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 SP100 6672 broad.mit.edu 37 2 231368925 231368925 + Missense_Mutation SNP A A G TCGA-EJ-8470-01A-11D-2395-08 TCGA-EJ-8470-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5303fe3d-a1df-4e49-9fe3-94d7daf30ab1 7dccc1c4-8cb2-47b1-8383-93623cc51068 g.chr2:231368925A>G ENST00000264052.5 + 21 2145 c.1790A>G c.(1789-1791)aAt>aGt p.N597S SP100_ENST00000409112.1_Missense_Mutation_p.N597S|SP100_ENST00000340126.4_Missense_Mutation_p.N597S NM_003113.3 NP_003104.2 P23497 SP100_HUMAN SP100 nuclear antigen 597 SAND. DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon cytoplasm|nuclear periphery|nucleolus|PML body chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1) 25 Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) AAAGATGAAAATATTAATTTT 0.408 5 139 --- --- --- --- DNAH1 25981 broad.mit.edu 37 3 52420237 52420237 + Missense_Mutation SNP A A G TCGA-EJ-8470-01A-11D-2395-08 TCGA-EJ-8470-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5303fe3d-a1df-4e49-9fe3-94d7daf30ab1 7dccc1c4-8cb2-47b1-8383-93623cc51068 g.chr3:52420237A>G ENST00000420323.2 + 55 8948 c.8687A>G c.(8686-8688)aAt>aGt p.N2896S NM_015512.4 NP_056327 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 2896 Stalk (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) ATCAAAGCCAATGAGAAGGCC 0.597 9 54 --- --- --- --- FAM86EP 348926 broad.mit.edu 37 4 3948417 3948417 + RNA SNP C C G TCGA-EJ-8470-01A-11D-2395-08 TCGA-EJ-8470-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5303fe3d-a1df-4e49-9fe3-94d7daf30ab1 7dccc1c4-8cb2-47b1-8383-93623cc51068 g.chr4:3948417C>G ENST00000313946.8 - 0 1232 ACGCCGGCGCCCAGTTCTTTC 0.652 21 53 --- --- --- --- GABRB1 2560 broad.mit.edu 37 4 47427733 47427733 + Missense_Mutation SNP C C T TCGA-EJ-8470-01A-11D-2395-08 TCGA-EJ-8470-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5303fe3d-a1df-4e49-9fe3-94d7daf30ab1 7dccc1c4-8cb2-47b1-8383-93623cc51068 g.chr4:47427733C>T ENST00000295454.3 + 9 1415 c.1123C>T c.(1123-1125)Cgg>Tgg p.R375W GABRB1_ENST00000538619.1_Missense_Mutation_p.R305W NM_000812.3 NP_000803.2 P18505 GBRB1_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 1 375 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) CCTGGAAATCCGGAATGAGAC 0.562 8 166 --- --- --- --- PCDHA12 56137 broad.mit.edu 37 5 140256667 140256667 + Missense_Mutation SNP C C T TCGA-EJ-8470-01A-11D-2395-08 TCGA-EJ-8470-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5303fe3d-a1df-4e49-9fe3-94d7daf30ab1 7dccc1c4-8cb2-47b1-8383-93623cc51068 g.chr5:140256667C>T ENST00000398631.2 + 1 1610 c.1610C>T c.(1609-1611)gCg>gTg p.A537V PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron NM_018903.2|NM_031864.2 NP_061726.1|NP_114070.1 NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGGTGAGCGCGCGCGACGCC 0.687 7 336 --- --- --- --- PCDHB6 56130 broad.mit.edu 37 5 140531282 140531282 + Missense_Mutation SNP G G A TCGA-EJ-8470-01A-11D-2395-08 TCGA-EJ-8470-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5303fe3d-a1df-4e49-9fe3-94d7daf30ab1 7dccc1c4-8cb2-47b1-8383-93623cc51068 g.chr5:140531282G>A ENST00000231136.1 + 1 1444 c.1444G>A c.(1444-1446)Gcc>Acc p.A482T PCDHB6_ENST00000543635.1_Missense_Mutation_p.A346T NM_018939.2 NP_061762.1 Q9Y5E3 PCDB6_HUMAN 482 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 84 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGGCATCAACGCCCAGGTCAC 0.642 14 529 --- --- --- --- PCDHB17P 54661 broad.mit.edu 37 5 140537079 140537079 + Silent SNP C C T TCGA-EJ-8470-01A-11D-2395-08 TCGA-EJ-8470-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5303fe3d-a1df-4e49-9fe3-94d7daf30ab1 7dccc1c4-8cb2-47b1-8383-93623cc51068 g.chr5:140537079C>T ENST00000539533.1 + 1 1503 c.1503C>T c.(1501-1503)ctC>ctT p.L501L ACCTGCCCCTCGCCTCCCTGG 0.652 96 266 --- --- --- --- PCDHB16 57717 broad.mit.edu 37 5 140563584 140563584 + Missense_Mutation SNP G G A TCGA-EJ-8470-01A-11D-2395-08 TCGA-EJ-8470-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5303fe3d-a1df-4e49-9fe3-94d7daf30ab1 7dccc1c4-8cb2-47b1-8383-93623cc51068 g.chr5:140563584G>A ENST00000361016.2 + 1 2605 c.1450G>A c.(1450-1452)Gcc>Acc p.A484T NM_020957.1 NP_066008.1 Q9NRJ7 PCDBG_HUMAN 484 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding p.A484T(1) breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1) 69 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGGCACCAACGCCCAGGTCAC 0.652 82 349 --- --- --- --- ZNF165 7718 broad.mit.edu 37 6 28057219 28057219 + Missense_Mutation SNP A A C TCGA-EJ-8470-01A-11D-2395-08 TCGA-EJ-8470-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5303fe3d-a1df-4e49-9fe3-94d7daf30ab1 7dccc1c4-8cb2-47b1-8383-93623cc51068 g.chr6:28057219A>C ENST00000377325.1 + 4 1985 c.1429A>C c.(1429-1431)Att>Ctt p.I477L NM_003447.3 NP_003438.1 P49910 ZN165_HUMAN zinc finger protein 165 477 viral reproduction nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 ACACCAGAGAATTCACATGAG 0.333 30 67 --- --- --- --- FOXP2 93986 broad.mit.edu 37 7 114299484 114299484 + Missense_Mutation SNP G G C TCGA-EJ-8470-01A-11D-2395-08 TCGA-EJ-8470-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5303fe3d-a1df-4e49-9fe3-94d7daf30ab1 7dccc1c4-8cb2-47b1-8383-93623cc51068 g.chr7:114299484G>C ENST00000408937.3 + 13 1991 c.1617G>C c.(1615-1617)agG>agC p.R539S FOXP2_ENST00000350908.4_Missense_Mutation_p.R514S|FOXP2_ENST00000393498.2_Missense_Mutation_p.R493S|FOXP2_ENST00000393489.3_Missense_Mutation_p.R422S|FOXP2_ENST00000403559.4_Missense_Mutation_p.R531S|FOXP2_ENST00000393491.3_Intron|FOXP2_ENST00000393494.2_Missense_Mutation_p.R514S|FOXP2_ENST00000393500.3_3'UTR NM_001172766.2|NM_014491.3|NM_148898.3 NP_001166237.1|NP_055306.1|NP_683696.2 O15409 FOXP2_HUMAN forkhead box P2 514 camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|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|zinc ion binding breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 CTCTCATAAGGCAGGTAAGTA 0.303 27 98 --- --- --- --- UTP23 84294 broad.mit.edu 37 8 117783946 117783946 + Silent SNP T T A TCGA-EJ-8470-01A-11D-2395-08 TCGA-EJ-8470-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5303fe3d-a1df-4e49-9fe3-94d7daf30ab1 7dccc1c4-8cb2-47b1-8383-93623cc51068 g.chr8:117783946T>A ENST00000309822.2 + 3 716 c.615T>A c.(613-615)ctT>ctA p.L205L UTP23_ENST00000520733.1_Intron|UTP23_ENST00000517820.1_Intron|UTP23_ENST00000357148.3_Intron NM_032334.2 NP_115710.2 Q9BRU9 UTP23_HUMAN UTP23, small subunit (SSU) processome component, homolog (yeast) 205 rRNA processing nucleolus breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1) 12 CCAATCCTCTTAGTTGTTTGA 0.358 21 90 --- --- --- --- FKBP15 23307 broad.mit.edu 37 9 115962194 115962194 + Missense_Mutation SNP G G C TCGA-EJ-8470-01A-11D-2395-08 TCGA-EJ-8470-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5303fe3d-a1df-4e49-9fe3-94d7daf30ab1 7dccc1c4-8cb2-47b1-8383-93623cc51068 g.chr9:115962194G>C ENST00000238256.3 - 7 665 c.548C>G c.(547-549)tCc>tGc p.S183C NM_015258.1 NP_056073.1 Q5T1M5 FKB15_HUMAN FK506 binding protein 15, 133kDa 183 endocytosis|protein folding axon|early endosome actin binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1) 26 GAGGTCCTGGGAGAGCACTGC 0.488 12 34 --- --- --- --- SLC25A28 81894 broad.mit.edu 37 10 101373523 101373523 + Silent SNP G G A TCGA-EJ-8470-01A-11D-2395-08 TCGA-EJ-8470-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5303fe3d-a1df-4e49-9fe3-94d7daf30ab1 7dccc1c4-8cb2-47b1-8383-93623cc51068 g.chr10:101373523G>A ENST00000370495.4 - 2 478 c.450C>T c.(448-450)gcC>gcT p.A150A SLC25A28_ENST00000496035.1_5'UTR NM_031212.3 NP_112489.3 Q96A46 MFRN2_HUMAN solute carrier family 25 (mitochondrial iron transporter), member 28 150 ion transport|iron ion homeostasis integral to membrane|mitochondrial inner membrane endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|stomach(1) 11 Colorectal(252;0.234) Epithelial(162;2.57e-10)|all cancers(201;2.01e-08) TTTCGTAGCAGGCAAAATAAA 0.532 16 68 --- --- --- --- BTBD10 84280 broad.mit.edu 37 11 13443342 13443342 + Missense_Mutation SNP T T C TCGA-EJ-8470-01A-11D-2395-08 TCGA-EJ-8470-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5303fe3d-a1df-4e49-9fe3-94d7daf30ab1 7dccc1c4-8cb2-47b1-8383-93623cc51068 g.chr11:13443342T>C ENST00000278174.5 - 3 390 c.145A>G c.(145-147)Atg>Gtg p.M49V BTBD10_ENST00000530907.1_Missense_Mutation_p.M57V|BTBD10_ENST00000532261.1_5'UTR|BTBD10_ENST00000528120.1_Start_Codon_SNP_p.M1V NM_032320.5 NP_115696.2 Q9BSF8 BTBDA_HUMAN BTB (POZ) domain containing 10 49 nucleus cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1) 20 Epithelial(150;0.0214) TGTAGACTCATTTTGGTGTGG 0.408 12 68 --- --- --- --- CNTN1 1272 broad.mit.edu 37 12 41316217 41316217 + Silent SNP C C A TCGA-EJ-8470-01A-11D-2395-08 TCGA-EJ-8470-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5303fe3d-a1df-4e49-9fe3-94d7daf30ab1 7dccc1c4-8cb2-47b1-8383-93623cc51068 g.chr12:41316217C>A ENST00000551295.2 + 5 504 c.387C>A c.(385-387)acC>acA p.T129T CNTN1_ENST00000360099.3_Silent_p.T129T|CNTN1_ENST00000348761.2_Silent_p.T118T|CNTN1_ENST00000347616.1_Silent_p.T129T|CNTN1_ENST00000547702.1_Silent_p.T129T|CNTN1_ENST00000547849.1_Silent_p.T129T NM_001843.3 NP_001834.2 Q12860 CNTN1_HUMAN contactin 1 129 Ig-like C2-type 1. axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 90 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) CTGAAGCAACCCTGAGCTTTG 0.398 4 87 --- --- --- --- AMIGO2 347902 broad.mit.edu 37 12 47472525 47472525 + Nonsense_Mutation SNP C C T rs147425809 TCGA-EJ-8470-01A-11D-2395-08 TCGA-EJ-8470-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5303fe3d-a1df-4e49-9fe3-94d7daf30ab1 7dccc1c4-8cb2-47b1-8383-93623cc51068 g.chr12:47472525C>T ENST00000266581.4 - 2 727 c.261G>A c.(259-261)tgG>tgA p.W87* AMIGO2_ENST00000429635.1_Nonsense_Mutation_p.W87*|AMIGO2_ENST00000321382.3_Nonsense_Mutation_p.W87*|AMIGO2_ENST00000550413.1_Nonsense_Mutation_p.W87* NM_181847.4 NP_862830.1 Q86SJ2 AMGO2_HUMAN adhesion molecule with Ig-like domain 2 87 heterophilic cell-cell adhesion|homophilic cell adhesion integral to membrane|nucleus|plasma membrane endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Renal(347;0.138)|Lung SC(27;0.192) ATACTGGAATCCACTCAGAAT 0.438 33 137 --- --- --- --- ANKS3 124401 broad.mit.edu 37 16 4780010 4780010 + Silent SNP C C T rs148767427 TCGA-EJ-8470-01A-11D-2395-08 TCGA-EJ-8470-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5303fe3d-a1df-4e49-9fe3-94d7daf30ab1 7dccc1c4-8cb2-47b1-8383-93623cc51068 g.chr16:4780010C>T ENST00000304283.4 - 3 435 c.141G>A c.(139-141)caG>caA p.Q47Q ANKS3_ENST00000592711.1_Silent_p.Q47Q|ANKS3_ENST00000450067.2_5'UTR|ANKS3_ENST00000585773.1_Intron|ANKS3_ENST00000446014.2_5'UTR NM_133450.3 NP_597707.1 Q6ZW76 ANKS3_HUMAN ankyrin repeat and sterile alpha motif domain containing 3 47 endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1) 19 CCACTTCATACTGGCCAATGG 0.577 40 361 --- --- --- --- DNAH3 55567 broad.mit.edu 37 16 20952769 20952769 + Nonsense_Mutation SNP C C A TCGA-EJ-8470-01A-11D-2395-08 TCGA-EJ-8470-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5303fe3d-a1df-4e49-9fe3-94d7daf30ab1 7dccc1c4-8cb2-47b1-8383-93623cc51068 g.chr16:20952769C>A ENST00000261383.3 - 59 11607 c.11608G>T c.(11608-11610)Gaa>Taa p.E3870* DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 3870 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) TTCATGGATTCTTCATAGACC 0.488 144 473 --- --- --- --- ACLY 47 broad.mit.edu 37 17 40025296 40025296 + Splice_Site SNP C C A TCGA-EJ-8470-01A-11D-2395-08 TCGA-EJ-8470-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5303fe3d-a1df-4e49-9fe3-94d7daf30ab1 7dccc1c4-8cb2-47b1-8383-93623cc51068 g.chr17:40025296C>A ENST00000352035.2 - 27 3264 c.3134G>T c.(3133-3135)cGg>cTg p.R1045L ACLY_ENST00000590151.1_Splice_Site_p.R1045L|ACLY_ENST00000353196.1_Splice_Site_p.R1035L|ACLY_ENST00000588779.1_5'UTR|ACLY_ENST00000393896.2_Splice_Site_p.R1035L|ACLY_ENST00000537919.1_Splice_Site_p.R774L NM_001096.2 NP_001087.2 P53396 ACLY_HUMAN ATP citrate lyase 1045 ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process citrate lyase complex|cytosol|nucleus ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity p.R1045L(1) NTN1/ACLY(2) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 Breast(137;0.000143) CAATGCTCACCGAGTAAAGGA 0.358 5 485 --- --- --- --- NFE2L1 4779 broad.mit.edu 37 17 46136011 46136011 + Missense_Mutation SNP G G C TCGA-EJ-8470-01A-11D-2395-08 TCGA-EJ-8470-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5303fe3d-a1df-4e49-9fe3-94d7daf30ab1 7dccc1c4-8cb2-47b1-8383-93623cc51068 g.chr17:46136011G>C ENST00000362042.3 + 6 1943 c.1327G>C c.(1327-1329)Gat>Cat p.D443H NFE2L1_ENST00000583378.1_Missense_Mutation_p.D244H|NFE2L1_ENST00000582155.1_Missense_Mutation_p.D255H|NFE2L1_ENST00000357480.5_Missense_Mutation_p.D413H|NFE2L1_ENST00000585291.1_Missense_Mutation_p.D413H|NFE2L1_ENST00000361665.3_Missense_Mutation_p.D432H|NFE2L1_ENST00000536222.1_Missense_Mutation_p.D287H NM_003204.2 NP_003195.1 Q14494 NF2L1_HUMAN nuclear factor, erythroid 2-like 1 443 anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 GGGTCTGTTAGATGAAGCTAT 0.547 37 118 --- --- --- --- GNA13 10672 broad.mit.edu 37 17 63049844 63049844 + Missense_Mutation SNP T T C TCGA-EJ-8470-01A-11D-2395-08 TCGA-EJ-8470-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5303fe3d-a1df-4e49-9fe3-94d7daf30ab1 7dccc1c4-8cb2-47b1-8383-93623cc51068 g.chr17:63049844T>C ENST00000439174.2 - 2 531 c.286A>G c.(286-288)Atg>Gtg p.M96V GNA13_ENST00000541118.1_Start_Codon_SNP_p.M1V NM_006572.4 NP_006563.2 Q14344 GNA13_HUMAN guanine nucleotide binding protein (G protein), alpha 13 96 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation|Rho protein signal transduction brush border membrane|heterotrimeric G-protein complex|melanosome D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1) 34 AGCACCCTCATACCTTTGTTT 0.363 26 104 --- --- --- --- PDCD5 9141 broad.mit.edu 37 19 33077770 33077770 + Missense_Mutation SNP G G C TCGA-EJ-8470-01A-11D-2395-08 TCGA-EJ-8470-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5303fe3d-a1df-4e49-9fe3-94d7daf30ab1 7dccc1c4-8cb2-47b1-8383-93623cc51068 g.chr19:33077770G>C ENST00000590247.2 + 5 459 c.265G>C c.(265-267)Gaa>Caa p.E89Q PDCD5_ENST00000586035.1_Missense_Mutation_p.E51Q|PDCD5_ENST00000592786.1_Missense_Mutation_p.R58T|PDCD5_ENST00000379316.3_Intron|PDCD5_ENST00000419343.3_3'UTR NM_004708.3 NP_004699.1 O14737 PDCD5_HUMAN programmed cell death 5 apoptosis|induction of apoptosis cytoplasm|nucleus DNA binding breast(1)|large_intestine(2)|lung(1)|ovary(1) 5 Esophageal squamous(110;0.137) CTAGGTATCAGAACAAGGTTT 0.343 23 94 --- --- --- --- EBF4 57593 broad.mit.edu 37 20 2688616 2688616 + Silent SNP C C T TCGA-EJ-8470-01A-11D-2395-08 TCGA-EJ-8470-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5303fe3d-a1df-4e49-9fe3-94d7daf30ab1 7dccc1c4-8cb2-47b1-8383-93623cc51068 g.chr20:2688616C>T ENST00000380648.4 + 6 694 c.426C>T c.(424-426)gaC>gaT p.D142D EBF4_ENST00000609451.1_Silent_p.D146D NM_001110514.1 NP_001103984.1 Q9BQW3 COE4_HUMAN early B-cell factor 4 146 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding AGGGGCAGGACAAGAACCCCG 0.607 7 17 --- --- --- --- NCR2 9436 broad.mit.edu 37 6 41304075 41304075 + Frame_Shift_Del DEL G G - TCGA-EJ-8470-01A-11D-2395-08 TCGA-EJ-8470-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5303fe3d-a1df-4e49-9fe3-94d7daf30ab1 7dccc1c4-8cb2-47b1-8383-93623cc51068 g.chr6:41304075delG ENST00000373083.4 + 2 525 c.303delG c.(301-303)gagfs p.E102fs NCR2_ENST00000373086.3_Frame_Shift_Del_p.E102fs|NCR2_ENST00000373089.5_Frame_Shift_Del_p.E102fs NM_001199510.1 NP_001186439.1 O95944 NCTR2_HUMAN natural cytotoxicity triggering receptor 2 102 Ig-like. cellular defense response integral to plasma membrane transmembrane receptor activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1) 14 Ovarian(28;0.0327)|Colorectal(47;0.196) ATCTGAGAGAGGAAGACTCAG 0.517 7 189 --- --- --- --- FLT1 2321 broad.mit.edu 37 13 28919605 28919605 + Frame_Shift_Del DEL G G - TCGA-EJ-8470-01A-11D-2395-08 TCGA-EJ-8470-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5303fe3d-a1df-4e49-9fe3-94d7daf30ab1 7dccc1c4-8cb2-47b1-8383-93623cc51068 g.chr13:28919605delG ENST00000282397.4 - 16 2583 c.2332delC c.(2332-2334)ctcfs p.L778fs FLT1_ENST00000540678.1_5'UTR NM_002019.4 NP_002010.2 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 778 cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 115 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) CGGATAAAGAGGGTTAATAGG 0.413 12 29 --- --- --- ---