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 ZBTB17 7709 broad.mit.edu 37 1 16274882 16274882 + Missense_Mutation SNP C C A TCGA-EJ-5503-01A-01D-1576-08 TCGA-EJ-5503-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c002f7-e972-421a-b32d-7dd675d81931 0799b439-9364-4606-a024-7f100a249f53 g.chr1:16274882C>A ENST00000375733.2 - 3 347 c.109G>T c.(109-111)Gct>Tct p.A37S ZBTB17_ENST00000375743.4_Missense_Mutation_p.A37S|ZBTB17_ENST00000537142.1_Intron|ZBTB17_ENST00000448462.2_Missense_Mutation_p.A37S|ZBTB17_ENST00000479282.1_5'UTR Q13105 ZBT17_HUMAN zinc finger and BTB domain containing 17 37 BTB. negative regulation of cell cycle nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.A37S(1) breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2) 15 Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649) GCTTTATGAGCCTTAAAGTGA 0.572 7 106 --- --- --- --- TCF19 6941 broad.mit.edu 37 6 31127393 31127393 + Missense_Mutation SNP G G T TCGA-EJ-5503-01A-01D-1576-08 TCGA-EJ-5503-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c002f7-e972-421a-b32d-7dd675d81931 0799b439-9364-4606-a024-7f100a249f53 g.chr6:31127393G>T ENST00000376257.3 + 2 901 c.147G>T c.(145-147)gaG>gaT p.E49D TCF19_ENST00000376255.4_Missense_Mutation_p.E49D NM_007109.2 NP_009040.2 Q9Y242 TCF19_HUMAN transcription factor 19 49 FHA. cell proliferation|regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding p.E49D(1) kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1) 9 CCCAGCAGGAGCCTGGCCTCA 0.662 3 46 --- --- --- --- ZNF212 7988 broad.mit.edu 37 7 148947631 148947631 + Missense_Mutation SNP G G A TCGA-EJ-5503-01A-01D-1576-08 TCGA-EJ-5503-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c002f7-e972-421a-b32d-7dd675d81931 0799b439-9364-4606-a024-7f100a249f53 g.chr7:148947631G>A ENST00000335870.2 + 2 534 c.406G>A c.(406-408)Gcc>Acc p.A136T NM_012256.3 NP_036388.2 Q9UDV6 ZN212_HUMAN zinc finger protein 212 136 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|identical protein binding|zinc ion binding p.A136T(1) endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1) 9 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00171) CAAGGGGGAGGCCCCCAAGGT 0.557 14 212 --- --- --- --- INS-IGF2 723961 broad.mit.edu 37 11 2182081 2182081 + Silent SNP G G A TCGA-EJ-5503-01A-01D-1576-08 TCGA-EJ-5503-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c002f7-e972-421a-b32d-7dd675d81931 0799b439-9364-4606-a024-7f100a249f53 g.chr11:2182081G>A ENST00000397270.1 - 2 179 c.121C>T c.(121-123)Cta>Tta p.L41L INS_ENST00000397262.1_Silent_p.L41L|INS_ENST00000250971.3_Silent_p.L41L|INS_ENST00000381330.4_Silent_p.L41L|INS_ENST00000512523.1_Silent_p.L41L NM_001042376.2 NP_001035835.1 Q1WM24 Q1WM24_HUMAN 41 glucose metabolic process extracellular region hormone activity p.L41L(2) haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1) 5 all_epithelial(84;0.00018)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24) Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239) BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.0832)|Lung(200;0.156) CCGCACACTAGGTAGAGAGCT 0.662 4 91 --- --- --- --- OR4D5 219875 broad.mit.edu 37 11 123810566 123810566 + Missense_Mutation SNP G G T TCGA-EJ-5503-01A-01D-1576-08 TCGA-EJ-5503-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c002f7-e972-421a-b32d-7dd675d81931 0799b439-9364-4606-a024-7f100a249f53 g.chr11:123810566G>T ENST00000307033.2 + 1 317 c.243G>T c.(241-243)atG>atT p.M81I NM_001001965.1 NP_001001965.1 Q8NGN0 OR4D5_HUMAN olfactory receptor, family 4, subfamily D, member 5 81 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.M81I(1) autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) CACCTAGGATGCTGGTTGACT 0.483 4 240 --- --- --- --- EML5 161436 broad.mit.edu 37 14 89083083 89083083 + Missense_Mutation SNP C C T TCGA-EJ-5503-01A-01D-1576-08 TCGA-EJ-5503-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c002f7-e972-421a-b32d-7dd675d81931 0799b439-9364-4606-a024-7f100a249f53 g.chr14:89083083C>T ENST00000554922.1 - 42 6031 c.5783G>A c.(5782-5784)tGt>tAt p.C1928Y EML5_ENST00000352093.5_Missense_Mutation_p.C1882Y|EML5_ENST00000380664.5_Missense_Mutation_p.C1920Y NM_183387.2 NP_899243.1 Q05BV3 EMAL5_HUMAN echinoderm microtubule associated protein like 5 1920 K -> R (in Ref. 2; AAI50640). cytoplasm|microtubule p.C1928Y(2) breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 TTTTTCTGGACATGGGAAGTC 0.348 4 49 --- --- --- --- MKRN3 7681 broad.mit.edu 37 15 23812105 23812105 + Missense_Mutation SNP G G T TCGA-EJ-5503-01A-01D-1576-08 TCGA-EJ-5503-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c002f7-e972-421a-b32d-7dd675d81931 0799b439-9364-4606-a024-7f100a249f53 g.chr15:23812105G>T ENST00000314520.3 + 1 1652 c.1176G>T c.(1174-1176)aaG>aaT p.K392N MKRN3_ENST00000564592.1_Missense_Mutation_p.K152N|MKRN3_ENST00000568945.1_3'UTR|MKRN3_ENST00000568252.1_Intron NM_005664.3 NP_005655.1 Q13064 MKRN3_HUMAN makorin ring finger protein 3 392 ribonucleoprotein complex ligase activity|nucleic acid binding|zinc ion binding p.K392N(1) breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14) all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012) AGCAATACAAGGAGGCAATGA 0.502 7 144 --- --- --- --- ABCA3 21 broad.mit.edu 37 16 2354107 2354107 + Missense_Mutation SNP C C T TCGA-EJ-5503-01A-01D-1576-08 TCGA-EJ-5503-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c002f7-e972-421a-b32d-7dd675d81931 0799b439-9364-4606-a024-7f100a249f53 g.chr16:2354107C>T ENST00000301732.5 - 12 2030 c.1330G>A c.(1330-1332)Gac>Aac p.D444N ABCA3_ENST00000382381.3_Missense_Mutation_p.D386N NM_001089.2 NP_001080.2 Q99758 ABCA3_HUMAN ATP-binding cassette, sub-family A (ABC1), member 3 444 response to drug integral to membrane|lamellar body|membrane fraction|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances p.D444N(1) breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1) 70 Ovarian(90;0.17) AAGTCGTCGTCCACGTTGACG 0.632 5 240 --- --- --- --- ZPBP2 124626 broad.mit.edu 37 17 38028691 38028691 + Missense_Mutation SNP T T C TCGA-EJ-5503-01A-01D-1576-08 TCGA-EJ-5503-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c002f7-e972-421a-b32d-7dd675d81931 0799b439-9364-4606-a024-7f100a249f53 g.chr17:38028691T>C ENST00000377940.3 + 4 648 c.509T>C c.(508-510)gTt>gCt p.V170A ZPBP2_ENST00000584588.1_Intron|ZPBP2_ENST00000348931.4_Missense_Mutation_p.V192A NM_198844.2 NP_942141.2 Q6X784 ZPBP2_HUMAN zona pellucida binding protein 2 192 binding of sperm to zona pellucida extracellular region p.V192A(1) kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 15 Colorectal(19;0.000442) Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171) TGCCATTCTGTTGAAATTCCA 0.303 3 126 --- --- --- ---