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 ZNF185 7739 broad.mit.edu 37 X 152085712 152085712 + Splice_Site SNP C C A TCGA-WB-A81G-01A-11D-A35I-08 TCGA-WB-A81G-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c9b49fb-6eb3-41d2-9bce-dcebb2310d46 a93253fb-3786-4518-9084-dcd9dab7bd9a g.chrX:152085712C>A ENST00000535861.1 + 4 310 c.263_splice c.e4+1 p.R88_splice ZNF185_ENST00000539731.1_Splice_Site_p.R88_splice|ZNF185_ENST00000318504.7_Splice_Site_p.R88_splice|ZNF185_ENST00000449285.2_Splice_Site_p.R88_splice|ZNF185_ENST00000324823.6_5'UTR|ZNF185_ENST00000370268.4_Splice_Site_p.R88_splice NM_001178106.1 NP_001171577.1 O15231 ZN185_HUMAN zinc finger protein 185 (LIM domain) 88 cytoplasm|cytoskeleton|focal adhesion zinc ion binding NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3) 12 Acute lymphoblastic leukemia(192;6.56e-05) CTACATCATCCGGTAAGTGAC 0.622000 3 29 0.004672 0.00511695 1 1 0 LAMA3 3909 broad.mit.edu 37 18 21523936 21523936 + Splice_Site SNP G G A TCGA-WB-A81G-01A-11D-A35I-08 TCGA-WB-A81G-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c9b49fb-6eb3-41d2-9bce-dcebb2310d46 a93253fb-3786-4518-9084-dcd9dab7bd9a g.chr18:21523936G>A ENST00000313654.9 + 69 9451 c.e69+1 LAMA3_ENST00000587184.1_Splice_Site|LAMA3_ENST00000399516.3_Splice_Site|LAMA3_ENST00000588770.1_Splice_Site|LAMA3_ENST00000269217.6_Splice_Site NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) ATGGCACACGGTAAGAGCTGG 0.478000 3 20 0 0 1 0 0 ZNF761 388561 broad.mit.edu 37 19 53945909 53945909 + RNA SNP T T C rs28727441 by1000genomes TCGA-WB-A81G-01A-11D-A35I-08 TCGA-WB-A81G-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c9b49fb-6eb3-41d2-9bce-dcebb2310d46 a93253fb-3786-4518-9084-dcd9dab7bd9a g.chr19:53945909T>C ENST00000454407.1 + 0 55 TPM3P9_ENST00000424846.3_RNA Q86XN6 ZN761_HUMAN zinc finger protein 761 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(134;0.00786) ACCCTGACTCTGCCTGAGGCC 0.562000 4 23 0 0 1 0 0 ELTD1 64123 broad.mit.edu 37 1 79401981 79401981 + Splice_Site SNP A A T TCGA-WB-A81G-01A-11D-A35I-08 TCGA-WB-A81G-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c9b49fb-6eb3-41d2-9bce-dcebb2310d46 a93253fb-3786-4518-9084-dcd9dab7bd9a g.chr1:79401981A>T ENST00000370742.3 - 7 939 c.877_splice c.e7+1 p.N292_splice NM_022159.3 NP_071442.2 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain containing 1 292 neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 69 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) AAGTCCTACCATTTGAATCAT 0.269000 8 63 0 0 1 0 0 SCNN1B 6338 broad.mit.edu 37 16 23387059 23387059 + Splice_Site SNP G G T TCGA-WB-A81G-01A-11D-A35I-08 TCGA-WB-A81G-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c9b49fb-6eb3-41d2-9bce-dcebb2310d46 a93253fb-3786-4518-9084-dcd9dab7bd9a g.chr16:23387059G>T ENST00000343070.2 + 8 1329 c.1152_splice c.e8-1 p.A385_splice SCNN1B_ENST00000568085.1_Splice_Site_p.A349_splice|SCNN1B_ENST00000568923.1_Splice_Site_p.A358_splice|SCNN1B_ENST00000307331.5_Splice_Site_p.A430_splice NM_000336.2 NP_000327.2 P51168 SCNNB_HUMAN sodium channel, non-voltage-gated 1, beta subunit 385 excretion|sensory perception of taste apical plasma membrane ligand-gated sodium channel activity|WW domain binding breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 32 GBM - Glioblastoma multiforme(48;0.0465) Amiloride(DB00594)|Triamterene(DB00384) CCCTCCCCAGGCCTGTCTTCG 0.557000 4 68 0.0215528 0.0215528 1 1 0 ZNF417 147687 broad.mit.edu 37 19 58420525 58420525 + Missense_Mutation SNP T T C TCGA-WB-A81G-01A-11D-A35I-08 TCGA-WB-A81G-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c9b49fb-6eb3-41d2-9bce-dcebb2310d46 a93253fb-3786-4518-9084-dcd9dab7bd9a g.chr19:58420525T>C ENST00000312026.5 - 3 1285 c.1121A>G c.(1120-1122)cAc>cGc p.H374R CTD-2583A14.9_ENST00000602124.1_Intron|ZNF417_ENST00000536263.1_Missense_Mutation_p.H175R|ZNF417_ENST00000595559.1_Missense_Mutation_p.H373R NM_152475.2 NP_689688.2 Q8TAU3 ZN417_HUMAN zinc finger protein 417 374 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1) 18 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151) TTCTCCAGTGTGAACACGCTG 0.463000 30 79 0 0 1 0 0 RP11-481J13.1 0 broad.mit.edu 37 2 56216166 56216166 + RNA SNP A A T TCGA-WB-A81G-01A-11D-A35I-08 TCGA-WB-A81G-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c9b49fb-6eb3-41d2-9bce-dcebb2310d46 a93253fb-3786-4518-9084-dcd9dab7bd9a g.chr2:56216166A>T ENST00000606639.1 + 0 82 MIR216A_ENST00000385063.1_RNA|AC011306.2_ENST00000446139.1_lincRNA CACAGTTGCCAGCTGAGATTA 0.483000 8 88 0 0 1 0 0 UGT8 7368 broad.mit.edu 37 4 115544471 115544471 + Silent SNP T T C TCGA-WB-A81G-01A-11D-A35I-08 TCGA-WB-A81G-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c9b49fb-6eb3-41d2-9bce-dcebb2310d46 a93253fb-3786-4518-9084-dcd9dab7bd9a g.chr4:115544471T>C ENST00000310836.6 + 2 957 c.435T>C c.(433-435)ttT>ttC p.F145F UGT8_ENST00000394511.3_Silent_p.F145F NM_001128174.1 NP_001121646.1 Q16880 CGT_HUMAN UDP glycosyltransferase 8 145 central nervous system development|peripheral nervous system development integral to membrane 2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 31 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000632) TGTGTGGATTTGTGATAGCTC 0.463000 4 129 0 0 1 0 0 SHKBP1 92799 broad.mit.edu 37 19 41094581 41094581 + Missense_Mutation SNP G G A TCGA-WB-A81G-01A-11D-A35I-08 TCGA-WB-A81G-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c9b49fb-6eb3-41d2-9bce-dcebb2310d46 a93253fb-3786-4518-9084-dcd9dab7bd9a g.chr19:41094581G>A ENST00000291842.5 + 14 1437 c.1388G>A c.(1387-1389)gGc>gAc p.G463D SHKBP1_ENST00000600733.1_Missense_Mutation_p.G438D|SHKBP1_ENST00000597649.1_3'UTR NM_138392.3 NP_612401.2 Q8TBC3 SHKB1_HUMAN SH3KBP1 binding protein 1 463 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1) 29 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) CGCTTCCGCGGCATGATTTCC 0.607000 4 83 0 0 1 0 0 AHRR 57491 broad.mit.edu 37 5 434411 434411 + Missense_Mutation SNP C C T TCGA-WB-A81G-01A-11D-A35I-08 TCGA-WB-A81G-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c9b49fb-6eb3-41d2-9bce-dcebb2310d46 a93253fb-3786-4518-9084-dcd9dab7bd9a g.chr5:434411C>T ENST00000316418.5 + 12 1666 c.1622C>T c.(1621-1623)cCg>cTg p.P541L AHRR_ENST00000506456.1_Missense_Mutation_p.P379L|AHRR_ENST00000505113.1_Missense_Mutation_p.P523L|AHRR_ENST00000512529.1_Missense_Mutation_p.P369L NM_020731.4 NP_065782.2 A9YTQ3 AHRR_HUMAN aryl-hydrocarbon receptor repressor 523 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1) 20 Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863) CCGATGCCTCCGGGGGACCTG 0.617000 5 15 0 0 1 0 0 C1orf86 199990 broad.mit.edu 37 1 2125338 2125338 + Silent SNP G G A TCGA-WB-A81G-01A-11D-A35I-08 TCGA-WB-A81G-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c9b49fb-6eb3-41d2-9bce-dcebb2310d46 a93253fb-3786-4518-9084-dcd9dab7bd9a g.chr1:2125338G>A ENST00000378545.3 - 4 518 c.519C>T c.(517-519)tgC>tgT p.C173C C1orf86_ENST00000487186.1_5'UTR|C1orf86_ENST00000400919.3_5'UTR|C1orf86_ENST00000378546.4_Silent_p.C70C Q6NZ36 CA086_HUMAN chromosome 1 open reading frame 86 70 central_nervous_system(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 4 all_cancers(77;0.000134)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;1.09e-37)|OV - Ovarian serous cystadenocarcinoma(86;1.5e-23)|GBM - Glioblastoma multiforme(42;1.61e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.0134)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199) GCTCCGGGCCGCACCTGGGCT 0.652000 3 37 0 0 1 0 0 FRG1BP 284802 broad.mit.edu 37 20 29628283 29628283 + Silent SNP G G C TCGA-WB-A81G-01A-11D-A35I-08 TCGA-WB-A81G-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c9b49fb-6eb3-41d2-9bce-dcebb2310d46 a93253fb-3786-4518-9084-dcd9dab7bd9a g.chr20:29628283G>C ENST00000278882.3 + 6 665 c.285G>C c.(283-285)ggG>ggC p.G95G FRG1B_ENST00000439954.2_Silent_p.G100G|FRG1B_ENST00000358464.4_Silent_p.G95G p.G95G(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGAAGCAGGGGACATAGAAG 0.378000 5 75 0 0 1 0 0 NFE2L2 4780 broad.mit.edu 37 2 178095647 178095647 + Missense_Mutation SNP G G A TCGA-WB-A81G-01A-11D-A35I-08 TCGA-WB-A81G-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c9b49fb-6eb3-41d2-9bce-dcebb2310d46 a93253fb-3786-4518-9084-dcd9dab7bd9a g.chr2:178095647G>A ENST00000397062.3 - 5 2238 c.1684C>T c.(1684-1686)Ctc>Ttc p.L562F NFE2L2_ENST00000397063.4_Missense_Mutation_p.L546F|NFE2L2_ENST00000446151.2_Missense_Mutation_p.L539F|NFE2L2_ENST00000464747.1_Missense_Mutation_p.L546F NM_006164.4 NP_006155.2 Q16236 NF2L2_HUMAN nuclear factor, erythroid 2-like 2 562 transcription from RNA polymerase II promoter centrosome|cytosol|nucleus|plasma membrane protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 158 Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935) AAAACTTCGAGATATAAGGTG 0.363000 Mis """NSCLC, HNSCC""" HNSCC(56;0.16) 19 90 0 0 1 0 0 ANKRD44 91526 broad.mit.edu 37 2 197987396 197987396 + Missense_Mutation SNP T T C TCGA-WB-A81G-01A-11D-A35I-08 TCGA-WB-A81G-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c9b49fb-6eb3-41d2-9bce-dcebb2310d46 a93253fb-3786-4518-9084-dcd9dab7bd9a g.chr2:197987396T>C ENST00000328737.2 - 7 672 c.596A>G c.(595-597)cAt>cGt p.H199R ANKRD44_ENST00000450567.1_Missense_Mutation_p.H199R|ANKRD44_ENST00000409153.1_Missense_Mutation_p.H224R|ANKRD44_ENST00000409919.1_Missense_Mutation_p.H224R|ANKRD44_ENST00000337207.5_Missense_Mutation_p.H199R|ANKRD44_ENST00000282272.8_Missense_Mutation_p.H216R|ANKRD44_ENST00000539527.1_Missense_Mutation_p.H152R Q8N8A2 ANR44_HUMAN ankyrin repeat domain 44 224 protein binding NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 45 OV - Ovarian serous cystadenocarcinoma(117;0.246) GTTCAGGAGATGCTTGACAAC 0.438000 6 62 0 0 1 0 0 DCN 1634 broad.mit.edu 37 12 91550888 91550888 + Missense_Mutation SNP G G A TCGA-WB-A81G-01A-11D-A35I-08 TCGA-WB-A81G-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c9b49fb-6eb3-41d2-9bce-dcebb2310d46 a93253fb-3786-4518-9084-dcd9dab7bd9a g.chr12:91550888G>A ENST00000052754.5 - 5 1117 c.616C>T c.(616-618)Cgc>Tgc p.R206C DCN_ENST00000393155.1_Missense_Mutation_p.R206C|DCN_ENST00000552962.1_Missense_Mutation_p.R206C|DCN_ENST00000420120.2_Missense_Mutation_p.R97C|DCN_ENST00000441303.2_Intron|DCN_ENST00000425043.1_Intron|DCN_ENST00000303320.3_Intron|DCN_ENST00000228329.5_Missense_Mutation_p.R97C|DCN_ENST00000456569.2_Intron|DCN_ENST00000547568.2_Intron NM_001920.3 NP_001911.1 P07585 PGS2_HUMAN decorin 206 organ morphogenesis extracellular space central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1) 20 TCAGCAATGCGGATGTAGGAG 0.378000 4 77 0 0 1 0 0 OSMR 9180 broad.mit.edu 37 5 38904125 38904128 + Splice_Site DEL AAGT AAGT - TCGA-WB-A81G-01A-11D-A35I-08 TCGA-WB-A81G-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c9b49fb-6eb3-41d2-9bce-dcebb2310d46 a93253fb-3786-4518-9084-dcd9dab7bd9a g.chr5:38904125_38904128delAAGT ENST00000274276.3 + 8 1535_1536 c.1134_splice c.e8+1 p.378_splice NM_003999.2 NP_003990.1 Q99650 OSMR_HUMAN oncostatin M receptor 378 Fibronectin type-III 1. cell proliferation|positive regulation of cell proliferation oncostatin-M receptor complex growth factor binding|oncostatin-M receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 46 all_lung(31;0.000365) AAAATGATGCAAGTAAGAACCCTG 0.343 11 25 --- --- --- --- NLRC3 197358 broad.mit.edu 37 16 3594163 3594163 + RNA DEL A A - rs60164526 TCGA-WB-A81G-01A-11D-A35I-08 TCGA-WB-A81G-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c9b49fb-6eb3-41d2-9bce-dcebb2310d46 a93253fb-3786-4518-9084-dcd9dab7bd9a g.chr16:3594163delA ENST00000301749.7 - 0 3261 NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA NM_178844.2 NP_849172.2 Q7RTR2 NLRC3_HUMAN NLR family, CARD domain containing 3 I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation cytoplasm ATP binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 tgtctcgaggaaaaaaaaaaa 0.488 3 4 --- --- --- --- NDUFS7 374291 broad.mit.edu 37 19 1395440 1395440 + Frame_Shift_Del DEL A A - TCGA-WB-A81G-01A-11D-A35I-08 TCGA-WB-A81G-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c9b49fb-6eb3-41d2-9bce-dcebb2310d46 a93253fb-3786-4518-9084-dcd9dab7bd9a g.chr19:1395440delA ENST00000233627.9 + 8 891 c.595delA c.(595-597)ggfs p.R199fs NDUFS7_ENST00000313408.7_3'UTR|AC005329.7_ENST00000501448.1_RNA|NDUFS7_ENST00000540530.1_3'UTR NM_024407.4 NP_077718.3 O75251 NDUS7_HUMAN NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase) 199 mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|transport mitochondrial respiratory chain complex I 4 iron, 4 sulfur cluster binding|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding ovary(1) 1 Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)|Breast(49;0.00186)|Lung NSC(49;0.00292)|all_lung(49;0.00419) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) NADH(DB00157) GCAGCTGCAGAGGAAGATCAA 0.706 2 4 --- --- --- ---