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 SYNCRIP 10492 broad.mit.edu 37 6 86333756 86333756 + Silent SNP C C A TCGA-M7-A71Y-01A-22D-A32B-08 TCGA-M7-A71Y-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99d703ae-a5d1-4dd9-a97a-8122c6a58b25 38ab93fd-6d00-4329-92f0-ca4d05d80a11 g.chr6:86333756C>A ENST00000355238.6 - 7 947 c.741G>T c.(739-741)gtG>gtT p.V247V SYNCRIP_ENST00000369622.3_Silent_p.V247V NM_001159673.1|NM_001159674.1|NM_001159676.1|NM_001159677.1|NM_001253771.1 NP_001153145.1|NP_001153146.1|NP_001153148.1|NP_001153149.1|NP_001240700.1 O60506 HNRPQ_HUMAN synaptotagmin binding, cytoplasmic RNA interacting protein 247 RRM 2. CRD-mediated mRNA stabilization|interspecies interaction between organisms catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm nucleotide binding|protein binding autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 33 all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297) BRCA - Breast invasive adenocarcinoma(108;0.0389) GAATAGAGCCCACAAAAAGCC 0.358000 5 70 0.184627 0.184627 1 1 0 CROCCP2 0 broad.mit.edu 37 1 16953672 16953672 + RNA SNP C C T rs3738597 by1000genomes TCGA-M7-A71Y-01A-22D-A32B-08 TCGA-M7-A71Y-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99d703ae-a5d1-4dd9-a97a-8122c6a58b25 38ab93fd-6d00-4329-92f0-ca4d05d80a11 g.chr1:16953672C>T ENST00000412962.1 - 0 589 TCGGTCTTCTCGGCCTGCAGC 0.652000 7 80 0 0 1 0 0 TDP1 55775 broad.mit.edu 37 14 90459746 90459746 + Missense_Mutation SNP G G A TCGA-M7-A71Y-01A-22D-A32B-08 TCGA-M7-A71Y-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99d703ae-a5d1-4dd9-a97a-8122c6a58b25 38ab93fd-6d00-4329-92f0-ca4d05d80a11 g.chr14:90459746G>A ENST00000335725.4 + 14 1710 c.1460G>A c.(1459-1461)cGc>cAc p.R487H TDP1_ENST00000555880.1_Missense_Mutation_p.R487H|TDP1_ENST00000357382.3_Missense_Mutation_p.R248H|TDP1_ENST00000393454.2_Missense_Mutation_p.R487H|TDP1_ENST00000393452.3_Missense_Mutation_p.R487H NM_018319.3 NP_060789.2 Q9NUW8 TYDP1_HUMAN tyrosyl-DNA phosphodiesterase 1 487 cell death|double-strand break repair|single strand break repair cytoplasm|nucleus 3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1) 25 all_cancers(154;0.185) COAD - Colon adenocarcinoma(157;0.23) ACTTCTGGCCGCAGCAATGCC 0.368000 Repair of DNA-protein crosslinks 3 39 0 0 1 0 0 GTF2IRD2P1 0 broad.mit.edu 37 7 72664015 72664015 + RNA SNP C C G TCGA-M7-A71Y-01A-22D-A32B-08 TCGA-M7-A71Y-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99d703ae-a5d1-4dd9-a97a-8122c6a58b25 38ab93fd-6d00-4329-92f0-ca4d05d80a11 g.chr7:72664015C>G ENST00000425256.1 - 0 885 NR_002164.1 ATACCACCCCCGGGGCATGCC 0.507000 3 15 0 0 1 0 0 CCNL1 57018 broad.mit.edu 37 3 156866322 156866322 + Missense_Mutation SNP G G A TCGA-M7-A71Y-01A-22D-A32B-08 TCGA-M7-A71Y-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99d703ae-a5d1-4dd9-a97a-8122c6a58b25 38ab93fd-6d00-4329-92f0-ca4d05d80a11 g.chr3:156866322G>A ENST00000295926.3 - 11 1407 c.1289C>T c.(1288-1290)tCc>tTc p.S430F CCNL1_ENST00000461804.1_Intron NM_020307.2 NP_064703.1 Q9UK58 CCNL1_HUMAN cyclin L1 430 RS. regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent nuclear speck protein kinase binding NS(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1) 18 LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308) GTGACTGCGGGACCTGCTTCT 0.408000 4 111 0 0 1 0 0 RSL1D1 26156 broad.mit.edu 37 16 11941663 11941663 + Splice_Site SNP C C A TCGA-M7-A71Y-01A-22D-A32B-08 TCGA-M7-A71Y-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99d703ae-a5d1-4dd9-a97a-8122c6a58b25 38ab93fd-6d00-4329-92f0-ca4d05d80a11 g.chr16:11941663C>A ENST00000571133.1 - 3 318 c.245_splice c.e3-1 p.L82_splice RSL1D1_ENST00000542106.1_5'UTR NM_015659.2 NP_056474.2 O76021 RL1D1_HUMAN ribosomal L1 domain containing 1 82 regulation of protein localization|translation large ribosomal subunit|nucleolus protein binding|RNA binding|structural constituent of ribosome NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2) 15 GAGGCAAGGTCCTACAAAATA 0.333000 6 57 0.00198382 0.00226722 1 1 0 CHST1 8534 broad.mit.edu 37 11 45671609 45671609 + Missense_Mutation SNP G G A TCGA-M7-A71Y-01A-22D-A32B-08 TCGA-M7-A71Y-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99d703ae-a5d1-4dd9-a97a-8122c6a58b25 38ab93fd-6d00-4329-92f0-ca4d05d80a11 g.chr11:45671609G>A ENST00000308064.2 - 4 1535 c.865C>T c.(865-867)Cgg>Tgg p.R289W NM_003654.5 NP_003645.1 O43916 CHST1_HUMAN carbohydrate (keratan sulfate Gal-6) sulfotransferase 1 289 galactose metabolic process|inflammatory response|keratan sulfate metabolic process Golgi membrane|integral to membrane keratan sulfotransferase activity breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781) CACGGGGGCCGCATGAGGCCG 0.617000 4 89 0 0 1 0 0 DNAJB5 25822 broad.mit.edu 37 9 34993218 34993218 + Silent SNP T T C TCGA-M7-A71Y-01A-22D-A32B-08 TCGA-M7-A71Y-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99d703ae-a5d1-4dd9-a97a-8122c6a58b25 38ab93fd-6d00-4329-92f0-ca4d05d80a11 g.chr9:34993218T>C ENST00000454002.2 + 2 585 c.204T>C c.(202-204)ggT>ggC p.G68G DNAJB5_ENST00000541010.1_5'UTR|DNAJB5_ENST00000312316.5_5'UTR|DNAJB5_ENST00000335998.3_Silent_p.G30G|DNAJB5_ENST00000545841.1_5'UTR|DNAJB5_ENST00000453597.3_Silent_p.G110G NM_001135005.2 NP_001128477.1 O75953 DNJB5_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 5 0 J. protein folding|response to unfolded protein heat shock protein binding|unfolded protein binding kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 12 LUSC - Lung squamous cell carcinoma(32;0.00575) CCAGTGCTGGTCCAGTGGCTG 0.502000 6 31 0 0 1 0 0 EFCAB13 124989 broad.mit.edu 37 17 45455257 45455257 + Missense_Mutation SNP A A G TCGA-M7-A71Y-01A-22D-A32B-08 TCGA-M7-A71Y-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99d703ae-a5d1-4dd9-a97a-8122c6a58b25 38ab93fd-6d00-4329-92f0-ca4d05d80a11 g.chr17:45455257A>G ENST00000331493.2 + 13 1909 c.1498A>G c.(1498-1500)Act>Gct p.T500A EFCAB13_ENST00000517484.1_Missense_Mutation_p.T404A NM_152347.4 NP_689560.3 EF-hand calcium binding domain 13 TGTGACAGACACTAGTAGAAA 0.323000 3 55 0 0 1 0 0 NES 10763 broad.mit.edu 37 1 156642067 156642067 + Missense_Mutation SNP G G T rs148672848 TCGA-M7-A71Y-01A-22D-A32B-08 TCGA-M7-A71Y-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99d703ae-a5d1-4dd9-a97a-8122c6a58b25 38ab93fd-6d00-4329-92f0-ca4d05d80a11 g.chr1:156642067G>T ENST00000368223.3 - 4 2045 c.1913C>A c.(1912-1914)tCt>tAt p.S638Y NM_006617.1 NP_006608.1 P48681 NEST_HUMAN nestin 638 Tail. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4) 64 all_hematologic(923;0.088)|Hepatocellular(266;0.158) ACCTTCAAGAGATTTCATTAG 0.393000 4 75 0.00909568 0.0095744 1 1 0 PCLO 27445 broad.mit.edu 37 7 82430883 82430883 + Silent SNP T T C TCGA-M7-A71Y-01A-22D-A32B-08 TCGA-M7-A71Y-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99d703ae-a5d1-4dd9-a97a-8122c6a58b25 38ab93fd-6d00-4329-92f0-ca4d05d80a11 g.chr7:82430883T>C ENST00000333891.8 - 22 15295 c.14958A>G c.(14956-14958)caA>caG p.Q4986Q NM_033026.5 NP_149015.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 4909 C2 2. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TTACAGGCTCTTGTCCATTCT 0.353000 4 70 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414343 20414343 + Silent SNP A A G TCGA-M7-A71Y-01A-22D-A32B-08 TCGA-M7-A71Y-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99d703ae-a5d1-4dd9-a97a-8122c6a58b25 38ab93fd-6d00-4329-92f0-ca4d05d80a11 g.chr9:20414343A>G ENST00000380338.4 - 5 787 c.501T>C c.(499-501)agT>agC p.S167S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 167 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S167S(19) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctactgctgctgc 0.532000 T MLL ALL 4 48 0 0 1 0 0 C19orf44 84167 broad.mit.edu 37 19 16614049 16614049 + Silent SNP G G A rs146360582 TCGA-M7-A71Y-01A-22D-A32B-08 TCGA-M7-A71Y-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99d703ae-a5d1-4dd9-a97a-8122c6a58b25 38ab93fd-6d00-4329-92f0-ca4d05d80a11 g.chr19:16614049G>A ENST00000221671.3 + 3 1089 c.933G>A c.(931-933)acG>acA p.T311T C19orf44_ENST00000594035.1_Silent_p.T311T|CTD-3222D19.2_ENST00000409035.1_Intron NM_032207.2 NP_115583.1 Q9H6X5 CS044_HUMAN chromosome 19 open reading frame 44 311 endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2) 16 CCTCCCACACGCCGTCAGTTT 0.562000 7 69 0 0 1 0 0 COL11A1 1301 broad.mit.edu 37 1 103428308 103428308 + Silent SNP G G A TCGA-M7-A71Y-01A-22D-A32B-08 TCGA-M7-A71Y-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99d703ae-a5d1-4dd9-a97a-8122c6a58b25 38ab93fd-6d00-4329-92f0-ca4d05d80a11 g.chr1:103428308G>A ENST00000358392.2 - 39 3278 c.2961C>T c.(2959-2961)acC>acT p.T987T COL11A1_ENST00000512756.1_Silent_p.T859T|COL11A1_ENST00000370096.3_Silent_p.T975T|COL11A1_ENST00000353414.4_Silent_p.T936T NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 975 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) CAGTCTCACCGGTTGGTCCCT 0.438000 10 62 0 0 1 0 0 VAV2 7410 broad.mit.edu 37 9 136642579 136642579 + Missense_Mutation SNP G G C TCGA-M7-A71Y-01A-22D-A32B-08 TCGA-M7-A71Y-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99d703ae-a5d1-4dd9-a97a-8122c6a58b25 38ab93fd-6d00-4329-92f0-ca4d05d80a11 g.chr9:136642579G>C ENST00000371851.1 - 21 2192 c.1867C>G c.(1867-1869)Ctg>Gtg p.L623V VAV2_ENST00000406606.3_Missense_Mutation_p.L623V|VAV2_ENST00000371850.3_Missense_Mutation_p.L633V P52735 VAV2_HUMAN vav 2 guanine nucleotide exchange factor 633 SH3 1. angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol metal ion binding|Rho guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1) 35 OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06) GTTTGTACCAGACGACCCTGG 0.572000 15 88 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55533943 55533943 + Silent SNP C C G TCGA-M7-A71Y-01A-22D-A32B-08 TCGA-M7-A71Y-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99d703ae-a5d1-4dd9-a97a-8122c6a58b25 38ab93fd-6d00-4329-92f0-ca4d05d80a11 g.chr8:55533943C>G ENST00000220676.1 + 2 565 c.417C>G c.(415-417)ccC>ccG p.P139P NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 139 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) ACTCACCGCCCCACCCCGTAG 0.697000 5 58 0 0 1 0 0 CTSG 1511 broad.mit.edu 37 14 25043007 25043007 + Missense_Mutation SNP C C T TCGA-M7-A71Y-01A-22D-A32B-08 TCGA-M7-A71Y-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99d703ae-a5d1-4dd9-a97a-8122c6a58b25 38ab93fd-6d00-4329-92f0-ca4d05d80a11 g.chr14:25043007C>T ENST00000216336.2 - 5 640 c.604G>A c.(604-606)Gga>Aga p.G202R NM_001911.2 NP_001902.1 P08311 CATG_HUMAN cathepsin G 202 Peptidase S1. immune response|proteolysis cell surface|extracellular space|plasma membrane|stored secretory granule heparin binding|serine-type endopeptidase activity autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1) 25 GBM - Glioblastoma multiforme(265;0.0269) AGGGGGCCTCCGGAATCCCCC 0.602000 4 95 0 0 1 0 0 MON2 23041 broad.mit.edu 37 12 62979092 62979092 + Missense_Mutation SNP G G A TCGA-M7-A71Y-01A-22D-A32B-08 TCGA-M7-A71Y-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99d703ae-a5d1-4dd9-a97a-8122c6a58b25 38ab93fd-6d00-4329-92f0-ca4d05d80a11 g.chr12:62979092G>A ENST00000393630.3 + 34 5112 c.4721G>A c.(4720-4722)cGt>cAt p.R1574H MON2_ENST00000280379.6_Missense_Mutation_p.R1574H|MON2_ENST00000546600.1_Missense_Mutation_p.R1573H|MON2_ENST00000393629.2_Missense_Mutation_p.R1567H|MON2_ENST00000552738.1_Missense_Mutation_p.R1544H|MON2_ENST00000393632.2_Missense_Mutation_p.R1573H NM_001278470.1|NM_001278472.1 NP_001265399.1|NP_001265401.1 Q7Z3U7 MON2_HUMAN MON2 homolog (S. cerevisiae) 1574 Golgi to endosome transport|protein transport cytoplasm ARF guanyl-nucleotide exchange factor activity|binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 57 BRCA - Breast invasive adenocarcinoma(9;0.218) GBM - Glioblastoma multiforme(28;0.128) ATTGATATTCGTTTGAGAGAG 0.313000 9 56 0 0 1 0 0 OR6C76 390326 broad.mit.edu 37 12 55820588 55820588 + Missense_Mutation SNP T T C TCGA-M7-A71Y-01A-22D-A32B-08 TCGA-M7-A71Y-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99d703ae-a5d1-4dd9-a97a-8122c6a58b25 38ab93fd-6d00-4329-92f0-ca4d05d80a11 g.chr12:55820588T>C ENST00000328314.3 + 1 551 c.551T>C c.(550-552)aTc>aCc p.I184T NM_001005183.1 NP_001005183.1 A6NM76 O6C76_HUMAN olfactory receptor, family 6, subfamily C, member 76 184 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 TTGCTGCAAATCTCTTGCACA 0.403000 6 70 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13700934 13700934 + Missense_Mutation SNP A A C TCGA-M7-A71Y-01A-22D-A32B-08 TCGA-M7-A71Y-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99d703ae-a5d1-4dd9-a97a-8122c6a58b25 38ab93fd-6d00-4329-92f0-ca4d05d80a11 g.chr5:13700934A>C ENST00000265104.4 - 78 13642 c.13538T>G c.(13537-13539)cTt>cGt p.L4513R NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 4513 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TTCATTGCAAAGCACCATATT 0.473000 Kartagener syndrome 20 136 0 0 1 0 0 RRN3P2 0 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-M7-A71Y-01A-22D-A32B-08 TCGA-M7-A71Y-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99d703ae-a5d1-4dd9-a97a-8122c6a58b25 38ab93fd-6d00-4329-92f0-ca4d05d80a11 g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 4 45 0 0 1 0 0 ALLC 55821 broad.mit.edu 37 2 3744989 3744989 + Nonsense_Mutation SNP C C T TCGA-M7-A71Y-01A-22D-A32B-08 TCGA-M7-A71Y-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99d703ae-a5d1-4dd9-a97a-8122c6a58b25 38ab93fd-6d00-4329-92f0-ca4d05d80a11 g.chr2:3744989C>T ENST00000252505.3 + 10 955 c.793C>T c.(793-795)Cga>Tga p.R265* ALLC_ENST00000471711.1_3'UTR NM_018436.3 NP_060906.3 Q8N6M5 ALLC_HUMAN allantoicase 284 allantoicase activity p.R265*(1) breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 30 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088) all_cancers(51;0.24) OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206) GGCAGTTTTCCGATTGGCACA 0.373000 HNSCC(21;0.051) 8 116 0 0 1 0 0 ZNF502 91392 broad.mit.edu 37 3 44762573 44762573 + Missense_Mutation SNP C C A TCGA-M7-A71Y-01A-22D-A32B-08 TCGA-M7-A71Y-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99d703ae-a5d1-4dd9-a97a-8122c6a58b25 38ab93fd-6d00-4329-92f0-ca4d05d80a11 g.chr3:44762573C>A ENST00000296091.4 + 4 520 c.264C>A c.(262-264)ttC>ttA p.F88L ZNF502_ENST00000449836.1_Missense_Mutation_p.F88L|ZNF502_ENST00000436624.2_Missense_Mutation_p.F88L NM_001134440.1|NM_033210.4 NP_001127912.1|NP_149987.2 Q8TBZ5 ZN502_HUMAN zinc finger protein 502 88 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589) GAATAACTTTCATCCACAAAG 0.403000 4 74 0.00909568 0.0095744 1 1 0 STX16 8675 broad.mit.edu 37 20 57251292 57251292 + Nonsense_Mutation SNP T T A TCGA-M7-A71Y-01A-22D-A32B-08 TCGA-M7-A71Y-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99d703ae-a5d1-4dd9-a97a-8122c6a58b25 38ab93fd-6d00-4329-92f0-ca4d05d80a11 g.chr20:57251292T>A ENST00000371141.4 + 9 1647 c.923T>A c.(922-924)tTa>tAa p.L308* STX16_ENST00000359617.4_Nonsense_Mutation_p.L255*|STX16-NPEPL1_ENST00000530122.1_Intron|STX16_ENST00000361770.5_Nonsense_Mutation_p.L291*|STX16_ENST00000361830.3_Nonsense_Mutation_p.L308*|STX16_ENST00000358029.4_Nonsense_Mutation_p.L304*|STX16_ENST00000371132.4_Nonsense_Mutation_p.L287*|STX16_ENST00000355957.5_Nonsense_Mutation_p.L291* NM_001001433.2 NP_001001433.1 O14662 STX16_HUMAN syntaxin 16 308 intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde transport, endosome to Golgi Golgi membrane|integral to membrane|microsome|SNARE complex SNAP receptor activity breast(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(1) 17 all_lung(29;0.0175) BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05) ATTTTAATATTATTTGTCATC 0.443000 4 181 0 0 1 0 0 DNER 92737 broad.mit.edu 37 2 230272041 230272041 + Missense_Mutation SNP T T G TCGA-M7-A71Y-01A-22D-A32B-08 TCGA-M7-A71Y-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99d703ae-a5d1-4dd9-a97a-8122c6a58b25 38ab93fd-6d00-4329-92f0-ca4d05d80a11 g.chr2:230272041T>G ENST00000341772.4 - 10 1764 c.1630A>C c.(1630-1632)Aag>Cag p.K544Q NM_139072.3 NP_620711.3 Q8NFT8 DNER_HUMAN delta/notch-like EGF repeat containing 544 EGF-like 9. central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly dendrite|early endosome|integral to membrane|plasma membrane calcium ion binding|clathrin binding|transmembrane receptor activity NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 63 all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175) Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375) CAGGGATCCTTGTACAATTCA 0.542000 4 69 0 0 1 0 0 NPC1L1 29881 broad.mit.edu 37 7 44553094 44553094 + Silent SNP A A C TCGA-M7-A71Y-01A-22D-A32B-08 TCGA-M7-A71Y-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99d703ae-a5d1-4dd9-a97a-8122c6a58b25 38ab93fd-6d00-4329-92f0-ca4d05d80a11 g.chr7:44553094A>C ENST00000289547.4 - 20 4087 c.4032T>G c.(4030-4032)ggT>ggG p.G1344G NPC1L1_ENST00000381160.3_Silent_p.G1317G|NPC1L1_ENST00000546276.1_Silent_p.G1271G NM_013389.2 NP_037521.2 Q9UHC9 NPCL1_HUMAN NPC1-like 1 1344 cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 57 Ezetimibe(DB00973) TGGCACCAGCACCTTTGATAG 0.537000 16 70 0 0 1 0 0 BTBD6 90135 broad.mit.edu 37 14 105716611 105716611 + Missense_Mutation SNP C C T rs61747006 TCGA-M7-A71Y-01A-22D-A32B-08 TCGA-M7-A71Y-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99d703ae-a5d1-4dd9-a97a-8122c6a58b25 38ab93fd-6d00-4329-92f0-ca4d05d80a11 g.chr14:105716611C>T ENST00000463376.2 + 3 1376 c.835C>T c.(835-837)Cgc>Tgc p.R279C BRF1_ENST00000546474.1_Intron|BRF1_ENST00000440513.3_Intron|BTBD6_ENST00000392554.3_Missense_Mutation_p.R354C|BRF1_ENST00000327359.3_Intron|BRF1_ENST00000379937.2_Intron|BTBD6_ENST00000327471.3_Missense_Mutation_p.R279C|BTBD6_ENST00000536364.1_Missense_Mutation_p.R354C Q96KE9 BTBD6_HUMAN BTB (POZ) domain containing 6 354 cytoplasmic mRNA processing body endometrium(1)|lung(3) 4 Melanoma(154;0.226) OV - Ovarian serous cystadenocarcinoma(23;0.0163)|Epithelial(46;0.0391) Epithelial(152;0.18) GTGGCGGTACCGCGGGCGCTG 0.627000 9 31 0 0 1 0 0 TEKT1 83659 broad.mit.edu 37 17 6716215 6716215 + Missense_Mutation SNP C C T TCGA-M7-A71Y-01A-22D-A32B-08 TCGA-M7-A71Y-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99d703ae-a5d1-4dd9-a97a-8122c6a58b25 38ab93fd-6d00-4329-92f0-ca4d05d80a11 g.chr17:6716215C>T ENST00000338694.2 - 6 916 c.787G>A c.(787-789)Gca>Aca p.A263T TEKT1_ENST00000535086.1_Missense_Mutation_p.A117T NM_053285.1 NP_444515.1 Q969V4 TEKT1_HUMAN tektin 1 263 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1) 20 Myeloproliferative disorder(207;0.0255) TTCTTGAATGCCGTGTCCACC 0.547000 4 138 0 0 1 0 0 MASP1 5648 broad.mit.edu 37 3 186954037 186954037 + Missense_Mutation SNP A A G TCGA-M7-A71Y-01A-22D-A32B-08 TCGA-M7-A71Y-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99d703ae-a5d1-4dd9-a97a-8122c6a58b25 38ab93fd-6d00-4329-92f0-ca4d05d80a11 g.chr3:186954037A>G ENST00000296280.6 - 11 1847 c.1622T>C c.(1621-1623)cTc>cCc p.L541P MASP1_ENST00000337774.5_Intron|MASP1_ENST00000392472.2_Missense_Mutation_p.L428P|MASP1_ENST00000495249.1_5'UTR NM_139125.3 NP_624302.1 P48740 MASP1_HUMAN mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) 540 Peptidase S1. complement activation, lectin pathway|negative regulation of complement activation|proteolysis extracellular space calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 60 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.49e-18) GBM - Glioblastoma multiforme(93;0.0366) GTCTGGGTGGAGCACCACTCG 0.572000 3 41 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 89943433 89943434 + Frame_Shift_Del DEL AA AA - rs950692 by1000genomes TCGA-M7-A71Y-01A-22D-A32B-08 TCGA-M7-A71Y-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99d703ae-a5d1-4dd9-a97a-8122c6a58b25 38ab93fd-6d00-4329-92f0-ca4d05d80a11 g.chr5:89943433_89943434delAA ENST00000405460.2 + 17 3237_3238 c.3141_3142delAA c.(3139-3144)gcgafs p.AR1047fs NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 1047 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) AGGCTACTGCAAGAGAGAGAGA 0.416 7 121 --- --- --- --- NRCAM 4897 broad.mit.edu 37 7 107790554 107790554 + Frame_Shift_Del DEL C C - TCGA-M7-A71Y-01A-22D-A32B-08 TCGA-M7-A71Y-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99d703ae-a5d1-4dd9-a97a-8122c6a58b25 38ab93fd-6d00-4329-92f0-ca4d05d80a11 g.chr7:107790554delC ENST00000379028.3 - 33 4186 c.3716delG c.(3715-3717)cafs p.R1239fs NRCAM_ENST00000413765.2_Frame_Shift_Del_p.R1115fs|NRCAM_ENST00000379024.4_Frame_Shift_Del_p.R1127fs|NRCAM_ENST00000351718.4_Frame_Shift_Del_p.R1118fs|NRCAM_ENST00000522550.2_5'UTR|NRCAM_ENST00000425651.2_Frame_Shift_Del_p.R1239fs Q92823 NRCAM_HUMAN neuronal cell adhesion molecule 1239 angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly external side of plasma membrane|integral to plasma membrane ankyrin binding breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 65 TGAAGGAGTTCGACTTCCTTT 0.398 29 245 --- --- --- --- MMP12 4321 broad.mit.edu 37 11 102738793 102738794 + RNA INS - - T rs35342965 by1000genomes TCGA-M7-A71Y-01A-22D-A32B-08 TCGA-M7-A71Y-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99d703ae-a5d1-4dd9-a97a-8122c6a58b25 38ab93fd-6d00-4329-92f0-ca4d05d80a11 g.chr11:102738793_102738794insT ENST00000532855.1 - 0 727_728 P39900 MMP12_HUMAN matrix metallopeptidase 12 (macrophage elastase) positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 26 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.014) Acetohydroxamic Acid(DB00551) TGAGGAACAAGTGGTGCCTAAG 0.416 3 6 --- --- --- --- DHX37 57647 broad.mit.edu 37 12 125465270 125465272 + In_Frame_Del DEL CTC CTC - TCGA-M7-A71Y-01A-22D-A32B-08 TCGA-M7-A71Y-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99d703ae-a5d1-4dd9-a97a-8122c6a58b25 38ab93fd-6d00-4329-92f0-ca4d05d80a11 g.chr12:125465270_125465272delCTC ENST00000308736.2 - 4 600_602 c.502_504delGAG c.(502-504)del p.E168del NM_032656.3 NP_116045.2 Q8IY37 DHX37_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 37 168 ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding p.E168delE(3) breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3) 65 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653) CCGATTCCGActcctcctcctcc 0.690 3 4 --- --- --- --- HERC2P2 0 broad.mit.edu 37 15 23312379 23312379 + RNA DEL C C - TCGA-M7-A71Y-01A-22D-A32B-08 TCGA-M7-A71Y-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99d703ae-a5d1-4dd9-a97a-8122c6a58b25 38ab93fd-6d00-4329-92f0-ca4d05d80a11 g.chr15:23312379delC ENST00000560464.1 - 0 3118 TTGTTAttttctttttttttt 0.398 4 4 --- --- --- --- DNM1P47 0 broad.mit.edu 37 15 102299886 102299887 + RNA INS - - G TCGA-M7-A71Y-01A-22D-A32B-08 TCGA-M7-A71Y-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99d703ae-a5d1-4dd9-a97a-8122c6a58b25 38ab93fd-6d00-4329-92f0-ca4d05d80a11 g.chr15:102299886_102299887insG ENST00000561463.1 + 0 7932_7933 AACCTGTACTCGCGTCGGAACC 0.589 4 7 --- --- --- --- RP11-178C3.2 0 broad.mit.edu 37 17 58066608 58066608 + RNA DEL T T - TCGA-M7-A71Y-01A-22D-A32B-08 TCGA-M7-A71Y-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99d703ae-a5d1-4dd9-a97a-8122c6a58b25 38ab93fd-6d00-4329-92f0-ca4d05d80a11 g.chr17:58066608delT ENST00000586209.1 + 0 158 TTGATTGTGATTTTTTTTTTT 0.313 5 3 --- --- --- --- RP11-51L5.5 0 broad.mit.edu 37 17 60366593 60366594 + RNA INS - - A TCGA-M7-A71Y-01A-22D-A32B-08 TCGA-M7-A71Y-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99d703ae-a5d1-4dd9-a97a-8122c6a58b25 38ab93fd-6d00-4329-92f0-ca4d05d80a11 g.chr17:60366593_60366594insA ENST00000602493.1 - 0 430 GTTGAGAGAAGAAAAAAAAAAG 0.272 5 10 --- --- --- --- ZNF347 84671 broad.mit.edu 37 19 53645401 53645401 + Frame_Shift_Del DEL G G - TCGA-M7-A71Y-01A-22D-A32B-08 TCGA-M7-A71Y-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99d703ae-a5d1-4dd9-a97a-8122c6a58b25 38ab93fd-6d00-4329-92f0-ca4d05d80a11 g.chr19:53645401delG ENST00000452676.2 - 5 1109 c.683delC c.(682-684)ctfs p.P228fs ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Frame_Shift_Del_p.P228fs|ZNF347_ENST00000334197.7_Frame_Shift_Del_p.P227fs NM_001172674.1 NP_001166145.1 Q96SE7 ZN347_HUMAN zinc finger protein 347 227 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1) 23 GBM - Glioblastoma multiforme(134;0.0179) GACATTATAAGGCATTTGTTG 0.343 12 181 --- --- --- ---