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 NBPF8 728841 broad.mit.edu 37 1 144220806 144220806 + Missense_Mutation SNP G G T TCGA-2A-A8W1-01A-11D-A377-08 TCGA-2A-A8W1-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaee15be-7d62-47c8-bd51-6468b83855e4 1b8d7af8-3100-4f69-9f2c-4916afd1298b g.chr1:144220806G>T ENST00000369373.5 + 2 73 c.73G>T c.(73-75)Gat>Tat p.D25Y neuroblastoma breakpoint family, member 8 GGAGCTGCTGGATGAGAAAGA 0.483 20 170 --- --- --- --- UCK2 7371 broad.mit.edu 37 1 165872475 165872475 + Missense_Mutation SNP A A C TCGA-2A-A8W1-01A-11D-A377-08 TCGA-2A-A8W1-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaee15be-7d62-47c8-bd51-6468b83855e4 1b8d7af8-3100-4f69-9f2c-4916afd1298b g.chr1:165872475A>C ENST00000367879.4 + 5 859 c.556A>C c.(556-558)Att>Ctt p.I186L UCK2_ENST00000462329.1_3'UTR|UCK2_ENST00000372212.4_3'UTR|UCK2_ENST00000469256.2_Missense_Mutation_p.I36L|UCK2_ENST00000470820.1_Missense_Mutation_p.I36L NM_012474.4 NP_036606.2 Q9BZX2 UCK2_HUMAN uridine-cytidine kinase 2 186 pyrimidine base metabolic process|pyrimidine nucleoside salvage cytosol ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity breast(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 10 all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155) ATCTCAGTACATTACGTTCGT 0.388 6 172 --- --- --- --- HMCN1 83872 broad.mit.edu 37 1 185880806 185880806 + Splice_Site SNP G G A TCGA-2A-A8W1-01A-11D-A377-08 TCGA-2A-A8W1-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaee15be-7d62-47c8-bd51-6468b83855e4 1b8d7af8-3100-4f69-9f2c-4916afd1298b g.chr1:185880806G>A ENST00000271588.4 + 6 1023 c.794G>A c.(793-795)gGg>gAg p.G265E HMCN1_ENST00000367492.2_Splice_Site_p.G265E NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 265 response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 TGTCTTTCAGGGAAGCTGATA 0.373 42 64 --- --- --- --- MIA3 375056 broad.mit.edu 37 1 222833531 222833531 + Missense_Mutation SNP A A G TCGA-2A-A8W1-01A-11D-A377-08 TCGA-2A-A8W1-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaee15be-7d62-47c8-bd51-6468b83855e4 1b8d7af8-3100-4f69-9f2c-4916afd1298b g.chr1:222833531A>G ENST00000344922.5 + 24 5013 c.4988A>G c.(4987-4989)cAg>cGg p.Q1663R MIA3_ENST00000344441.6_Missense_Mutation_p.Q1663R|MIA3_ENST00000344507.1_Intron|RP11-378J18.8_ENST00000608771.1_RNA|MIA3_ENST00000340535.7_Missense_Mutation_p.Q541R NM_198551.2 NP_940953.2 Q5JRA6 MIA3_HUMAN melanoma inhibitory activity family, member 3 1663 Pro-rich. exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing endoplasmic reticulum membrane|integral to membrane protein binding breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1) 80 GBM - Glioblastoma multiforme(131;0.0199) CCTCTGAGCCAGAATGGCTCT 0.468 25 25 --- --- --- --- LRP1B 53353 broad.mit.edu 37 2 141945999 141945999 + Missense_Mutation SNP G G C TCGA-2A-A8W1-01A-11D-A377-08 TCGA-2A-A8W1-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaee15be-7d62-47c8-bd51-6468b83855e4 1b8d7af8-3100-4f69-9f2c-4916afd1298b g.chr2:141945999G>C ENST00000389484.3 - 7 1975 c.1004C>G c.(1003-1005)cCa>cGa p.P335R NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 335 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CCCTGCTATTGGATCTACTGC 0.368 TSP Lung(27;0.18) 17 47 --- --- --- --- EPHB1 2047 broad.mit.edu 37 3 134670794 134670794 + Silent SNP C C T TCGA-2A-A8W1-01A-11D-A377-08 TCGA-2A-A8W1-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaee15be-7d62-47c8-bd51-6468b83855e4 1b8d7af8-3100-4f69-9f2c-4916afd1298b g.chr3:134670794C>T ENST00000398015.3 + 3 1075 c.705C>T c.(703-705)ccC>ccT p.P235P EPHB1_ENST00000488154.1_Intron NM_004441.4 NP_004432.1 P54762 EPHB1_HUMAN EPH receptor B1 235 Cys-rich. integral to plasma membrane ATP binding|ephrin receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 130 TGGACGTGCCCATCAAACTCT 0.557 65 79 --- --- --- --- PDK4 5166 broad.mit.edu 37 7 95222106 95222106 + Missense_Mutation SNP G G C TCGA-2A-A8W1-01A-11D-A377-08 TCGA-2A-A8W1-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaee15be-7d62-47c8-bd51-6468b83855e4 1b8d7af8-3100-4f69-9f2c-4916afd1298b g.chr7:95222106G>C ENST00000005178.5 - 4 692 c.495C>G c.(493-495)aaC>aaG p.N165K NM_002612.3 NP_002603.1 Q16654 PDK4_HUMAN pyruvate dehydrogenase kinase, isozyme 4 165 Histidine kinase. glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 15 all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0151) TAGAAATACGGTTCATGTAAA 0.373 4 64 --- --- --- --- XKR9 389668 broad.mit.edu 37 8 71646088 71646088 + Missense_Mutation SNP T T C TCGA-2A-A8W1-01A-11D-A377-08 TCGA-2A-A8W1-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaee15be-7d62-47c8-bd51-6468b83855e4 1b8d7af8-3100-4f69-9f2c-4916afd1298b g.chr8:71646088T>C ENST00000408926.3 + 5 1085 c.551T>C c.(550-552)gTa>gCa p.V184A XKR9_ENST00000520030.1_Missense_Mutation_p.V184A|XKR9_ENST00000520273.1_Intron NM_001011720.1 NP_001011720.1 Q5GH70 XKR9_HUMAN XK, Kell blood group complex subunit-related family, member 9 184 integral to membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 19 Breast(64;0.0716) Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166) GATTATCAAGTAGCTTTAAGA 0.313 16 67 --- --- --- --- ARHGAP21 57584 broad.mit.edu 37 10 24880205 24880205 + Missense_Mutation SNP G G T TCGA-2A-A8W1-01A-11D-A377-08 TCGA-2A-A8W1-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaee15be-7d62-47c8-bd51-6468b83855e4 1b8d7af8-3100-4f69-9f2c-4916afd1298b g.chr10:24880205G>T ENST00000396432.2 - 24 4585 c.4099C>A c.(4099-4101)Cat>Aat p.H1367N ARHGAP21_ENST00000320481.6_Missense_Mutation_p.H1154N NM_020824.3 NP_065875.3 Q5T5U3 RHG21_HUMAN Rho GTPase activating protein 21 1366 signal transduction cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane GTPase activator activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1) 78 GTGAGTAAATGATCTATGTTT 0.448 28 55 --- --- --- --- LRRC43 254050 broad.mit.edu 37 12 122685876 122685876 + Splice_Site SNP G G C TCGA-2A-A8W1-01A-11D-A377-08 TCGA-2A-A8W1-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaee15be-7d62-47c8-bd51-6468b83855e4 1b8d7af8-3100-4f69-9f2c-4916afd1298b g.chr12:122685876G>C ENST00000339777.4 + 11 1871 c.1843G>C c.(1843-1845)Gaa>Caa p.E615Q LRRC43_ENST00000425921.1_Splice_Site_p.E430Q|LRRC43_ENST00000537733.1_3'UTR NM_152759.4 NP_689972.3 Q8N309 LRC43_HUMAN leucine rich repeat containing 43 615 NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2) 19 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225) TGCCAAAAAAGGTGAGTGCCG 0.522 24 39 --- --- --- --- VWA8 23078 broad.mit.edu 37 13 42273390 42273390 + Silent SNP A A C TCGA-2A-A8W1-01A-11D-A377-08 TCGA-2A-A8W1-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaee15be-7d62-47c8-bd51-6468b83855e4 1b8d7af8-3100-4f69-9f2c-4916afd1298b g.chr13:42273390A>C ENST00000379310.3 - 29 3449 c.3381T>G c.(3379-3381)acT>acG p.T1127T NM_015058.1 NP_055873.1 von Willebrand factor A domain containing 8 CTACATAGAGAGTATTTTGCT 0.378 29 35 --- --- --- --- IRX3 79191 broad.mit.edu 37 16 54319405 54319405 + Missense_Mutation SNP G G A TCGA-2A-A8W1-01A-11D-A377-08 TCGA-2A-A8W1-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaee15be-7d62-47c8-bd51-6468b83855e4 1b8d7af8-3100-4f69-9f2c-4916afd1298b g.chr16:54319405G>A ENST00000329734.3 - 2 1100 c.388C>T c.(388-390)Cgt>Tgt p.R130C NM_024336.2 NP_077312.2 P78415 IRX3_HUMAN iroquois homeobox 3 130 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1) 14 TTCTTGGGACGGGACGGGTCC 0.677 3 28 --- --- --- --- ZNF846 162993 broad.mit.edu 37 19 9868382 9868382 + Missense_Mutation SNP T T A TCGA-2A-A8W1-01A-11D-A377-08 TCGA-2A-A8W1-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaee15be-7d62-47c8-bd51-6468b83855e4 1b8d7af8-3100-4f69-9f2c-4916afd1298b g.chr19:9868382T>A ENST00000397902.2 - 6 1784 c.1371A>T c.(1369-1371)aaA>aaT p.K457N ZNF846_ENST00000592859.1_Intron|ZNF846_ENST00000588267.1_Intron|ZNF846_ENST00000586293.1_3'UTR NM_001077624.1 NP_001071092.1 Q147U1 ZN846_HUMAN zinc finger protein 846 457 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 22 GAGCAAATGCTTTACCGCATT 0.438 6 87 --- --- --- --- RP11-305B6.3 0 broad.mit.edu 37 14 44589519 44589520 + RNA DEL TC TC - TCGA-2A-A8W1-01A-11D-A377-08 TCGA-2A-A8W1-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaee15be-7d62-47c8-bd51-6468b83855e4 1b8d7af8-3100-4f69-9f2c-4916afd1298b g.chr14:44589519_44589520delTC ENST00000553827.1 - 0 69 TTGGAGTTCTTCAGCAGATTCT 0.391 17 34 --- --- --- ---