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 SLC12A3 0 broad.mit.edu 37 16 56938317 56938317 + Missense_Mutation SNP A A G TCGA-FC-A66V-01A-21D-A30E-08 TCGA-FC-A66V-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0108ed61-8918-4ab9-b932-05cfd43ab22e 61d23977-669f-4308-8e10-682b9c3c969d g.chr16:56938317A>G ENST00000438926.2 + 25 2923 c.2894A>G c.(2893-2895)cAg>cGg p.Q965R SLC12A3_ENST00000566786.1_Missense_Mutation_p.Q964R|SLC12A3_ENST00000262502.5_Missense_Mutation_p.Q955R|SLC12A3_ENST00000563236.1_Missense_Mutation_p.Q956R NM_000339.2|NM_001126107.1|NM_001126108.1 NP_000330.2|NP_001119579.1|NP_001119580.1 P55017 S12A3_HUMAN solute carrier family 12 (sodium/chloride transporter), member 3 956 sodium ion transmembrane transport apical plasma membrane|integral to plasma membrane|membrane fraction sodium:chloride symporter activity breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325) TCCCTTCGGCAGGTGAGGCTG 0.537000 4 136 0 0 1 0 0 EMID1 129080 broad.mit.edu 37 22 29628273 29628273 + Silent SNP C C T TCGA-FC-A66V-01A-21D-A30E-08 TCGA-FC-A66V-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0108ed61-8918-4ab9-b932-05cfd43ab22e 61d23977-669f-4308-8e10-682b9c3c969d g.chr22:29628273C>T ENST00000334018.6 + 8 893 c.705C>T c.(703-705)ggC>ggT p.G235G EMID1_ENST00000404755.3_Silent_p.G235G|EMID1_ENST00000404820.3_Silent_p.G235G|EMID1_ENST00000484039.1_3'UTR NM_001267895.1|NM_133455.3 NP_001254824.1|NP_597712.2 Q96A84 EMID1_HUMAN EMI domain containing 1 233 Collagen-like. collagen NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3) 12 GGAGCCCTGGCCGGGCTGGAG 0.697000 4 69 0 0 1 0 0 HIST1H2BK 85236 broad.mit.edu 37 6 27114417 27114417 + Missense_Mutation SNP C C T TCGA-FC-A66V-01A-21D-A30E-08 TCGA-FC-A66V-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0108ed61-8918-4ab9-b932-05cfd43ab22e 61d23977-669f-4308-8e10-682b9c3c969d g.chr6:27114417C>T ENST00000396891.4 - 1 202 c.161G>A c.(160-162)gGc>gAc p.G54D HIST1H2BK_ENST00000356950.1_Missense_Mutation_p.G54D NM_080593.2 NP_542160.1 O60814 H2B1K_HUMAN histone cluster 1, H2bk 54 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 13 AGAGGAGATGCCGGTGTCGGG 0.582000 5 293 0 0 1 0 0 FOXA1 3169 broad.mit.edu 37 14 38060702 38060702 + Silent SNP G G A TCGA-FC-A66V-01A-21D-A30E-08 TCGA-FC-A66V-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0108ed61-8918-4ab9-b932-05cfd43ab22e 61d23977-669f-4308-8e10-682b9c3c969d g.chr14:38060702G>A ENST00000250448.2 - 2 1348 c.1287C>T c.(1285-1287)taC>taT p.Y429Y FOXA1_ENST00000540786.1_Silent_p.Y396Y|FOXA1_ENST00000545425.2_5'UTR NM_004496.3 NP_004487.2 P55317 FOXA1_HUMAN forkhead box A1 429 chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development transcription factor complex DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12) 19 Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213) Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239) GBM - Glioblastoma multiforme(112;0.0222) ACGTAGAGCCGTAAGGCGAGT 0.607000 4 64 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100681963 100681963 + Silent SNP T T C TCGA-FC-A66V-01A-21D-A30E-08 TCGA-FC-A66V-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0108ed61-8918-4ab9-b932-05cfd43ab22e 61d23977-669f-4308-8e10-682b9c3c969d g.chr7:100681963T>C ENST00000306151.4 + 3 7330 c.7266T>C c.(7264-7266)gtT>gtC p.V2422V NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2422 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CAACTCCTGTTGACACCAGCA 0.512000 5 588 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274150 39274150 + Missense_Mutation SNP T T A TCGA-FC-A66V-01A-21D-A30E-08 TCGA-FC-A66V-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0108ed61-8918-4ab9-b932-05cfd43ab22e 61d23977-669f-4308-8e10-682b9c3c969d g.chr17:39274150T>A ENST00000391413.2 - 1 456 c.418A>T c.(418-420)Agc>Tgc p.S140C NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 140 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.S140C(2) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) ctggagatgctgcagctgggg 0.672000 5 53 0 0 1 0 0 NBPF9 400818 broad.mit.edu 37 1 144815953 144815953 + Missense_Mutation SNP A A G TCGA-FC-A66V-01A-21D-A30E-08 TCGA-FC-A66V-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0108ed61-8918-4ab9-b932-05cfd43ab22e 61d23977-669f-4308-8e10-682b9c3c969d g.chr1:144815953A>G ENST00000440491.2 + 4 550 c.550A>G c.(550-552)Aat>Gat p.N184D NBPF9_ENST00000281815.8_5'UTR|NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000338347.4_Missense_Mutation_p.N184D NM_001037675.2 NP_001032764.1 neuroblastoma breakpoint family, member 9 p.N184D(2) NS(2)|prostate(1) 3 CAACGATGACAATGAAGATGT 0.423000 4 159 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145327548 145327548 + Missense_Mutation SNP A A G TCGA-FC-A66V-01A-21D-A30E-08 TCGA-FC-A66V-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0108ed61-8918-4ab9-b932-05cfd43ab22e 61d23977-669f-4308-8e10-682b9c3c969d g.chr1:145327548A>G ENST00000342960.5 + 32 4140 c.4105A>G c.(4105-4107)Aat>Gat p.N1369D NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 1369 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) GGACTCACTGAATAGATGTTA 0.473000 4 39 0 0 1 0 0 TMEM223 79064 broad.mit.edu 37 11 62559255 62559255 + Frame_Shift_Del DEL G G - TCGA-FC-A66V-01A-21D-A30E-08 TCGA-FC-A66V-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0108ed61-8918-4ab9-b932-05cfd43ab22e 61d23977-669f-4308-8e10-682b9c3c969d g.chr11:62559255delG ENST00000307366.7 - 1 238 c.212delC c.(211-213)cgfs p.P71fs TMEM223_ENST00000525631.1_Frame_Shift_Del_p.P71fs NM_001080501.2 NP_001073970.1 A0PJW6 TM223_HUMAN transmembrane protein 223 71 integral to membrane CACCGGAACCGGGGGCCGGGA 0.706 2 4 --- --- --- --- ALDH3B1 221 broad.mit.edu 37 11 67782802 67782802 + Frame_Shift_Del DEL G G - TCGA-FC-A66V-01A-21D-A30E-08 TCGA-FC-A66V-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0108ed61-8918-4ab9-b932-05cfd43ab22e 61d23977-669f-4308-8e10-682b9c3c969d g.chr11:67782802delG ENST00000539229.1 + 2 151 c.35delG c.(34-36)cgfs p.R12fs ALDH3B1_ENST00000316367.6_Frame_Shift_Del_p.R12fs|ALDH3B1_ENST00000342456.6_Frame_Shift_Del_p.R12fs|ALDH3B1_ENST00000434449.1_3'UTR|ALDH3B1_ENST00000007633.8_Frame_Shift_Del_p.R12fs NM_001161473.1 NP_001154945.1 P43353 AL3B1_HUMAN aldehyde dehydrogenase 3 family, member B1 12 alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process 3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase NADH(DB00157) CGGCGACTGCGGGAGGCCTTC 0.687 2 4 --- --- --- --- ADAMTS7 11173 broad.mit.edu 37 15 79058183 79058184 + Frame_Shift_Ins INS - - TGGGTCC TCGA-FC-A66V-01A-21D-A30E-08 TCGA-FC-A66V-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0108ed61-8918-4ab9-b932-05cfd43ab22e 61d23977-669f-4308-8e10-682b9c3c969d g.chr15:79058183_79058184insTGGGTCC ENST00000388820.4 - 19 4279_4280 c.4069_4070insGGACCCA c.(4069-4071)gggfs p.-1357fs NM_014272.3 NP_055087.2 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 7 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9) 54 AGGCTGACCCTTGGGTCCTGGG 0.653 7 25 --- --- --- --- hsa-mir-6080 0 broad.mit.edu 37 17 62750914 62750914 + RNA DEL T T - TCGA-FC-A66V-01A-21D-A30E-08 TCGA-FC-A66V-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0108ed61-8918-4ab9-b932-05cfd43ab22e 61d23977-669f-4308-8e10-682b9c3c969d g.chr17:62750914delT ENST00000400873.3 - 0 1841 NR_026899.1 CTGATTATGCttttttttttg 0.433 2 4 --- --- --- ---