog (S. cerevisiae) (SHQ1), mRNA. 133 ribonucleoprotein complex assembly cytosol|nucleoplasm protein binding p.P133P(2) NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 27 Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204) BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213) CCTCTTCACAGGGTGTCTGCT 0.393000 31 44 0 0 1 0 0 XIST 7503 broad.mit.edu 37 X 73065811 73065811 + RNA SNP G G A TCGA-ET-A25J-01A-11D-A16O-08 TCGA-ET-A25J-11A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 190847d8-d1d7-49ed-b1b3-7f44d7bc5757 cdf78c2d-64c7-4ffe-a837-7b24d298b01c g.chrX:73065811G>A uc004ebm.1 - 0 c.6778C>T Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA. GATGGAATGGGCAAAGTGGTT 0.488000 5 183 0 0 1 0 0 SDK1 221935 broad.mit.edu 37 7 4008968 4008968 + Silent SNP C C A TCGA-ET-A25J-01A-11D-A16O-08 TCGA-ET-A25J-11A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 190847d8-d1d7-49ed-b1b3-7f44d7bc5757 cdf78c2d-64c7-4ffe-a837-7b24d298b01c g.chr7:4008968C>A uc003smx.3 + 10 1765 c.1626C>A c.(1624-1626)ccC>ccA p.P542P NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA. 542 Ig-like C2-type 5. cell adhesion integral to membrane p.P542P(2) NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) AGATCGCGCCCGTCTTCATCC 0.552000 7 278 0 0 1 0 0 TREML2 79865 broad.mit.edu 37 6 41162468 41162468 + Silent SNP A A G TCGA-ET-A25J-01A-11D-A16O-08 TCGA-ET-A25J-11A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 190847d8-d1d7-49ed-b1b3-7f44d7bc5757 cdf78c2d-64c7-4ffe-a837-7b24d298b01c g.chr6:41162468A>G uc010jxm.1 - 2 659 c.480T>C c.(478-480)ccT>ccC p.P160P NM_024807 NP_079083 Q5T2D2 TRML2_HUMAN Homo sapiens triggering receptor expressed on myeloid cells-like 2 (TREML2), mRNA. 160 T cell activation cell surface|integral to membrane|plasma membrane protein binding|receptor activity breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1) 18 Ovarian(28;0.0418)|Colorectal(47;0.196) CAGTGGTAAAAGGGGCATCAG 0.542000 3 46 0 0 1 0 0