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 NDST2 8509 broad.mit.edu 37 10 75563477 75563477 + Missense_Mutation SNP T T C TCGA-DJ-A1QN-01A-11D-A14W-08 TCGA-DJ-A1QN-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34a8702a-2fda-435f-be31-da579533f3a1 04e153bc-3c9d-4cd4-bf18-cf74c14c1352 g.chr10:75563477T>C uc001jvk.2 - 10 2801 c.1997A>G c.(1996-1998)aAt>aGt p.N666S NDST2_uc010qks.1_Missense_Mutation_p.N292S|NDST2_uc010qkt.1_Missense_Mutation_p.N543S|NDST2_uc001jvl.1_Missense_Mutation_p.N73S|NDST2_uc009xro.2_Missense_Mutation_p.N292S|NDST2_uc010qku.1_Missense_Mutation_p.N541S NM_003635 NP_003626 P52849 NDST2_HUMAN Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2 (NDST2), mRNA. 666 Heparan sulfate N-sulfotransferase 2. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 30 Prostate(51;0.0112) AGTGCTGGCATTGGAAGGAAC 0.493000 45 162 0 0 1 0 0 FGA 2243 broad.mit.edu 37 4 155505289 155505289 + Missense_Mutation SNP A A G TCGA-DJ-A1QN-01A-11D-A14W-08 TCGA-DJ-A1QN-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34a8702a-2fda-435f-be31-da579533f3a1 04e153bc-3c9d-4cd4-bf18-cf74c14c1352 g.chr4:155505289A>G uc003iod.1 - 5 2646 c.2588T>C c.(2587-2589)cTt>cCt p.L863P NM_000508 NP_000499 P02671 FIBA_HUMAN Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA. 863 Fibrinogen C-terminal. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 73 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) TTGGGTCACAAGGGGCCTAAT 0.448000 3 100 0 0 1 0 0 SLC5A2 6524 broad.mit.edu 37 16 31499718 31499718 + Missense_Mutation SNP G G A TCGA-DJ-A1QN-01A-11D-A14W-08 TCGA-DJ-A1QN-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34a8702a-2fda-435f-be31-da579533f3a1 04e153bc-3c9d-4cd4-bf18-cf74c14c1352 g.chr16:31499718G>A uc002ecf.4 + 8 1055 c.1036G>A c.(1036-1038)Gtg>Atg p.V346M SLC5A2_uc010car.3_Non-coding_Transcript|C16orf58_uc002ecg.3_Non-coding_Transcript NM_003041 NP_003032 P31639 SC5A2_HUMAN Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 2 (SLC5A2), mRNA. 346 carbohydrate metabolic process integral to membrane low-affinity glucose:sodium symporter activity p.V346M(2) endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 25 GGTGGCGTGCGTGGTGCCTGA 0.672000 5 10 0 0 1 0 0 HLA-E 3133 broad.mit.edu 37 6 30459066 30459066 + Missense_Mutation SNP A A G TCGA-DJ-A1QN-01A-11D-A14W-08 TCGA-DJ-A1QN-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34a8702a-2fda-435f-be31-da579533f3a1 04e153bc-3c9d-4cd4-bf18-cf74c14c1352 g.chr6:30459066A>G uc011dmh.2 + 2 913 c.886A>G c.(886-888)Agg>Ggg p.R296G HLA-E_uc011dmg.2_Non-coding_Transcript|HLA-E_uc003nqg.3_Missense_Mutation_p.R255G P13747 HLAE_HUMAN Homo sapiens major histocompatibility complex, class I, E (HLA-E), mRNA. 255 Connecting peptide. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway MHC class I protein complex|integral to membrane MHC class I receptor activity breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(2)|lung(1)|ovary(3)|skin(1)|urinary_tract(1) 18 CGTGGAGACCAGGCCTGCAGG 0.632000 3 89 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DJ-A1QN-01A-11D-A14W-08 TCGA-DJ-A1QN-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34a8702a-2fda-435f-be31-da579533f3a1 04e153bc-3c9d-4cd4-bf18-cf74c14c1352 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 36 52 0 0 1 0 0 VPS52 6293 broad.mit.edu 37 6 33235075 33235075 + Missense_Mutation SNP G G A TCGA-DJ-A1QN-01A-11D-A14W-08 TCGA-DJ-A1QN-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34a8702a-2fda-435f-be31-da579533f3a1 04e153bc-3c9d-4cd4-bf18-cf74c14c1352 g.chr6:33235075G>A uc003odm.1 - 10 1225 c.1015C>T c.(1015-1017)Cgc>Tgc p.R339C VPS52_uc003odn.1_Intron NM_022553 NP_072047 Q8N1B4 VPS52_HUMAN Homo sapiens vacuolar protein sorting 52 homolog (S. cerevisiae) (VPS52), mRNA. 339 protein transport Golgi apparatus|endosome membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1) 28 TTCCTGCTGCGGAGCGATGGC 0.567000 3 55 0 0 1 0 0 EVPL 2125 broad.mit.edu 37 17 74006561 74006561 + Nonsense_Mutation SNP G G A TCGA-DJ-A1QN-01A-11D-A14W-08 TCGA-DJ-A1QN-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34a8702a-2fda-435f-be31-da579533f3a1 04e153bc-3c9d-4cd4-bf18-cf74c14c1352 g.chr17:74006561G>A uc010wss.1 - 21 3019 c.2791C>T c.(2791-2793)Caa>Taa p.Q931* EVPL_uc002jqi.2_Nonsense_Mutation_p.Q909*|EVPL_uc010wst.1_Nonsense_Mutation_p.Q379* NM_001988 NP_001979 Q92817 EVPL_HUMAN Homo sapiens envoplakin (EVPL), mRNA. 909 Central fibrous rod domain. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 CTCCCTGCTTGGGCAGGGCTC 0.637000 5 26 0 0 1 0 0 PREB 10113 broad.mit.edu 37 2 27357185 27357185 + Silent SNP G G A TCGA-DJ-A1QN-01A-11D-A14W-08 TCGA-DJ-A1QN-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34a8702a-2fda-435f-be31-da579533f3a1 04e153bc-3c9d-4cd4-bf18-cf74c14c1352 g.chr2:27357185G>A uc002rix.1 - 0 358 c.105C>T c.(103-105)ggC>ggT p.G35G PREB_uc002riy.1_5'UTR NM_013388 NP_037520 Q9HCU5 PREB_HUMAN Homo sapiens prolactin regulatory element binding (PREB), mRNA. 35 COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane|nucleus DNA binding|guanyl-nucleotide exchange factor activity|protein binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1) 14 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCTTGGCGGCGCCTCCTCCGC 0.711000 3 15 0 0 1 0 0 SH3D21 79729 broad.mit.edu 37 1 36786296 36786296 + Missense_Mutation SNP C C A TCGA-DJ-A1QN-01A-11D-A14W-08 TCGA-DJ-A1QN-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34a8702a-2fda-435f-be31-da579533f3a1 04e153bc-3c9d-4cd4-bf18-cf74c14c1352 g.chr1:36786296C>A uc010oia.1 + 13 2060 c.2032C>A c.(2032-2034)Caa>Aaa p.Q678K SH3D21_uc010oib.1_Missense_Mutation_p.Q567K|SH3D21_uc010oic.1_Non-coding_Transcript|SH3D21_uc009vuz.1_Missense_Mutation_p.Q324K NM_001162530 NP_078952 A4FU49 SH321_HUMAN Homo sapiens SH3 domain containing 21 (SH3D21), transcript variant 1, mRNA. 562 endometrium(1)|large_intestine(6)|lung(4)|pancreas(1) 12 GCTGGTCCCGCAAAACTACAC 0.577000 3 39 0 0 1 0 0