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 ZMIZ2 83637 broad.mit.edu 37 7 44801338 44801338 + Missense_Mutation SNP G G A TCGA-BJ-A45F-01A-12D-A23U-08 TCGA-BJ-A45F-11A-21D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ce7fe03-659a-4e69-a365-9096354276e4 3f734baf-71fe-415d-aad5-cb29b08cfe9c g.chr7:44801338G>A uc003tlr.3 + 10 1553 c.1430G>A c.(1429-1431)cGg>cAg p.R477Q ZMIZ2_uc003tlq.3_Missense_Mutation_p.R419Q|ZMIZ2_uc003tls.3_Missense_Mutation_p.R451Q|ZMIZ2_uc003tlt.3_Missense_Mutation_p.R100Q|ZMIZ2_uc010kyj.3_5'UTR NM_031449 NP_113637 Q8NF64 ZMIZ2_HUMAN Homo sapiens zinc finger, MIZ-type containing 2 (ZMIZ2), transcript variant 1, mRNA. 477 Interaction with AR. positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear replication fork ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 CACGAGGACCGGCAGATGAAC 0.612000 16 17 0 0 1 0 0 FUT3 2525 broad.mit.edu 37 19 5844400 5844400 + Missense_Mutation SNP T T C rs417341 byFrequency TCGA-BJ-A45F-01A-12D-A23U-08 TCGA-BJ-A45F-11A-21D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ce7fe03-659a-4e69-a365-9096354276e4 3f734baf-71fe-415d-aad5-cb29b08cfe9c g.chr19:5844400T>C uc002mdk.2 - 1 548 c.451A>G c.(451-453)Aga>Gga p.R151G FUT3_uc002mdm.2_Missense_Mutation_p.R151G|FUT3_uc002mdj.2_Missense_Mutation_p.R151G|FUT3_uc002mdl.2_Missense_Mutation_p.R151G|FUT3_uc021unn.1_Missense_Mutation_p.R151G NM_001097641 NP_001091110 P21217 FUT3_HUMAN Homo sapiens fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group) (FUT3), transcript variant 4, mRNA. 151 protein glycosylation Golgi cisterna membrane|integral to membrane|membrane fraction 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1) 14 TTGAAGTATCTGTCCAGGGCT 0.642000 14 56 0 0 1 0 0 CCDC105 126402 broad.mit.edu 37 19 15132292 15132292 + Silent SNP C C T TCGA-BJ-A45F-01A-12D-A23U-08 TCGA-BJ-A45F-11A-21D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ce7fe03-659a-4e69-a365-9096354276e4 3f734baf-71fe-415d-aad5-cb29b08cfe9c g.chr19:15132292C>T uc002nae.2 + 3 1101 c.1002C>T c.(1000-1002)gcC>gcT p.A334A NM_173482 NP_775753 Q8IYK2 CC105_HUMAN Homo sapiens coiled-coil domain containing 105 (CCDC105), mRNA. 334 microtubule cytoskeleton organization microtubule NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2) 23 GTGTGTGTGCCTCGCTGGCGC 0.622000 3 30 0 0 1 0 0 GRAMD2 196996 broad.mit.edu 37 15 72454662 72454662 + Missense_Mutation SNP T T C TCGA-BJ-A45F-01A-12D-A23U-08 TCGA-BJ-A45F-11A-21D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ce7fe03-659a-4e69-a365-9096354276e4 3f734baf-71fe-415d-aad5-cb29b08cfe9c g.chr15:72454662T>C uc002atq.3 - 10 1037 c.1013A>G c.(1012-1014)gAg>gGg p.E338G GRAMD2_uc010bis.2_Missense_Mutation_p.E338G|GRAMD2_uc010ukh.2_Missense_Mutation_p.E132G NM_001012642 NP_001012660 Q8IUY3 GRAM2_HUMAN Homo sapiens GRAM domain containing 2 (GRAMD2), mRNA. 338 integral to membrane cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 13 TAACTGCTGCTCTAGCCGAGA 0.488000 11 33 0 0 1 0 0 SPECC1 92521 broad.mit.edu 37 17 20013740 20013740 + Splice_Site SNP C C A TCGA-BJ-A45F-01A-12D-A23U-08 TCGA-BJ-A45F-11A-21D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ce7fe03-659a-4e69-a365-9096354276e4 3f734baf-71fe-415d-aad5-cb29b08cfe9c g.chr17:20013740C>A uc002gwq.3 + 3 258 c.148_splice c.e3-1 p.L50_splice SPECC1_uc010cqx.3_Splice_Site_p.L50_splice|SPECC1_uc002gwr.3_Splice_Site_p.L50_splice|SPECC1_uc002gws.3_Splice_Site_p.L50_splice NM_001243439 NP_001230368 Q5M775 CYTSB_HUMAN Homo sapiens sperm antigen with calponin homology and coiled-coil domains 1 (SPECC1), transcript variant 6, mRNA. 50 nucleus breast(1)|large_intestine(3)|ovary(4) 8 KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196) ACTCTCTCAGCTCAAGAGGGC 0.572000 17 51 0 0 1 0 0 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T T C rs11554290 TCGA-BJ-A45F-01A-12D-A23U-08 TCGA-BJ-A45F-11A-21D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ce7fe03-659a-4e69-a365-9096354276e4 3f734baf-71fe-415d-aad5-cb29b08cfe9c g.chr1:115256529T>C uc009wgu.3 - 2 436 c.182A>G c.(181-183)cAa>cGa p.Q61R NM_002524 NP_002515 P01111 RASN_HUMAN Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA. 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GTACTCTTCTTGTCCAGCTGT 0.458000 Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 31 46 0 0 1 0 0 CD93 22918 broad.mit.edu 37 20 23065236 23065236 + Missense_Mutation SNP G G C TCGA-BJ-A45F-01A-12D-A23U-08 TCGA-BJ-A45F-11A-21D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ce7fe03-659a-4e69-a365-9096354276e4 3f734baf-71fe-415d-aad5-cb29b08cfe9c g.chr20:23065236G>C uc002wsv.3 - 0 1742 c.1594C>G c.(1594-1596)Ctc>Gtc p.L532V NM_012072 NP_036204 Q9NPY3 C1QR1_HUMAN Homo sapiens CD93 molecule (CD93), mRNA. 532 cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis plasma membrane calcium ion binding|complement component C1q binding|receptor activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118) AGCATCTTGAGTGGGGCAGAT 0.662000 21 59 0 0 1 0 0 TG 7038 broad.mit.edu 37 8 133919035 133919035 + Missense_Mutation SNP A A C TCGA-BJ-A45F-01A-12D-A23U-08 TCGA-BJ-A45F-11A-21D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ce7fe03-659a-4e69-a365-9096354276e4 3f734baf-71fe-415d-aad5-cb29b08cfe9c g.chr8:133919035A>C uc003ytw.3 + 16 3778 c.3737A>C c.(3736-3738)cAa>cCa p.Q1246P TG_uc010mdw.3_Missense_Mutation_p.Q5P NM_003235 NP_003226 P01266 THYG_HUMAN Homo sapiens thyroglobulin (TG), mRNA. 1246 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) CAGCAGTGCCAATTGCTGTGC 0.632000 10 28 0 0 1 0 0 EEF1A1 1915 broad.mit.edu 37 6 74228523 74228523 + Missense_Mutation SNP T T C TCGA-BJ-A45F-01A-12D-A23U-08 TCGA-BJ-A45F-11A-21D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ce7fe03-659a-4e69-a365-9096354276e4 3f734baf-71fe-415d-aad5-cb29b08cfe9c g.chr6:74228523T>C uc003phi.3 - 3 1662 c.670A>G c.(670-672)Agt>Ggt p.S224G EEF1A1_uc003phj.3_Missense_Mutation_p.S224G|EEF1A1_uc021zbs.1_Intron|EEF1A1_uc003phl.3_Intron|EEF1A1_uc003phm.1_Intron|EEF1A1_uc021zbt.1_5'Flank|EEF1A1_uc021zbu.1_5'Flank NM_001402 NP_001393 P68104 EF1A1_HUMAN Homo sapiens eukaryotic translation elongation factor 1 alpha 1 (EEF1A1), mRNA. 224 cytosol|eukaryotic translation elongation factor 1 complex GTP binding|GTPase activity|protein binding|translation elongation factor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3) 18 GTGGTTCCACTGGCATTGCCA 0.517000 OREG0003891|OREG0003895 type=REGULATORY REGION|Gene=D16891|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|Gene=EEF1A1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 17 24 0 0 1 0 0 CACNA2D1 781 broad.mit.edu 37 7 81596976 81596977 + Frame_Shift_Del DEL AC AC - TCGA-BJ-A45F-01A-12D-A23U-08 TCGA-BJ-A45F-11A-21D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ce7fe03-659a-4e69-a365-9096354276e4 3f734baf-71fe-415d-aad5-cb29b08cfe9c g.chr7:81596976_81596977delAC uc003uhr.1 - 29 2654_2655 c.2398_2399delGT c.(2398-2400)gttfs p.V800fs CACNA2D1_uc011kgy.1_Frame_Shift_Del_p.V12fs NM_000722 NP_000713 P54289 CA2D1_HUMAN Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 1 (CACNA2D1), mRNA. 812 voltage-gated calcium channel complex metal ion binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) TTTAATTCCAACAACTGAAAAA 0.262 2 4 --- --- --- ---