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 ESPNP 284729 broad.mit.edu 37 1 17017774 17017774 + RNA SNP G G A TCGA-V1-A8MF-01A-11D-A364-08 TCGA-V1-A8MF-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14569e23-59ef-4c2a-abdc-0c162bdfc721 3b55bcae-8653-48b8-b552-b0368b47bac2 g.chr1:17017774G>A ENST00000492551.1 - 0 1953 NR_026567.1 CTGGCCAGCCGGGCCTCCTCC 0.662 3 7 --- --- --- --- TMEM50A 23585 broad.mit.edu 37 1 25679432 25679432 + Missense_Mutation SNP A A G TCGA-V1-A8MF-01A-11D-A364-08 TCGA-V1-A8MF-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14569e23-59ef-4c2a-abdc-0c162bdfc721 3b55bcae-8653-48b8-b552-b0368b47bac2 g.chr1:25679432A>G ENST00000374358.4 + 5 887 c.334A>G c.(334-336)Atg>Gtg p.M112V TMEM50A_ENST00000480937.1_Intron NM_014313.3 NP_055128.1 O95807 TM50A_HUMAN transmembrane protein 50A 112 endoplasmic reticulum|integral to membrane endometrium(1)|kidney(1)|large_intestine(3)|lung(1) 6 Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;3.47e-27)|Colorectal(126;1.1e-08)|COAD - Colon adenocarcinoma(152;7.48e-07)|STAD - Stomach adenocarcinoma(196;0.00035)|BRCA - Breast invasive adenocarcinoma(304;0.00047)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|GBM - Glioblastoma multiforme(114;0.00106)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.204) GATTGCATCTATGTGGATTCT 0.343 28 51 --- --- --- --- CD5L 922 broad.mit.edu 37 1 157805768 157805768 + Nonsense_Mutation SNP A A T TCGA-V1-A8MF-01A-11D-A364-08 TCGA-V1-A8MF-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14569e23-59ef-4c2a-abdc-0c162bdfc721 3b55bcae-8653-48b8-b552-b0368b47bac2 g.chr1:157805768A>T ENST00000368174.4 - 3 329 c.233T>A c.(232-234)tTg>tAg p.L78* CD5L_ENST00000484609.1_5'UTR NM_005894.2 NP_005885.1 O43866 CD5L_HUMAN CD5 molecule-like 78 SRCR 1. apoptosis|cellular defense response extracellular space|membrane scavenger receptor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 52 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) TGGCTCATACAAAATACCACT 0.527 18 141 --- --- --- --- BCL11A 53335 broad.mit.edu 37 2 60688671 60688671 + Missense_Mutation SNP G G A TCGA-V1-A8MF-01A-11D-A364-08 TCGA-V1-A8MF-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14569e23-59ef-4c2a-abdc-0c162bdfc721 3b55bcae-8653-48b8-b552-b0368b47bac2 g.chr2:60688671G>A ENST00000335712.6 - 4 1603 c.1376C>T c.(1375-1377)gCc>gTc p.A459V BCL11A_ENST00000537768.1_Missense_Mutation_p.A128V|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000356842.4_Missense_Mutation_p.A459V|BCL11A_ENST00000538214.1_Missense_Mutation_p.A425V|BCL11A_ENST00000358510.4_Missense_Mutation_p.A425V|BCL11A_ENST00000359629.5_Intron NM_022893.3 NP_075044.2 Q9H165 BC11A_HUMAN B-cell CLL/lymphoma 11A (zinc finger protein) 459 negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 59 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) CGCGCTGCTGGCGCTGCCCAC 0.647 T IGH@ B-CLL 13 18 --- --- --- --- ANKRD36BP2 645784 broad.mit.edu 37 2 89100664 89100664 + RNA SNP C C G TCGA-V1-A8MF-01A-11D-A364-08 TCGA-V1-A8MF-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14569e23-59ef-4c2a-abdc-0c162bdfc721 3b55bcae-8653-48b8-b552-b0368b47bac2 g.chr2:89100664C>G ENST00000393525.3 + 0 1138 AAAGGCAATACTTAATATTCA 0.363 26 89 --- --- --- --- IGKV1-27 28935 broad.mit.edu 37 2 89512999 89512999 + RNA SNP C C G TCGA-V1-A8MF-01A-11D-A364-08 TCGA-V1-A8MF-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14569e23-59ef-4c2a-abdc-0c162bdfc721 3b55bcae-8653-48b8-b552-b0368b47bac2 g.chr2:89512999C>G ENST00000498435.1 - 0 290 CCCAGATCCACTGCCACTGAA 0.488 5 66 --- --- --- --- LRP1B 53353 broad.mit.edu 37 2 141458086 141458086 + Missense_Mutation SNP C C A TCGA-V1-A8MF-01A-11D-A364-08 TCGA-V1-A8MF-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14569e23-59ef-4c2a-abdc-0c162bdfc721 3b55bcae-8653-48b8-b552-b0368b47bac2 g.chr2:141458086C>A ENST00000389484.3 - 41 7503 c.6532G>T c.(6532-6534)Gat>Tat p.D2178Y NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 2178 EGF-like 5. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) GTAACTCCATCTTCTGCCAAA 0.408 TSP Lung(27;0.18) 32 89 --- --- --- --- G6PC2 57818 broad.mit.edu 37 2 169758016 169758016 + Missense_Mutation SNP T T C TCGA-V1-A8MF-01A-11D-A364-08 TCGA-V1-A8MF-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14569e23-59ef-4c2a-abdc-0c162bdfc721 3b55bcae-8653-48b8-b552-b0368b47bac2 g.chr2:169758016T>C ENST00000375363.3 + 1 267 c.175T>C c.(175-177)Tgg>Cgg p.W59R G6PC2_ENST00000429379.2_Missense_Mutation_p.W59R|G6PC2_ENST00000421979.1_Missense_Mutation_p.W59R|SPC25_ENST00000472216.2_Intron NM_021176.2 NP_066999.1 Q9NQR9 G6PC2_HUMAN glucose-6-phosphatase, catalytic, 2 59 gluconeogenesis|glucose homeostasis|glucose transport|regulation of insulin secretion|transmembrane transport endoplasmic reticulum membrane|integral to membrane glucose-6-phosphatase activity breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2) 13 CAAGATGATATGGGTAGCAGT 0.294 25 36 --- --- --- --- COL4A4 1286 broad.mit.edu 37 2 227973563 227973563 + Missense_Mutation SNP G G A TCGA-V1-A8MF-01A-11D-A364-08 TCGA-V1-A8MF-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14569e23-59ef-4c2a-abdc-0c162bdfc721 3b55bcae-8653-48b8-b552-b0368b47bac2 g.chr2:227973563G>A ENST00000396625.3 - 11 886 c.679C>T c.(679-681)Cgt>Tgt p.R227C COL4A4_ENST00000329662.7_Missense_Mutation_p.R227C NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 227 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) AAACCTGGACGCCCTGGTTGG 0.428 9 24 --- --- --- --- LRRFIP1 9208 broad.mit.edu 37 2 238683013 238683013 + Missense_Mutation SNP G G C TCGA-V1-A8MF-01A-11D-A364-08 TCGA-V1-A8MF-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14569e23-59ef-4c2a-abdc-0c162bdfc721 3b55bcae-8653-48b8-b552-b0368b47bac2 g.chr2:238683013G>C ENST00000308482.9 + 23 1789 c.1720G>C c.(1720-1722)Gag>Cag p.E574Q NM_001137550.1 NP_001131022.1 Q32MZ4 LRRF1_HUMAN leucine rich repeat (in FLII) interacting protein 1 623 DNA-binding.|Lys-rich. negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|cytoskeleton|nucleus DNA binding|double-stranded RNA binding|protein binding NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 29 Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182) Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228) AATAAGGTTAGAGAGTCAAGT 0.323 3 14 --- --- --- --- ANAPC4 29945 broad.mit.edu 37 4 25393993 25393993 + Nonsense_Mutation SNP G G T TCGA-V1-A8MF-01A-11D-A364-08 TCGA-V1-A8MF-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14569e23-59ef-4c2a-abdc-0c162bdfc721 3b55bcae-8653-48b8-b552-b0368b47bac2 g.chr4:25393993G>T ENST00000315368.3 + 10 881 c.739G>T c.(739-741)Gaa>Taa p.E247* ANAPC4_ENST00000510092.1_Nonsense_Mutation_p.E247* NM_013367.2 NP_037499.2 Q9UJX5 APC4_HUMAN anaphase promoting complex subunit 4 247 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm protein phosphatase binding|ubiquitin-protein ligase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2) 27 Breast(46;0.0503) TTTCTTACCTGAAGTAACTCG 0.338 15 72 --- --- --- --- RGS7BP 401190 broad.mit.edu 37 5 63890653 63890653 + Nonsense_Mutation SNP C C T TCGA-V1-A8MF-01A-11D-A364-08 TCGA-V1-A8MF-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14569e23-59ef-4c2a-abdc-0c162bdfc721 3b55bcae-8653-48b8-b552-b0368b47bac2 g.chr5:63890653C>T ENST00000334025.2 + 4 906 c.580C>T c.(580-582)Cag>Tag p.Q194* NM_001029875.1|NM_001271890.1|NM_001271891.1 NP_001025046.1|NP_001258819.1|NP_001258820.1 Q6MZT1 R7BP_HUMAN regulator of G-protein signaling 7 binding protein 194 negative regulation of signal transduction cytoplasm|nucleus|plasma membrane breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1) 11 Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186) Lung(70;0.147) ACATTCCTGGCAGGTTTCCAC 0.483 13 33 --- --- --- --- GUSBP3 653188 broad.mit.edu 37 5 68902931 68902931 + RNA SNP C C T TCGA-V1-A8MF-01A-11D-A364-08 TCGA-V1-A8MF-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14569e23-59ef-4c2a-abdc-0c162bdfc721 3b55bcae-8653-48b8-b552-b0368b47bac2 g.chr5:68902931C>T ENST00000510264.2 + 0 6 TAAATATTTTCTCACTGCTTC 0.408 20 188 --- --- --- --- PCDHAC1 56135 broad.mit.edu 37 5 140308857 140308857 + Missense_Mutation SNP T T A TCGA-V1-A8MF-01A-11D-A364-08 TCGA-V1-A8MF-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14569e23-59ef-4c2a-abdc-0c162bdfc721 3b55bcae-8653-48b8-b552-b0368b47bac2 g.chr5:140308857T>A ENST00000253807.2 + 1 2380 c.2380T>A c.(2380-2382)Tcc>Acc p.S794T PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.S794T|PCDHA10_ENST00000307360.5_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron NM_018898.3 NP_061721.2 NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 65 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTTGCCAATATCCTGTATTCA 0.463 24 64 --- --- --- --- LINGO2 158038 broad.mit.edu 37 9 27948877 27948877 + Missense_Mutation SNP G G T TCGA-V1-A8MF-01A-11D-A364-08 TCGA-V1-A8MF-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14569e23-59ef-4c2a-abdc-0c162bdfc721 3b55bcae-8653-48b8-b552-b0368b47bac2 g.chr9:27948877G>T ENST00000379992.2 - 6 2242 c.1793C>A c.(1792-1794)cCc>cAc p.P598H LINGO2_ENST00000308675.3_Missense_Mutation_p.P598H NM_152570.2 NP_689783.1 Q7L985 LIGO2_HUMAN leucine rich repeat and Ig domain containing 2 598 integral to membrane autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 44 Melanoma(11;0.242) all_neural(11;2.78e-09) UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604) GAACCTCCTGGGTCCAGCTAC 0.463 27 70 --- --- --- --- SVEP1 79987 broad.mit.edu 37 9 113208175 113208175 + Missense_Mutation SNP T T C TCGA-V1-A8MF-01A-11D-A364-08 TCGA-V1-A8MF-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14569e23-59ef-4c2a-abdc-0c162bdfc721 3b55bcae-8653-48b8-b552-b0368b47bac2 g.chr9:113208175T>C ENST00000401783.2 - 26 4741 c.4405A>G c.(4405-4407)Atc>Gtc p.I1469V SVEP1_ENST00000302728.8_Missense_Mutation_p.I1469V|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.I1446V NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 1469 Pentaxin. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 GCATAGGAGATTGGTGTTCCA 0.453 18 49 --- --- --- --- DNA2 1763 broad.mit.edu 37 10 70231685 70231685 + Silent SNP G G A TCGA-V1-A8MF-01A-11D-A364-08 TCGA-V1-A8MF-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14569e23-59ef-4c2a-abdc-0c162bdfc721 3b55bcae-8653-48b8-b552-b0368b47bac2 g.chr10:70231685G>A ENST00000399180.2 - 1 194 c.195C>T c.(193-195)agC>agT p.S65S DNA2_ENST00000399179.2_5'UTR P51530 DNA2L_HUMAN DNA replication helicase/nuclease 2 0 base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication mitochondrial nucleoid|nucleoplasm 5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1) 20 AACACAGAAAGCTTAGAAAAG 0.617 6 20 --- --- --- --- OR51S1 119692 broad.mit.edu 37 11 4870309 4870309 + Missense_Mutation SNP G G A TCGA-V1-A8MF-01A-11D-A364-08 TCGA-V1-A8MF-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14569e23-59ef-4c2a-abdc-0c162bdfc721 3b55bcae-8653-48b8-b552-b0368b47bac2 g.chr11:4870309G>A ENST00000322101.2 - 1 205 c.130C>T c.(130-132)Ctt>Ttt p.L44F MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001004758.1 NP_001004758.1 Q8NGJ8 O51S1_HUMAN olfactory receptor, family 51, subfamily S, member 1 44 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) GCAGAGAGAAGGTAGACAGCA 0.572 7 41 --- --- --- --- OR51A7 119687 broad.mit.edu 37 11 4928816 4928816 + Silent SNP C C T TCGA-V1-A8MF-01A-11D-A364-08 TCGA-V1-A8MF-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14569e23-59ef-4c2a-abdc-0c162bdfc721 3b55bcae-8653-48b8-b552-b0368b47bac2 g.chr11:4928816C>T ENST00000359350.4 + 1 217 c.217C>T c.(217-219)Ctg>Ttg p.L73L MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001004749.1 NP_001004749.1 Q8NH64 O51A7_HUMAN olfactory receptor, family 51, subfamily A, member 7 73 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) TGACATGGGCCTGTCCCTCTC 0.468 30 58 --- --- --- --- OR52H1 390067 broad.mit.edu 37 11 5566336 5566336 + Missense_Mutation SNP A A T TCGA-V1-A8MF-01A-11D-A364-08 TCGA-V1-A8MF-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14569e23-59ef-4c2a-abdc-0c162bdfc721 3b55bcae-8653-48b8-b552-b0368b47bac2 g.chr11:5566336A>T ENST00000322653.4 - 1 443 c.418T>A c.(418-420)Tat>Aat p.Y140N HBG2_ENST00000380259.2_Intron NM_001005289.1 NP_001005289.1 Q8NGJ2 O52H1_HUMAN olfactory receptor, family 52, subfamily H, member 1 140 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2) 20 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ATGGTGGTATATCTCAAGGGA 0.438 14 27 --- --- --- --- LTBP2 4053 broad.mit.edu 37 14 74989505 74989505 + Missense_Mutation SNP C C T TCGA-V1-A8MF-01A-11D-A364-08 TCGA-V1-A8MF-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14569e23-59ef-4c2a-abdc-0c162bdfc721 3b55bcae-8653-48b8-b552-b0368b47bac2 g.chr14:74989505C>T ENST00000261978.4 - 16 3033 c.2647G>A c.(2647-2649)Gcc>Acc p.A883T LTBP2_ENST00000556690.1_Missense_Mutation_p.A883T NM_000428.2 NP_000419.1 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding protein 2 883 Cys-rich.|EGF-like 4. protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) GTGCAGTAGGCCTGGCTGGGG 0.612 8 25 --- --- --- --- TTN 7273 broad.mit.edu 37 2 179539084 179539086 + In_Frame_Del DEL TTC TTC - TCGA-V1-A8MF-01A-11D-A364-08 TCGA-V1-A8MF-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14569e23-59ef-4c2a-abdc-0c162bdfc721 3b55bcae-8653-48b8-b552-b0368b47bac2 g.chr2:179539084_179539086delTTC ENST00000589042.1 - 151 34887_34889 c.34663_34665delGAA c.(34663-34665)gaadel p.E11555del TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_In_Frame_Del_p.E10254del|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_In_Frame_Del_p.E11181del|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 11318 Glu-rich.|Pro-rich. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGCTAGGTGGTTCTTCTGGGATT 0.340 5 2 --- --- --- --- HDAC10 83933 broad.mit.edu 37 22 50684778 50684779 + Frame_Shift_Ins INS - - C TCGA-V1-A8MF-01A-11D-A364-08 TCGA-V1-A8MF-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 14569e23-59ef-4c2a-abdc-0c162bdfc721 3b55bcae-8653-48b8-b552-b0368b47bac2 g.chr22:50684778_50684779insC ENST00000216271.5 - 17 1950_1951 c.1598_1599insG c.(1597-1599)ggcfs p.G533fs HDAC10_ENST00000448072.1_Frame_Shift_Ins_p.G483fs|HDAC10_ENST00000349505.4_Frame_Shift_Ins_p.G513fs|HDAC10_ENST00000498366.1_5'UTR|MAPK12_ENST00000497036.1_5'UTR NM_001159286.1|NM_032019.5 NP_001152758.1|NP_114408.3 Q969S8 HDA10_HUMAN histone deacetylase 10 533 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|histone deacetylase complex|nucleus histone deacetylase activity|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific) endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 8 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) CCGCCTCCTTGCCCCTGATGTT 0.614 19 69 --- --- --- ---