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 KCNH3 23416 broad.mit.edu 37 12 49938149 49938149 + Silent SNP C C T TCGA-QR-A70D-01A-11D-A35D-08 TCGA-QR-A70D-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff003cbc-050a-4017-9004-2e05b1f5c6e0 01a5d489-f653-4bd8-ad68-d244e1bae50a g.chr12:49938149C>T ENST00000257981.6 + 7 1433 c.1173C>T c.(1171-1173)tcC>tcT p.S391S NM_012284.1 NP_036416.1 Q9ULD8 KCNH3_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 3 391 regulation of transcription, DNA-dependent integral to membrane two-component sensor activity|voltage-gated potassium channel activity NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 36 GCAGCGAATCCGAGCTGCCTG 0.612000 14 19 0 0 1 0 0 MYH14 79784 broad.mit.edu 37 19 50720881 50720881 + Missense_Mutation SNP G G A TCGA-QR-A70D-01A-11D-A35D-08 TCGA-QR-A70D-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff003cbc-050a-4017-9004-2e05b1f5c6e0 01a5d489-f653-4bd8-ad68-d244e1bae50a g.chr19:50720881G>A ENST00000440075.2 + 3 462 c.415G>A c.(415-417)Ggc>Agc p.G139S MYH14_ENST00000262269.8_Missense_Mutation_p.G139S|MYH14_ENST00000596571.1_Missense_Mutation_p.G139S|MYH14_ENST00000601313.1_Missense_Mutation_p.G139S|MYH14_ENST00000425460.1_Missense_Mutation_p.G139S|MYH14_ENST00000598205.1_Missense_Mutation_p.G139S|MYH14_ENST00000376970.2_Missense_Mutation_p.G139S Q7Z406 MYH14_HUMAN myosin, heavy chain 14, non-muscle 139 Myosin head-like. axon guidance|regulation of cell shape myosin complex actin binding|ATP binding|calmodulin binding|motor activity central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 46 all_neural(266;0.0571)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195) GACGTACTCCGGCCTTTTCTG 0.602000 28 50 0 0 1 0 0 ZC3H7B 23264 broad.mit.edu 37 22 41735127 41735127 + Missense_Mutation SNP G G A TCGA-QR-A70D-01A-11D-A35D-08 TCGA-QR-A70D-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff003cbc-050a-4017-9004-2e05b1f5c6e0 01a5d489-f653-4bd8-ad68-d244e1bae50a g.chr22:41735127G>A ENST00000352645.4 + 9 1005 c.748G>A c.(748-750)Gac>Aac p.D250N ZC3H7B_ENST00000351589.4_Missense_Mutation_p.D250N NM_017590.4 NP_060060.3 Q9UGR2 Z3H7B_HUMAN zinc finger CCCH-type containing 7B 266 interspecies interaction between organisms nucleus nucleic acid binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 38 CCCCAGCACCGACAGCCTGGA 0.662000 25 40 0 0 1 0 0 SLC52A1 55065 broad.mit.edu 37 17 4937900 4937900 + Translation_Start_Site SNP A A G TCGA-QR-A70D-01A-11D-A35D-08 TCGA-QR-A70D-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff003cbc-050a-4017-9004-2e05b1f5c6e0 01a5d489-f653-4bd8-ad68-d244e1bae50a g.chr17:4937900A>G ENST00000512825.2 - 2 1413 c.2T>C c.(1-3)aTg>aCg p.M1T SLC52A1_ENST00000254853.5_Start_Codon_SNP_p.M1T|SLC52A1_ENST00000424747.1_Start_Codon_SNP_p.M1T Q9NWF4 RFT_HUMAN solute carrier family 52 (riboflavin transporter), member 1 1 integral to plasma membrane receptor activity|riboflavin transporter activity GGGTGCTGCCATTCAGCCCAA 0.597000 14 16 0 0 1 0 0 PIK3CB 5291 broad.mit.edu 37 3 138382751 138382751 + Silent SNP G G A TCGA-QR-A70D-01A-11D-A35D-08 TCGA-QR-A70D-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff003cbc-050a-4017-9004-2e05b1f5c6e0 01a5d489-f653-4bd8-ad68-d244e1bae50a g.chr3:138382751G>A ENST00000477593.1 - 20 2866 c.2793C>T c.(2791-2793)ggC>ggT p.G931G PIK3CB_ENST00000544716.1_Silent_p.G382G|PIK3CB_ENST00000289153.2_Silent_p.G931G P42338 PK3CB_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta 931 PI3K/PI4K. activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 41 AGCTCACCTGGCCAGTTTTTT 0.433000 3 22 0 0 1 0 0 PRKACA 5566 broad.mit.edu 37 19 14208594 14208594 + Silent SNP G G A TCGA-QR-A70D-01A-11D-A35D-08 TCGA-QR-A70D-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff003cbc-050a-4017-9004-2e05b1f5c6e0 01a5d489-f653-4bd8-ad68-d244e1bae50a g.chr19:14208594G>A ENST00000308677.4 - 6 724 c.528C>T c.(526-528)gaC>gaT p.D176D PRKACA_ENST00000590853.1_Intron|PRKACA_ENST00000589994.1_Silent_p.D168D|PRKACA_ENST00000350356.3_5'UTR NM_002730.3 NP_002721.1 P17612 KAPCA_HUMAN protein kinase, cAMP-dependent, catalytic, alpha 176 Protein kinase. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|regulation of insulin secretion|transmembrane transport|triglyceride catabolic process|water transport cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane ATP binding|cAMP-dependent protein kinase activity|cAMP-dependent protein kinase inhibitor activity|protein kinase binding central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1) 16 AGCCCTGCTGGTCAATGAGCA 0.612000 19 31 0 0 1 0 0 IPO8 10526 broad.mit.edu 37 12 30818753 30818753 + Silent SNP A A G TCGA-QR-A70D-01A-11D-A35D-08 TCGA-QR-A70D-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff003cbc-050a-4017-9004-2e05b1f5c6e0 01a5d489-f653-4bd8-ad68-d244e1bae50a g.chr12:30818753A>G ENST00000256079.4 - 12 1586 c.1248T>C c.(1246-1248)tgT>tgC p.C416C IPO8_ENST00000544829.1_Silent_p.C211C NM_006390.3 NP_006381.2 O15397 IPO8_HUMAN importin 8 416 intracellular protein transport|signal transduction cytoplasm|nucleus protein transporter activity|Ran GTPase binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2) 52 all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) GGATTTGATAACAGAATGCCA 0.378000 17 26 0 0 1 0 0 COL4A5 1287 broad.mit.edu 37 X 107936078 107936078 + Silent SNP C C T TCGA-QR-A70D-01A-11D-A35D-08 TCGA-QR-A70D-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff003cbc-050a-4017-9004-2e05b1f5c6e0 01a5d489-f653-4bd8-ad68-d244e1bae50a g.chrX:107936078C>T ENST00000328300.6 + 50 4873 c.4629C>T c.(4627-4629)taC>taT p.Y1543Y COL4A5_ENST00000361603.2_Silent_p.Y1537Y NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 1537 Collagen IV NC1. axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 ACTATTCTTACTGGCTCTCTA 0.478000 Alport syndrome with Diffuse Leiomyomatosis 29 43 0 0 1 0 0 TAF1 6872 broad.mit.edu 37 X 70603867 70603867 + Missense_Mutation SNP C C T TCGA-QR-A70D-01A-11D-A35D-08 TCGA-QR-A70D-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff003cbc-050a-4017-9004-2e05b1f5c6e0 01a5d489-f653-4bd8-ad68-d244e1bae50a g.chrX:70603867C>T ENST00000449580.1 + 13 2051 c.2000C>T c.(1999-2001)aCa>aTa p.T667I TAF1_ENST00000423759.1_Missense_Mutation_p.T688I|TAF1_ENST00000276072.3_Missense_Mutation_p.T688I|TAF1_ENST00000373790.4_Missense_Mutation_p.T667I P21675 TAF1_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa 667 G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction MLL1 complex|transcription factor TFIID complex ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 124 Renal(35;0.156) all_lung(315;0.000321) TTTATGCGCACACCTCAGGAC 0.448000 26 35 0 0 1 0 0 BAZ2A 11176 broad.mit.edu 37 12 57009121 57009121 + Missense_Mutation SNP T T C TCGA-QR-A70D-01A-11D-A35D-08 TCGA-QR-A70D-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff003cbc-050a-4017-9004-2e05b1f5c6e0 01a5d489-f653-4bd8-ad68-d244e1bae50a g.chr12:57009121T>C ENST00000179765.5 - 3 606 c.407A>G c.(406-408)cAt>cGt p.H136R BAZ2A_ENST00000379441.3_Missense_Mutation_p.H138R|BAZ2A_ENST00000551812.1_Missense_Mutation_p.H138R|BAZ2A_ENST00000549884.1_Missense_Mutation_p.H136R Q9UIF9 BAZ2A_HUMAN bromodomain adjacent to zinc finger domain, 2A 138 chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent chromatin silencing complex|nucleolus|rDNA heterochromatin DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1) 31 GTTAGTGTTATGACTTGGGGA 0.547000 5 41 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105417094 105417094 + Missense_Mutation SNP G G T TCGA-QR-A70D-01A-11D-A35D-08 TCGA-QR-A70D-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff003cbc-050a-4017-9004-2e05b1f5c6e0 01a5d489-f653-4bd8-ad68-d244e1bae50a g.chr14:105417094G>T ENST00000333244.5 - 7 4813 c.4694C>A c.(4693-4695)cCt>cAt p.P1565H AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 1565 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CTCGGACACAGGGCCCTCTGG 0.607000 4 145 0.150653 0.150653 1 1 0 RFX3 5991 broad.mit.edu 37 9 3263080 3263080 + Missense_Mutation SNP G G A TCGA-QR-A70D-01A-11D-A35D-08 TCGA-QR-A70D-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff003cbc-050a-4017-9004-2e05b1f5c6e0 01a5d489-f653-4bd8-ad68-d244e1bae50a g.chr9:3263080G>A ENST00000382004.3 - 14 1771 c.1460C>T c.(1459-1461)gCc>gTc p.A487V RFX3_ENST00000302303.1_Missense_Mutation_p.A487V|RFX3_ENST00000358730.2_Missense_Mutation_p.A487V NM_134428.1 NP_602304.1 P48380 RFX3_HUMAN regulatory factor X, 3 (influences HLA class II expression) 487 cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion nuclear chromatin protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337) ACTTACAGCGGCAACCTGTAA 0.448000 3 40 0 0 1 0 0 PLCD4 84812 broad.mit.edu 37 2 219483500 219483500 + Frame_Shift_Del DEL C C - TCGA-QR-A70D-01A-11D-A35D-08 TCGA-QR-A70D-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff003cbc-050a-4017-9004-2e05b1f5c6e0 01a5d489-f653-4bd8-ad68-d244e1bae50a g.chr2:219483500delC ENST00000450993.2 + 4 719 c.380delC c.(379-381)acfs p.T127fs PLCD4_ENST00000417849.1_Frame_Shift_Del_p.T127fs|PLCD4_ENST00000432688.1_Frame_Shift_Del_p.T127fs NM_032726.3 NP_116115.1 Q9BRC7 PLCD4_HUMAN phospholipase C, delta 4 127 intracellular signal transduction|lipid catabolic process endoplasmic reticulum|membrane|nucleus calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3) 23 Renal(207;0.0915) Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) GATCTTGTCACCAGCATGGAC 0.602 2 4 --- --- --- --- TRAV24 28659 broad.mit.edu 37 14 22573825 22573826 + RNA INS - - A rs33991650 by1000genomes TCGA-QR-A70D-01A-11D-A35D-08 TCGA-QR-A70D-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff003cbc-050a-4017-9004-2e05b1f5c6e0 01a5d489-f653-4bd8-ad68-d244e1bae50a g.chr14:22573825_22573826insA ENST00000390453.1 + 0 55 GACTCTTTTTTAAAAAAACAGG 0.450 2 4 --- --- --- ---