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 DNM1P47 100216544 broad.mit.edu 37 15 102292770 102292770 + RNA SNP C C T rs149751844 by1000genomes TCGA-QR-A6GS-01A-11D-A35D-08 TCGA-QR-A6GS-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 201e21fd-e02c-4ff3-80cf-47f0baa4d832 6834e654-4e2d-4f56-b649-c02cf7511ca7 g.chr15:102292770C>T ENST00000561463.1 + 0 816 AGCGGCGCGACGAGATGCTGC 0.597000 3 22 0 0 1 0 0 ADAM21P1 145241 broad.mit.edu 37 14 70714144 70714144 + RNA SNP A A G rs111296958 by1000genomes TCGA-QR-A6GS-01A-11D-A35D-08 TCGA-QR-A6GS-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 201e21fd-e02c-4ff3-80cf-47f0baa4d832 6834e654-4e2d-4f56-b649-c02cf7511ca7 g.chr14:70714144A>G ENST00000530196.1 - 0 374 NR_003951.1 AGAGCTTCTTAACCCTCATAT 0.502000 5 75 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 185892705 185892705 + Missense_Mutation SNP T T G TCGA-QR-A6GS-01A-11D-A35D-08 TCGA-QR-A6GS-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 201e21fd-e02c-4ff3-80cf-47f0baa4d832 6834e654-4e2d-4f56-b649-c02cf7511ca7 g.chr1:185892705T>G ENST00000271588.4 + 8 1434 c.1205T>G c.(1204-1206)tTt>tGt p.F402C HMCN1_ENST00000367492.2_Missense_Mutation_p.F402C NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 402 response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 GAAGCTTTCTTTCTCAAAGTA 0.353000 9 67 0 0 1 0 0 RBM47 54502 broad.mit.edu 37 4 40440293 40440293 + Silent SNP C C T TCGA-QR-A6GS-01A-11D-A35D-08 TCGA-QR-A6GS-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 201e21fd-e02c-4ff3-80cf-47f0baa4d832 6834e654-4e2d-4f56-b649-c02cf7511ca7 g.chr4:40440293C>T ENST00000319592.4 - 4 1327 c.618G>A c.(616-618)gcG>gcA p.A206A RBM47_ENST00000515809.1_Intron|RBM47_ENST00000381795.6_Silent_p.A206A|RBM47_ENST00000381793.2_Silent_p.A206A|RBM47_ENST00000295971.7_Silent_p.A206A|RBM47_ENST00000514014.1_Silent_p.A168A A0AV96 RBM47_HUMAN RNA binding motif protein 47 206 RRM 2. nucleus nucleotide binding|RNA binding breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 29 CCATGGCAGCCGCGCGGTGGC 0.672000 4 37 0 0 1 0 0 KRT83 3889 broad.mit.edu 37 12 52714802 52714802 + Nonsense_Mutation SNP G G T TCGA-QR-A6GS-01A-11D-A35D-08 TCGA-QR-A6GS-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 201e21fd-e02c-4ff3-80cf-47f0baa4d832 6834e654-4e2d-4f56-b649-c02cf7511ca7 g.chr12:52714802G>T ENST00000293670.3 - 1 380 c.318C>A c.(316-318)tgC>tgA p.C106* NM_002282.3 NP_002273.3 P78385 KRT83_HUMAN keratin 83 106 Head. epidermis development keratin filament structural molecule activity NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088) BRCA - Breast invasive adenocarcinoma(357;0.189) CCTGCTTCACGCACTGCGCGT 0.617000 5 159 3.59834e-05 3.8465e-05 1 1 0 NAPB 63908 broad.mit.edu 37 20 23375633 23375633 + Missense_Mutation SNP T T A TCGA-QR-A6GS-01A-11D-A35D-08 TCGA-QR-A6GS-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 201e21fd-e02c-4ff3-80cf-47f0baa4d832 6834e654-4e2d-4f56-b649-c02cf7511ca7 g.chr20:23375633T>A ENST00000377026.4 - 5 431 c.346A>T c.(346-348)Agg>Tgg p.R116W NAPB_ENST00000472855.1_5'UTR|NAPB_ENST00000432543.2_Missense_Mutation_p.R77W|NAPB_ENST00000398425.3_Missense_Mutation_p.R22W NM_022080.2 NP_071363.1 Q9H115 SNAB_HUMAN N-ethylmaleimide-sensitive factor attachment protein, beta 116 intracellular protein transport|vesicle-mediated transport membrane endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1) 12 Lung NSC(19;0.0646)|Colorectal(13;0.0993)|all_lung(19;0.143) ATTGTAAACCTTCCCTAGGGG 0.413000 18 24 0 0 1 0 0 PDE4D 5144 broad.mit.edu 37 5 58273098 58273098 + Missense_Mutation SNP G G T TCGA-QR-A6GS-01A-11D-A35D-08 TCGA-QR-A6GS-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 201e21fd-e02c-4ff3-80cf-47f0baa4d832 6834e654-4e2d-4f56-b649-c02cf7511ca7 g.chr5:58273098G>T ENST00000340635.6 - 12 1802 c.1627C>A c.(1627-1629)Ctt>Att p.L543I PDE4D_ENST00000358923.6_Missense_Mutation_p.L241I|PDE4D_ENST00000502484.2_Missense_Mutation_p.L482I|PDE4D_ENST00000546160.1_Missense_Mutation_p.L482I|PDE4D_ENST00000405755.2_Missense_Mutation_p.L421I|PDE4D_ENST00000507116.1_Missense_Mutation_p.L479I|PDE4D_ENST00000360047.5_Missense_Mutation_p.L407I|PDE4D_ENST00000317118.8_Missense_Mutation_p.L252I|PDE4D_ENST00000503258.1_Missense_Mutation_p.L413I NM_001104631.1 NP_001098101.1 Q08499 PDE4D_HUMAN phosphodiesterase 4D, cAMP-specific 543 signal transduction cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1) 15 all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954) Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276) Adenosine monophosphate(DB00131)|Dyphylline(DB00651) TCTTCCTGAAGCAATTTAAAG 0.368000 8 67 0.335167 0.335167 1 1 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803543 142803543 + RNA SNP C C T TCGA-QR-A6GS-01A-11D-A35D-08 TCGA-QR-A6GS-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 201e21fd-e02c-4ff3-80cf-47f0baa4d832 6834e654-4e2d-4f56-b649-c02cf7511ca7 g.chr1:142803543C>T ENST00000423385.1 - 0 1422 TGTTGGAATTCCTGATGAATC 0.269000 5 139 0 0 1 0 0 AMBN 258 broad.mit.edu 37 4 71467156 71467156 + Missense_Mutation SNP C C T TCGA-QR-A6GS-01A-11D-A35D-08 TCGA-QR-A6GS-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 201e21fd-e02c-4ff3-80cf-47f0baa4d832 6834e654-4e2d-4f56-b649-c02cf7511ca7 g.chr4:71467156C>T ENST00000322937.6 + 6 419 c.316C>T c.(316-318)Cat>Tat p.H106Y AMBN_ENST00000449493.2_Intron NM_016519.5 NP_057603.1 Q9NP70 AMBN_HUMAN ameloblastin (enamel matrix protein) 106 bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth proteinaceous extracellular matrix growth factor activity|structural constituent of tooth enamel NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1) 29 Lung(101;0.235) TTTGCCTGTGCATCCCCCACC 0.488000 OREG0016218 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 108 0 0 1 0 0 GCHFR 2644 broad.mit.edu 37 15 41059517 41059517 + Missense_Mutation SNP G G C TCGA-QR-A6GS-01A-11D-A35D-08 TCGA-QR-A6GS-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 201e21fd-e02c-4ff3-80cf-47f0baa4d832 6834e654-4e2d-4f56-b649-c02cf7511ca7 g.chr15:41059517G>C ENST00000558467.1 + 2 396 c.174G>C c.(172-174)caG>caC p.Q58H GCHFR_ENST00000559932.1_Missense_Mutation_p.Q58H|GCHFR_ENST00000559445.1_Missense_Mutation_p.Q64H|GCHFR_ENST00000260447.4_Missense_Mutation_p.Q75H|GCHFR_ENST00000558670.1_3'UTR P30047 GFRP_HUMAN GTP cyclohydrolase I feedback regulator 75 negative regulation of biosynthetic process|neurotransmitter metabolic process|nitric oxide biosynthetic process cytosol|dendrite|melanosome|nuclear membrane endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1) 6 all_cancers(109;3.3e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;2.58e-05)|COAD - Colon adenocarcinoma(120;0.149)|BRCA - Breast invasive adenocarcinoma(123;0.163) GGGTGGGCCAGACGCTGGTGT 0.602000 29 48 0 0 1 0 0 SH3TC1 54436 broad.mit.edu 37 4 8242527 8242527 + Missense_Mutation SNP A A G TCGA-QR-A6GS-01A-11D-A35D-08 TCGA-QR-A6GS-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 201e21fd-e02c-4ff3-80cf-47f0baa4d832 6834e654-4e2d-4f56-b649-c02cf7511ca7 g.chr4:8242527A>G ENST00000539824.1 + 18 4002 c.3628A>G c.(3628-3630)Atc>Gtc p.I1210V SH3TC1_ENST00000245105.3_Missense_Mutation_p.I1286V Q8TE82 S3TC1_HUMAN SH3 domain and tetratricopeptide repeats 1 1286 binding NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 GCTGGCCACCATCTACCACAA 0.612000 5 34 0 0 1 0 0 PTPN14 5784 broad.mit.edu 37 1 214546172 214546172 + Missense_Mutation SNP C C G TCGA-QR-A6GS-01A-11D-A35D-08 TCGA-QR-A6GS-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 201e21fd-e02c-4ff3-80cf-47f0baa4d832 6834e654-4e2d-4f56-b649-c02cf7511ca7 g.chr1:214546172C>G ENST00000366956.5 - 16 3112 c.2918G>C c.(2917-2919)gGc>gCc p.G973A PTPN14_ENST00000543945.1_3'UTR NM_005401.4 NP_005392.2 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 14 973 Tyrosine-protein phosphatase. lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) TTCTGCCCCGCCAACCACCAC 0.527000 4 41 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179398050 179398050 + Missense_Mutation SNP G G A TCGA-QR-A6GS-01A-11D-A35D-08 TCGA-QR-A6GS-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 201e21fd-e02c-4ff3-80cf-47f0baa4d832 6834e654-4e2d-4f56-b649-c02cf7511ca7 g.chr2:179398050G>A ENST00000589042.1 - 358 103516 c.103292C>T c.(103291-103293)aCg>aTg p.T34431M TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T31863M|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T32790M|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T25366M|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T25491M|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T25558M|TTN-AS1_ENST00000456053.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 32790 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) ATAATAACCCGTGTCTTCAGG 0.488000 4 58 0 0 1 0 0 CEP152 22995 broad.mit.edu 37 15 49033855 49033855 + Missense_Mutation SNP C C T TCGA-QR-A6GS-01A-11D-A35D-08 TCGA-QR-A6GS-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 201e21fd-e02c-4ff3-80cf-47f0baa4d832 6834e654-4e2d-4f56-b649-c02cf7511ca7 g.chr15:49033855C>T ENST00000380950.2 - 26 4223 c.4036G>A c.(4036-4038)Gca>Aca p.A1346T CEP152_ENST00000399334.3_Missense_Mutation_p.A1290T|CEP152_ENST00000325747.5_Missense_Mutation_p.A1253T NM_001194998.1|NM_014985.3 NP_001181927.1|NP_055800.2 O94986 CE152_HUMAN centrosomal protein 152kDa 1290 centrosome duplication|G2/M transition of mitotic cell cycle centrosome|cytosol protein kinase binding breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2) 63 all_lung(180;0.0428) all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06) AGTAATTTTGCCATTGTAGCA 0.353000 4 94 0 0 1 0 0 FLG2 388698 broad.mit.edu 37 1 152327955 152327955 + Silent SNP G G A TCGA-QR-A6GS-01A-11D-A35D-08 TCGA-QR-A6GS-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 201e21fd-e02c-4ff3-80cf-47f0baa4d832 6834e654-4e2d-4f56-b649-c02cf7511ca7 g.chr1:152327955G>A ENST00000388718.5 - 3 2379 c.2307C>T c.(2305-2307)agC>agT p.S769S FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 769 Ser-rich. calcium ion binding|structural molecule activity p.S769S(1) NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GTTGGCCATAGCTAGACTGAC 0.517000 7 310 0 0 1 0 0 SCUBE1 80274 broad.mit.edu 37 22 43606947 43606947 + Silent SNP G G T TCGA-QR-A6GS-01A-11D-A35D-08 TCGA-QR-A6GS-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 201e21fd-e02c-4ff3-80cf-47f0baa4d832 6834e654-4e2d-4f56-b649-c02cf7511ca7 g.chr22:43606947G>T ENST00000360835.3 - 18 2490 c.2364C>A c.(2362-2364)acC>acA p.T788T NM_173050.3 NP_766638.2 Q8IWY4 SCUB1_HUMAN signal peptide, CUB domain, EGF-like 1 788 adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization external side of plasma membrane|extracellular space|extrinsic to plasma membrane calcium ion binding|identical protein binding|protein heterodimerization activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_neural(38;0.0414)|Ovarian(80;0.07) GTGTGACGTTGGTGGAGCCAT 0.642000 15 32 3.52763e-06 4.05024e-06 1 1 0 LOC100294341 100294341 broad.mit.edu 37 17 43587576 43587576 + RNA SNP A A G rs145439557 by1000genomes TCGA-QR-A6GS-01A-11D-A35D-08 TCGA-QR-A6GS-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 201e21fd-e02c-4ff3-80cf-47f0baa4d832 6834e654-4e2d-4f56-b649-c02cf7511ca7 g.chr17:43587576A>G ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA tctgaaaagaaaagaaaaaaa 0.428000 4 19 0 0 1 0 0 GPR64 10149 broad.mit.edu 37 X 19027845 19027845 + Missense_Mutation SNP T T C TCGA-QR-A6GS-01A-11D-A35D-08 TCGA-QR-A6GS-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 201e21fd-e02c-4ff3-80cf-47f0baa4d832 6834e654-4e2d-4f56-b649-c02cf7511ca7 g.chrX:19027845T>C ENST00000354791.3 - 17 1514 c.1273A>G c.(1273-1275)Ata>Gta p.I425V GPR64_ENST00000356606.4_Missense_Mutation_p.I427V|GPR64_ENST00000360279.4_Missense_Mutation_p.I419V|GPR64_ENST00000357544.3_Missense_Mutation_p.I411V|GPR64_ENST00000379869.3_Missense_Mutation_p.I441V|GPR64_ENST00000357991.3_Missense_Mutation_p.I438V|GPR64_ENST00000379873.2_Missense_Mutation_p.I441V|GPR64_ENST00000379876.1_Missense_Mutation_p.I417V|GPR64_ENST00000379878.3_Missense_Mutation_p.I425V|GPR64_ENST00000340581.3_Missense_Mutation_p.I411V Q8IZP9 GPR64_HUMAN G protein-coupled receptor 64 441 neuropeptide signaling pathway|spermatogenesis cytoplasm|integral to plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1) 42 Hepatocellular(33;0.183) GTTAGACTTATAGTCGTGTTT 0.393000 3 81 0 0 1 0 0 NF1 4763 broad.mit.edu 37 17 29541604 29541604 + Splice_Site SNP G G T TCGA-QR-A6GS-01A-11D-A35D-08 TCGA-QR-A6GS-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 201e21fd-e02c-4ff3-80cf-47f0baa4d832 6834e654-4e2d-4f56-b649-c02cf7511ca7 g.chr17:29541604G>T ENST00000358273.4 + 13 1910 c.e13+1 NF1_ENST00000356175.3_Splice_Site|NF1_ENST00000431387.4_Splice_Site NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(5) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) CTTGCTTTGTGTAAGTATTTT 0.348000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 8 4 2.17888e-05 2.41233e-05 1 1 0 LOC100294341 100294341 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-QR-A6GS-01A-11D-A35D-08 TCGA-QR-A6GS-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 201e21fd-e02c-4ff3-80cf-47f0baa4d832 6834e654-4e2d-4f56-b649-c02cf7511ca7 g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 3 13 0 0 1 0 0 ZNF324B 388569 broad.mit.edu 37 19 58963019 58963019 + Translation_Start_Site SNP G G A TCGA-QR-A6GS-01A-11D-A35D-08 TCGA-QR-A6GS-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 201e21fd-e02c-4ff3-80cf-47f0baa4d832 6834e654-4e2d-4f56-b649-c02cf7511ca7 g.chr19:58963019G>A ENST00000391696.1 + 0 6 ZNF324B_ENST00000594214.1_De_novo_Start_OutOfFrame|ZNF324B_ENST00000545523.1_De_novo_Start_InFrame|ZNF324B_ENST00000336614.4_De_novo_Start_OutOfFrame Q6AW86 Z324B_HUMAN zinc finger protein 324B regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179) AGGCCACACCGGTGGTCTGGG 0.706000 8 31 0 0 1 0 0 FLJ16171 441116 broad.mit.edu 37 5 174353430 174353431 + RNA INS - - A TCGA-QR-A6GS-01A-11D-A35D-08 TCGA-QR-A6GS-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 201e21fd-e02c-4ff3-80cf-47f0baa4d832 6834e654-4e2d-4f56-b649-c02cf7511ca7 g.chr5:174353430_174353431insA ENST00000377300.3 - 0 1281 NR_046113.1 AATTGCCAGCCAAAAAAAACCA 0.371 2 4 --- --- --- --- CASP8AP2 9994 broad.mit.edu 37 6 90556397 90556398 + RNA INS - - T TCGA-QR-A6GS-01A-11D-A35D-08 TCGA-QR-A6GS-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 201e21fd-e02c-4ff3-80cf-47f0baa4d832 6834e654-4e2d-4f56-b649-c02cf7511ca7 g.chr6:90556397_90556398insT ENST00000551025.1 + 0 1492 Q9UKL3 C8AP2_HUMAN caspase 8 associated protein 2 cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasm|nucleus caspase activator activity|death receptor binding|transcription corepressor activity NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2) 51 all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0953) TTCTAAtttccttttttttttt 0.421 2 4 --- --- --- --- DCHS1 8642 broad.mit.edu 37 11 6662746 6662748 + In_Frame_Del DEL CAG CAG - TCGA-QR-A6GS-01A-11D-A35D-08 TCGA-QR-A6GS-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 201e21fd-e02c-4ff3-80cf-47f0baa4d832 6834e654-4e2d-4f56-b649-c02cf7511ca7 g.chr11:6662746_6662748delCAG ENST00000299441.3 - 2 508_510 c.97_99delCTG c.(97-99)del p.L33del NM_003737.2 NP_003728.1 Q96JQ0 PCD16_HUMAN dachsous cadherin-related 1 33 calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.L33_G34insL(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCCCAGCCCCcagcagcagcagc 0.635 4 6 --- --- --- --- AATK 9625 broad.mit.edu 37 17 79104882 79104882 + Frame_Shift_Del DEL C C - TCGA-QR-A6GS-01A-11D-A35D-08 TCGA-QR-A6GS-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 201e21fd-e02c-4ff3-80cf-47f0baa4d832 6834e654-4e2d-4f56-b649-c02cf7511ca7 g.chr17:79104882delC ENST00000326724.4 - 3 337 c.313delG c.(313-315)ccfs p.A105fs AATK_ENST00000417379.1_Frame_Shift_Del_p.A2fs NM_001080395.2 NP_001073864.2 Q6ZMQ8 LMTK1_HUMAN apoptosis-associated tyrosine kinase 105 integral to membrane|mitochondrion|perinuclear region of cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1) 21 all_neural(118;0.101) BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524) GGCTGCTTGGCCATGGGCAAG 0.711 2 4 --- --- --- ---