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 TPTE2P2 644623 broad.mit.edu 37 13 52864028 52864028 + RNA SNP C C T rs138483057 by1000genomes TCGA-QT-A5XM-01A-11D-A35D-08 TCGA-QT-A5XM-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b417a8d-25d1-49e0-8de4-d9e58e0af2c0 6e73178e-5d94-4332-b642-74b6c3da2990 g.chr13:52864028C>T ENST00000451298.1 - 0 141 RP11-64P12.8_ENST00000606031.1_RNA TAGAATGATACTCCAAAGGAA 0.313000 3 31 0 0 1 0 0 ANXA5 308 broad.mit.edu 37 4 122590847 122590847 + Missense_Mutation SNP T T G TCGA-QT-A5XM-01A-11D-A35D-08 TCGA-QT-A5XM-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b417a8d-25d1-49e0-8de4-d9e58e0af2c0 6e73178e-5d94-4332-b642-74b6c3da2990 g.chr4:122590847T>G ENST00000296511.5 - 12 1098 c.813A>C c.(811-813)agA>agC p.R271S ANXA5_ENST00000515017.1_Missense_Mutation_p.R171S|ANXA5_ENST00000501272.2_Missense_Mutation_p.R211S NM_001154.3 NP_001145.1 P08758 ANXA5_HUMAN annexin A5 271 anti-apoptosis|blood coagulation|negative regulation of coagulation|signal transduction cytoplasm calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity NS(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1) 15 AAACCATGACTCTGATGAGGG 0.373000 32 75 0 0 1 0 0 H2BFWT 158983 broad.mit.edu 37 X 103267771 103267771 + Silent SNP G G A rs139759218 TCGA-QT-A5XM-01A-11D-A35D-08 TCGA-QT-A5XM-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b417a8d-25d1-49e0-8de4-d9e58e0af2c0 6e73178e-5d94-4332-b642-74b6c3da2990 g.chrX:103267771G>A ENST00000217926.5 - 1 488 c.462C>T c.(460-462)gcC>gcT p.A154A NM_001002916.3 NP_001002916.2 Q7Z2G1 H2BWT_HUMAN H2B histone family, member W, testis-specific 154 nucleosome assembly nuclear membrane|nucleosome DNA binding breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1) 16 CTTCGGACTCGGCGAGCTTGC 0.662000 9 24 0 0 1 0 0 DPY19L2P1 554236 broad.mit.edu 37 7 35130010 35130010 + RNA SNP T T C TCGA-QT-A5XM-01A-11D-A35D-08 TCGA-QT-A5XM-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b417a8d-25d1-49e0-8de4-d9e58e0af2c0 6e73178e-5d94-4332-b642-74b6c3da2990 g.chr7:35130010T>C ENST00000436258.1 - 0 3359 TCCTACTTCTTTGGCAGATTT 0.289000 6 239 0 0 1 0 0 MKI67 4288 broad.mit.edu 37 10 129904639 129904639 + Missense_Mutation SNP C C T TCGA-QT-A5XM-01A-11D-A35D-08 TCGA-QT-A5XM-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b417a8d-25d1-49e0-8de4-d9e58e0af2c0 6e73178e-5d94-4332-b642-74b6c3da2990 g.chr10:129904639C>T ENST00000368654.3 - 13 5840 c.5465G>A c.(5464-5466)cGt>cAt p.R1822H MKI67_ENST00000368653.3_Missense_Mutation_p.R1462H NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 1822 16 X 122 AA approximate repeats. cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) CTTTTCCTTACGAGTTTGTAG 0.473000 7 161 0 0 1 0 0 EIF3L 51386 broad.mit.edu 37 22 38273774 38273774 + Missense_Mutation SNP C C T TCGA-QT-A5XM-01A-11D-A35D-08 TCGA-QT-A5XM-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b417a8d-25d1-49e0-8de4-d9e58e0af2c0 6e73178e-5d94-4332-b642-74b6c3da2990 g.chr22:38273774C>T ENST00000412331.2 + 11 1753 c.1171C>T c.(1171-1173)Cgg>Tgg p.R391W EIF3L_ENST00000406934.1_Missense_Mutation_p.R293W|EIF3L_ENST00000381683.6_Missense_Mutation_p.R343W NM_016091.3 NP_057175.1 Q9Y262 EIF3L_HUMAN eukaryotic translation initiation factor 3, subunit L 391 eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 CCTCCAGCTGCGGGAGAAATA 0.512000 22 27 0 0 1 0 0 RET 5979 broad.mit.edu 37 10 43617416 43617416 + Missense_Mutation SNP T T C rs74799832 TCGA-QT-A5XM-01A-11D-A35D-08 TCGA-QT-A5XM-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b417a8d-25d1-49e0-8de4-d9e58e0af2c0 6e73178e-5d94-4332-b642-74b6c3da2990 g.chr10:43617416T>C ENST00000355710.3 + 16 2985 c.2753T>C c.(2752-2754)aTg>aCg p.M918T RET_ENST00000340058.5_Missense_Mutation_p.M918T NM_020975.4 NP_066124.1 P07949 RET_HUMAN ret proto-oncogene 918 Protein kinase. M -> T (in RADYS, MEN2B and MTC; sporadic form; somatic mutation). homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development integral to membrane ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity p.M918T(247) CCDC6/RET(4)|KIF5B/RET(79) NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1) 607 Ovarian(717;0.0423) Sunitinib(DB01268) GTTAAATGGATGGCAATTGAA 0.443000 1 """T, Mis, N, F""" """H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6""" """medullary thyroid, papillary thyroid, pheochromocytoma, NSCLC""" """medullary thyroid, papillary thyroid, pheochromocytoma""" Hirschsprung disease Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma 39 109 0 0 1 0 0 FRG1BP 284802 broad.mit.edu 37 20 29633900 29633900 + Missense_Mutation SNP A A G rs60081496 by1000genomes TCGA-QT-A5XM-01A-11D-A35D-08 TCGA-QT-A5XM-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b417a8d-25d1-49e0-8de4-d9e58e0af2c0 6e73178e-5d94-4332-b642-74b6c3da2990 g.chr20:29633900A>G ENST00000278882.3 + 9 919 c.539A>G c.(538-540)gAa>gGa p.E180G FRG1B_ENST00000358464.4_Missense_Mutation_p.E180G p.E180G(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TAAACAAGAGAACCAAATTGA 0.264000 6 73 0 0 1 0 0 C19orf43 79002 broad.mit.edu 37 19 12842217 12842217 + Missense_Mutation SNP C C T TCGA-QT-A5XM-01A-11D-A35D-08 TCGA-QT-A5XM-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b417a8d-25d1-49e0-8de4-d9e58e0af2c0 6e73178e-5d94-4332-b642-74b6c3da2990 g.chr19:12842217C>T ENST00000242784.4 - 2 481 c.364G>A c.(364-366)Ggg>Agg p.G122R C19orf43_ENST00000588213.1_Missense_Mutation_p.R114Q|C19orf43_ENST00000592273.1_Intron NM_024038.2 NP_076943.1 Q9BQ61 CS043_HUMAN chromosome 19 open reading frame 43 122 endometrium(2)|large_intestine(2) 4 AGTTTGTTCCCGCCTCTGCGT 0.597000 4 46 0 0 1 0 0 VARS2 57176 broad.mit.edu 37 6 30893361 30893361 + Silent SNP C C T TCGA-QT-A5XM-01A-11D-A35D-08 TCGA-QT-A5XM-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b417a8d-25d1-49e0-8de4-d9e58e0af2c0 6e73178e-5d94-4332-b642-74b6c3da2990 g.chr6:30893361C>T ENST00000321897.5 + 27 3458 c.2826C>T c.(2824-2826)ttC>ttT p.F942F VARS2_ENST00000476162.1_3'UTR|VARS2_ENST00000541562.1_Silent_p.F972F|VARS2_ENST00000416670.2_Silent_p.F942F|VARS2_ENST00000542001.1_Silent_p.F802F Q5ST30 SYVM_HUMAN valyl-tRNA synthetase 2, mitochondrial 942 valyl-tRNA aminoacylation mitochondrion ATP binding|valine-tRNA ligase activity central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1) 46 AGGGCCTCTTCGAGGCCTTCT 0.667000 13 33 0 0 1 0 0 GLUD1P7 414212 broad.mit.edu 37 10 48968566 48968566 + RNA SNP A A G TCGA-QT-A5XM-01A-11D-A35D-08 TCGA-QT-A5XM-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b417a8d-25d1-49e0-8de4-d9e58e0af2c0 6e73178e-5d94-4332-b642-74b6c3da2990 g.chr10:48968566A>G ENST00000594520.1 + 0 723 ACAGGATAACAAACTGGAAAA 0.318000 4 26 0 0 1 0 0 GIPC2 54810 broad.mit.edu 37 1 78546456 78546456 + Missense_Mutation SNP G G A TCGA-QT-A5XM-01A-11D-A35D-08 TCGA-QT-A5XM-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b417a8d-25d1-49e0-8de4-d9e58e0af2c0 6e73178e-5d94-4332-b642-74b6c3da2990 g.chr1:78546456G>A ENST00000370759.3 + 2 531 c.338G>A c.(337-339)gGa>gAa p.G113E GIPC2_ENST00000476882.1_3'UTR NM_017655.4 NP_060125.4 Q8TF65 GIPC2_HUMAN GIPC PDZ domain containing family, member 2 113 cytoplasm endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2) 20 CATGTGAAAGGAATCGAAAAA 0.343000 3 36 0 0 1 0 0 DAZAP2 9802 broad.mit.edu 37 12 51636117 51636117 + Missense_Mutation SNP C C T TCGA-QT-A5XM-01A-11D-A35D-08 TCGA-QT-A5XM-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b417a8d-25d1-49e0-8de4-d9e58e0af2c0 6e73178e-5d94-4332-b642-74b6c3da2990 g.chr12:51636117C>T ENST00000412716.3 + 4 998 c.382C>T c.(382-384)Cca>Tca p.P128S DAZAP2_ENST00000604900.1_Intron|DAZAP2_ENST00000425012.2_Intron|DAZAP2_ENST00000549732.2_Missense_Mutation_p.P96S|DAZAP2_ENST00000549555.1_Missense_Mutation_p.S102F|DAZAP2_ENST00000551534.1_3'UTR|DAZAP2_ENST00000439799.2_Missense_Mutation_p.P46S|DAZAP2_ENST00000551313.1_Missense_Mutation_p.P68S|DAZAP2_ENST00000449723.3_Missense_Mutation_p.P106S Q15038 DAZP2_HUMAN DAZ associated protein 2 128 Pro-rich. WW domain binding haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1) 6 CTTTCAGCCTCCACCTCCTGG 0.542000 88 235 0 0 1 0 0 ESPN 83715 broad.mit.edu 37 1 6512081 6512081 + Frame_Shift_Del DEL C C - TCGA-QT-A5XM-01A-11D-A35D-08 TCGA-QT-A5XM-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b417a8d-25d1-49e0-8de4-d9e58e0af2c0 6e73178e-5d94-4332-b642-74b6c3da2990 g.chr1:6512081delC ENST00000377828.1 + 10 2418 c.2250delC c.(2248-2250)atfs p.I750fs ESPN_ENST00000416731.1_Frame_Shift_Del_p.I184fs|ESPN_ENST00000461727.1_Frame_Shift_Del_p.I184fs|ESPN_ENST00000475228.1_3'UTR NM_031475.2 NP_113663.2 B1AK53 ESPN_HUMAN espin 750 sensory perception of sound brush border|cytoplasm|filamentous actin|stereocilium actin filament binding|SH3 domain binding NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1) 17 Ovarian(185;0.0386)|all_lung(157;0.154) all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392) Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419) GCCGGCCCATCCCCGAGTGGA 0.672 2 4 --- --- --- --- ECHDC2 55268 broad.mit.edu 37 1 53387326 53387326 + Frame_Shift_Del DEL A A - TCGA-QT-A5XM-01A-11D-A35D-08 TCGA-QT-A5XM-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b417a8d-25d1-49e0-8de4-d9e58e0af2c0 6e73178e-5d94-4332-b642-74b6c3da2990 g.chr1:53387326delA ENST00000371522.4 - 1 113 c.20delT c.(19-21)ccfs p.L8fs ECHDC2_ENST00000541281.1_5'UTR|ECHDC2_ENST00000536120.1_5'UTR|ECHDC2_ENST00000358358.5_Frame_Shift_Del_p.L8fs NM_001198961.1 NP_001185890.1 Q86YB7 ECHD2_HUMAN enoyl CoA hydratase domain containing 2 8 fatty acid metabolic process mitochondrion lyase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1) 12 GGGGCGCAGGAGGCACAGAAC 0.736 2 4 --- --- --- --- AC027612.3 0 broad.mit.edu 37 2 91887905 91887906 + RNA INS - - T TCGA-QT-A5XM-01A-11D-A35D-08 TCGA-QT-A5XM-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b417a8d-25d1-49e0-8de4-d9e58e0af2c0 6e73178e-5d94-4332-b642-74b6c3da2990 g.chr2:91887905_91887906insT ENST00000436174.1 - 0 540 GCTATTTTCCATTTTTTTTTTT 0.292 9 39 --- --- --- --- TNS1 7145 broad.mit.edu 37 2 218712887 218712889 + In_Frame_Del DEL GCT GCT - TCGA-QT-A5XM-01A-11D-A35D-08 TCGA-QT-A5XM-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b417a8d-25d1-49e0-8de4-d9e58e0af2c0 6e73178e-5d94-4332-b642-74b6c3da2990 g.chr2:218712887_218712889delGCT ENST00000171887.4 - 17 2428_2430 c.1976_1978delAGC c.(1975-1980)cct>c p.QP659del TNS1_ENST00000419504.1_In_Frame_Del_p.QP659del|TNS1_ENST00000430930.1_In_Frame_Del_p.QP659del NM_022648.4 NP_072174.3 Q9HBL0 TENS1_HUMAN tensin 1 659 Gln-rich. cytoplasm|cytoskeleton|focal adhesion actin binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) GGTGGGCGAGgctgctgctgctg 0.660 4 6 --- --- --- --- RP11-254I22.1 0 broad.mit.edu 37 5 95414786 95414787 + RNA INS - - TAAAA rs80243332 by1000genomes TCGA-QT-A5XM-01A-11D-A35D-08 TCGA-QT-A5XM-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b417a8d-25d1-49e0-8de4-d9e58e0af2c0 6e73178e-5d94-4332-b642-74b6c3da2990 g.chr5:95414786_95414787insTAAAA ENST00000507997.1 + 0 87 CTD-2337A12.1_ENST00000502645.2_RNA|CTD-2337A12.1_ENST00000511775.1_RNA acccatgcacttaaagttaaaa 0.361 5 4 --- --- --- ---