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 ZXDA 7789 broad.mit.edu 37 X 57936620 57936620 + Missense_Mutation SNP G G C rs151072020 TCGA-DJ-A4UP-01A-11D-A257-08 TCGA-DJ-A4UP-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4bf1b6-4123-4c18-987a-f814b572a708 eaf8980b-fe88-4642-ba40-8b94e462e275 g.chrX:57936620G>C ENST00000358697.4 - 1 447 c.235C>G c.(235-237)Cat>Gat p.H79D NM_007156.4 NP_009087.1 P98168 ZXDA_HUMAN zinc finger, X-linked, duplicated A 79 positive regulation of transcription, DNA-dependent nucleus C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1) 37 CTAGGTTGATGGGGCCTCGGC 0.756000 3 23 0 0 1 0 0 NDUFAF2 91942 broad.mit.edu 37 5 60241050 60241050 + Translation_Start_Site SNP G G A TCGA-DJ-A4UP-01A-11D-A257-08 TCGA-DJ-A4UP-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4bf1b6-4123-4c18-987a-f814b572a708 eaf8980b-fe88-4642-ba40-8b94e462e275 g.chr5:60241050G>A ENST00000296597.5 + 0 95 NDUFAF2_ENST00000511107.1_De_novo_Start_OutOfFrame NM_174889.4 NP_777549.1 Q8N183 MIMIT_HUMAN NADH dehydrogenase (ubiquinone) complex I, assembly factor 2 membrane|mitochondrion electron carrier activity|NADH dehydrogenase (ubiquinone) activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1) 6 Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237) TGCGGGTCCCGCTGCTGGCAG 0.632000 3 14 0 0 1 0 0 DHX16 8449 broad.mit.edu 37 6 30633345 30633345 + Missense_Mutation SNP C C G TCGA-DJ-A4UP-01A-11D-A257-08 TCGA-DJ-A4UP-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4bf1b6-4123-4c18-987a-f814b572a708 eaf8980b-fe88-4642-ba40-8b94e462e275 g.chr6:30633345C>G ENST00000376442.3 - 5 1027 c.832G>C c.(832-834)Gat>Cat p.D278H NM_001164239.1|NM_003587.4 NP_001157711.1|NP_003578.2 O60231 DHX16_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 16 278 mRNA processing|RNA splicing nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity kidney(2)|ovary(2) 4 CGGGCGAGATCCCGCACTCGC 0.632000 12 58 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664606 22664606 + RNA SNP A A G TCGA-DJ-A4UP-01A-11D-A257-08 TCGA-DJ-A4UP-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4bf1b6-4123-4c18-987a-f814b572a708 eaf8980b-fe88-4642-ba40-8b94e462e275 g.chr22:22664606A>G ENST00000426066.1 + 0 787 NR_027293.1 GTCTTCATGCAAACTTGGTAT 0.398000 3 26 0 0 1 0 0 ADAMDEC1 27299 broad.mit.edu 37 8 24250806 24250806 + Missense_Mutation SNP T T C TCGA-DJ-A4UP-01A-11D-A257-08 TCGA-DJ-A4UP-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4bf1b6-4123-4c18-987a-f814b572a708 eaf8980b-fe88-4642-ba40-8b94e462e275 g.chr8:24250806T>C ENST00000256412.4 + 3 459 c.239T>C c.(238-240)aTg>aCg p.M80T RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000522298.1_Start_Codon_SNP_p.M1T|RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000538205.1_Start_Codon_SNP_p.M1T NM_014479.3 NP_055294.1 O15204 ADEC1_HUMAN ADAM-like, decysin 1 80 integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis extracellular region|integral to membrane integrin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1) 9 Prostate(55;0.0181) Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168) CAATATCAGATGATCTTAAAT 0.303000 6 53 0 0 1 0 0 LIN37 55957 broad.mit.edu 37 19 36245363 36245363 + Silent SNP C C T TCGA-DJ-A4UP-01A-11D-A257-08 TCGA-DJ-A4UP-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4bf1b6-4123-4c18-987a-f814b572a708 eaf8980b-fe88-4642-ba40-8b94e462e275 g.chr19:36245363C>T ENST00000301159.9 + 9 1093 c.729C>T c.(727-729)taC>taT p.Y243Y AC002398.9_ENST00000591613.2_3'UTR NM_019104.2 NP_061977.1 Q96GY3 LIN37_HUMAN lin-37 homolog (C. elegans) 243 protein binding large_intestine(1)|lung(5) 6 all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GAGAGATGTACGAACGACAGT 0.577000 6 25 0 0 1 0 0 COTL1 23406 broad.mit.edu 37 16 84600451 84600451 + Nonstop_Mutation SNP T T G TCGA-DJ-A4UP-01A-11D-A257-08 TCGA-DJ-A4UP-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4bf1b6-4123-4c18-987a-f814b572a708 eaf8980b-fe88-4642-ba40-8b94e462e275 g.chr16:84600451T>G ENST00000262428.4 - 4 591 c.429A>C c.(427-429)taA>taC p.*143Y COTL1_ENST00000567278.1_5'UTR|COTL1_ENST00000564057.1_Nonstop_Mutation_p.*74Y NM_021149.2 NP_066972.1 Q14019 COTL1_HUMAN coactosin-like 1 (Dictyostelium) 0 cytoplasm|cytoskeleton actin binding|enzyme binding endometrium(1)|large_intestine(1)|liver(1)|lung(2)|skin(1) 6 GGGGCTGGGGTTACTCCGTCT 0.622000 7 18 0 0 1 0 0 ANKRD30B 374860 broad.mit.edu 37 18 14779969 14779969 + Missense_Mutation SNP C C G rs9675365 by1000genomes TCGA-DJ-A4UP-01A-11D-A257-08 TCGA-DJ-A4UP-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4bf1b6-4123-4c18-987a-f814b572a708 eaf8980b-fe88-4642-ba40-8b94e462e275 g.chr18:14779969C>G ENST00000358984.4 + 11 1611 c.1431C>G c.(1429-1431)ttC>ttG p.F477L ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Missense_Mutation_p.F477L NM_001145029.1 NP_001138501.1 Q9BXX2 AN30B_HUMAN ankyrin repeat domain 30B 477 F -> L (in dbSNP:rs9675365). p.F477L(2) breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1) 22 ATCAGATGTTCCCATCAGAAT 0.279000 7 13 0 0 1 0 0 ZNF74 7625 broad.mit.edu 37 22 20759722 20759722 + Missense_Mutation SNP G G A TCGA-DJ-A4UP-01A-11D-A257-08 TCGA-DJ-A4UP-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4bf1b6-4123-4c18-987a-f814b572a708 eaf8980b-fe88-4642-ba40-8b94e462e275 g.chr22:20759722G>A ENST00000403682.3 + 4 814 c.313G>A c.(313-315)Ggc>Agc p.G105S ZNF74_ENST00000405993.1_Silent_p.P101P|ZNF74_ENST00000400451.2_Silent_p.P133P|ZNF74_ENST00000356671.5_Silent_p.P133P|ZNF74_ENST00000357502.5_Missense_Mutation_p.G139S NM_001256523.1 NP_001243452.1 Q16587 ZNF74_HUMAN zinc finger protein 74 0 KRAB. multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent actin cytoskeleton|nucleus DNA binding|RNA binding|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 19 Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219) Lung SC(17;0.0262)|all_lung(157;0.248) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) AAGAAGAACCGGCCCAGGAGC 0.627000 14 59 0 0 1 0 0 ZXDA 7789 broad.mit.edu 37 X 57936633 57936633 + Missense_Mutation SNP G G C TCGA-DJ-A4UP-01A-11D-A257-08 TCGA-DJ-A4UP-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4bf1b6-4123-4c18-987a-f814b572a708 eaf8980b-fe88-4642-ba40-8b94e462e275 g.chrX:57936633G>C ENST00000358697.4 - 1 434 c.222C>G c.(220-222)ttC>ttG p.F74L NM_007156.4 NP_009087.1 P98168 ZXDA_HUMAN zinc finger, X-linked, duplicated A 74 positive regulation of transcription, DNA-dependent nucleus C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1) 37 GCCTCGGCGCGAACAGGCTTG 0.761000 3 21 0 0 1 0 0 HLA-A 3105 broad.mit.edu 37 6 29910693 29910693 + Missense_Mutation SNP A A G rs41559716 by1000genomes TCGA-DJ-A4UP-01A-11D-A257-08 TCGA-DJ-A4UP-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4bf1b6-4123-4c18-987a-f814b572a708 eaf8980b-fe88-4642-ba40-8b94e462e275 g.chr6:29910693A>G ENST00000396634.1 + 4 574 c.233A>G c.(232-234)cAg>cGg p.Q78R HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R|HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R P30443 1A01_HUMAN major histocompatibility complex, class I, A 78 Alpha-1. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity p.Q78R(2) central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 30 TGGATAGAGCAGGAGGGGCCG 0.657000 Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of Multiple Myeloma(9;0.094) 3 13 0 0 1 0 0 KCND3 3752 broad.mit.edu 37 1 112318869 112318869 + Missense_Mutation SNP C C T rs149344567 TCGA-DJ-A4UP-01A-11D-A257-08 TCGA-DJ-A4UP-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4bf1b6-4123-4c18-987a-f814b572a708 eaf8980b-fe88-4642-ba40-8b94e462e275 g.chr1:112318869C>T ENST00000369697.1 - 6 1810 c.1741G>A c.(1741-1743)Gga>Aga p.G581R KCND3_ENST00000302127.4_Missense_Mutation_p.G581R|KCND3_ENST00000315987.2_Missense_Mutation_p.G600R Q9UK17 KCND3_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 3 600 sarcolemma|voltage-gated potassium channel complex A-type (transient outward) potassium channel activity|metal ion binding NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 49 all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05) all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231) GGTCTCAGTCCGTCGTCTGCT 0.562000 4 41 0 0 1 0 0 PMS2P3 0 broad.mit.edu 37 7 75142142 75142142 + RNA DEL A A - rs35519730 TCGA-DJ-A4UP-01A-11D-A257-08 TCGA-DJ-A4UP-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4bf1b6-4123-4c18-987a-f814b572a708 eaf8980b-fe88-4642-ba40-8b94e462e275 g.chr7:75142142delA ENST00000418756.1 - 0 991 NR_028059.1 lung(1) 1 tctcaaaaagaaaaaaaaaaa 0.418 3 3 --- --- --- --- JAM2 58494 broad.mit.edu 37 21 27012164 27012166 + In_Frame_Del DEL CTG CTG - TCGA-DJ-A4UP-01A-11D-A257-08 TCGA-DJ-A4UP-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ee4bf1b6-4123-4c18-987a-f814b572a708 eaf8980b-fe88-4642-ba40-8b94e462e275 g.chr21:27012164_27012166delCTG ENST00000480456.1 + 1 581_583 c.31_33delCTG c.(31-33)del p.L14del JAM2_ENST00000400532.1_In_Frame_Del_p.L14del|JAM2_ENST00000425221.2_In_Frame_Del_p.L14del|JAM2_ENST00000312957.5_In_Frame_Del_p.L14del NM_001270407.1|NM_021219.3 NP_001257336.1|NP_067042.1 P57087 JAM2_HUMAN junctional adhesion molecule 2 14 blood coagulation|cell-cell adhesion|leukocyte migration integral to plasma membrane|tight junction endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1) 19 CCGCCTCCTCCTGCTGCTGCTGC 0.724 2 4 --- --- --- ---