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 POTEM 641455 broad.mit.edu 37 14 20010235 20010235 + Missense_Mutation SNP A A G TCGA-HT-8010-01A-11D-2395-08 TCGA-HT-8010-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fafd282-546e-4f61-b4f3-11fcc9afe5ef 75055f5e-3025-4fe5-9955-2be30e9ed69a g.chr14:20010235A>G ENST00000551509.1 - 5 974 c.923T>C c.(922-924)gTt>gCt p.V308A RP11-244H18.1_ENST00000547584.1_lincRNA NM_001145442.1 NP_001138914.1 A6NI47 POTEM_HUMAN POTE ankyrin domain family, member M 308 endometrium(4)|kidney(1)|lung(4) 9 AAGTATGAGAACAGTTCTAAA 0.368000 3 58 0 0 1 0 0 USP11 8237 broad.mit.edu 37 X 47101902 47101902 + Missense_Mutation SNP C C T TCGA-HT-8010-01A-11D-2395-08 TCGA-HT-8010-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fafd282-546e-4f61-b4f3-11fcc9afe5ef 75055f5e-3025-4fe5-9955-2be30e9ed69a g.chrX:47101902C>T ENST00000377107.2 + 11 1823 c.1469C>T c.(1468-1470)aCg>aTg p.T490M USP11_ENST00000218348.3_Missense_Mutation_p.T533M P51784 UBP11_HUMAN ubiquitin specific peptidase 11 533 protein deubiquitination|ubiquitin-dependent protein catabolic process cytoplasm|nucleus cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1) 40 TCCAAACACACGGGCATCTCG 0.567000 12 45 0 0 1 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12884981 12884981 + Missense_Mutation SNP T T C rs4989318 by1000genomes TCGA-HT-8010-01A-11D-2395-08 TCGA-HT-8010-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fafd282-546e-4f61-b4f3-11fcc9afe5ef 75055f5e-3025-4fe5-9955-2be30e9ed69a g.chr1:12884981T>C ENST00000535591.1 - 4 1325 c.1130A>G c.(1129-1131)cAg>cGg p.Q377R NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 377 NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 ATAACTTTCCTGCGGGGCAGG 0.507000 6 86 0 0 1 0 0 POFUT2 23275 broad.mit.edu 37 21 46685545 46685545 + Missense_Mutation SNP A A C TCGA-HT-8010-01A-11D-2395-08 TCGA-HT-8010-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fafd282-546e-4f61-b4f3-11fcc9afe5ef 75055f5e-3025-4fe5-9955-2be30e9ed69a g.chr21:46685545A>C ENST00000349485.5 - 9 1168 c.1142T>G c.(1141-1143)tTt>tGt p.F381C POFUT2_ENST00000331343.7_3'UTR|POFUT2_ENST00000471540.1_5'UTR NM_133635.4 NP_598368.2 Q9Y2G5 OFUT2_HUMAN protein O-fucosyltransferase 2 381 fucose metabolic process endoplasmic reticulum peptide-O-fucosyltransferase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2) 20 Colorectal(79;0.243) GGTGCCAATAAAAAACCTGCA 0.498000 12 28 0 0 1 0 0 AOC1 26 broad.mit.edu 37 7 150555013 150555013 + Silent SNP C C T TCGA-HT-8010-01A-11D-2395-08 TCGA-HT-8010-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fafd282-546e-4f61-b4f3-11fcc9afe5ef 75055f5e-3025-4fe5-9955-2be30e9ed69a g.chr7:150555013C>T ENST00000493429.1 + 4 2039 c.1455C>T c.(1453-1455)gtC>gtT p.V485V AOC1_ENST00000360937.4_Silent_p.V485V|AOC1_ENST00000416793.2_Silent_p.V485V|AOC1_ENST00000467291.1_Silent_p.V485V amine oxidase, copper containing 1 CTGGCTACGTCCACGCCACCT 0.552000 23 83 0 0 1 0 0 ATP11C 286410 broad.mit.edu 37 X 138886675 138886675 + Silent SNP G G C TCGA-HT-8010-01A-11D-2395-08 TCGA-HT-8010-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fafd282-546e-4f61-b4f3-11fcc9afe5ef 75055f5e-3025-4fe5-9955-2be30e9ed69a g.chrX:138886675G>C ENST00000370557.1 - 6 1537 c.510C>G c.(508-510)acC>acG p.T170T ATP11C_ENST00000327569.3_Silent_p.T173T|ATP11C_ENST00000370543.1_Silent_p.T173T|ATP11C_ENST00000361648.2_Silent_p.T173T|ATP11C_ENST00000359686.2_Silent_p.T173T Q8NB49 AT11C_HUMAN ATPase, class VI, type 11C 173 ATP biosynthetic process integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3) 75 Acute lymphoblastic leukemia(192;0.000127) TGACATAACAGGTTCCATCAG 0.393000 74 182 0 0 1 0 0 PHF16 0 broad.mit.edu 37 X 46884202 46884202 + Missense_Mutation SNP A A G TCGA-HT-8010-01A-11D-2395-08 TCGA-HT-8010-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fafd282-546e-4f61-b4f3-11fcc9afe5ef 75055f5e-3025-4fe5-9955-2be30e9ed69a g.chrX:46884202A>G ENST00000218343.4 + 5 659 c.361A>G c.(361-363)Aca>Gca p.T121A PHF16_ENST00000397189.1_Missense_Mutation_p.T121A NM_014735.3 NP_055550.1 Q92613 JADE3_HUMAN 121 histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex zinc ion binding NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2) 33 CCCAGACACCACAGAGCCTGG 0.463000 19 56 0 0 1 0 0 SLC4A8 9498 broad.mit.edu 37 12 51882579 51882579 + Missense_Mutation SNP A A G rs138940118 TCGA-HT-8010-01A-11D-2395-08 TCGA-HT-8010-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fafd282-546e-4f61-b4f3-11fcc9afe5ef 75055f5e-3025-4fe5-9955-2be30e9ed69a g.chr12:51882579A>G ENST00000453097.2 + 18 2600 c.2383A>G c.(2383-2385)Atc>Gtc p.I795V SLC4A8_ENST00000358657.3_Missense_Mutation_p.I822V NM_001039960.2|NM_001258401.2 NP_001035049.1|NP_001245330.1 Q2Y0W8 S4A8_HUMAN solute carrier family 4, sodium bicarbonate cotransporter, member 8 795 bicarbonate transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5) 55 BRCA - Breast invasive adenocarcinoma(357;0.15) TCTCTGTACTATCTTGATATT 0.453000 6 86 0 0 1 0 0 MFNG 4242 broad.mit.edu 37 22 37882152 37882152 + Silent SNP G G A TCGA-HT-8010-01A-11D-2395-08 TCGA-HT-8010-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fafd282-546e-4f61-b4f3-11fcc9afe5ef 75055f5e-3025-4fe5-9955-2be30e9ed69a g.chr22:37882152G>A ENST00000356998.3 - 1 287 c.64C>T c.(64-66)Ctg>Ttg p.L22L MFNG_ENST00000416983.3_Silent_p.L22L NM_002405.3 NP_002396.2 O00587 MFNG_HUMAN MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase 22 pattern specification process extracellular space|integral to Golgi membrane O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity large_intestine(2)|lung(2)|skin(1) 5 Melanoma(58;0.0574) CGCAGACACAGGAGCCCCATG 0.682000 9 41 0 0 1 0 0 ZNF182 7569 broad.mit.edu 37 X 47836606 47836606 + Missense_Mutation SNP C C T TCGA-HT-8010-01A-11D-2395-08 TCGA-HT-8010-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fafd282-546e-4f61-b4f3-11fcc9afe5ef 75055f5e-3025-4fe5-9955-2be30e9ed69a g.chrX:47836606C>T ENST00000396965.1 - 7 1230 c.880G>A c.(880-882)Gaa>Aaa p.E294K ZNF182_ENST00000305127.6_Missense_Mutation_p.E294K|ZNF182_ENST00000376943.3_Missense_Mutation_p.E275K NM_001178099.1 NP_001171570.1 P17025 ZN182_HUMAN zinc finger protein 182 294 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1) 22 TTTCCACATTCAGGACACTCA 0.398000 36 87 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-HT-8010-01A-11D-2395-08 TCGA-HT-8010-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fafd282-546e-4f61-b4f3-11fcc9afe5ef 75055f5e-3025-4fe5-9955-2be30e9ed69a g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 24 58 0 0 1 0 0 ITGAL 0 broad.mit.edu 37 16 30500576 30500576 + Splice_Site SNP G G A TCGA-HT-8010-01A-11D-2395-08 TCGA-HT-8010-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fafd282-546e-4f61-b4f3-11fcc9afe5ef 75055f5e-3025-4fe5-9955-2be30e9ed69a g.chr16:30500576G>A ENST00000356798.6 + 11 1262 c.1080_splice c.e11-1 p.G361_splice RP11-297C4.2_ENST00000569459.1_RNA|ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Splice_Site_p.G278_splice|ITGAL_ENST00000568012.1_Intron NM_002209.2 NP_002200.2 P20701 ITAL_HUMAN integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) 361 blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell integrin complex cell adhesion molecule binding|receptor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 76 Efalizumab(DB00095) CCTGGGCAGGGCCATGCAGTC 0.622000 20 54 0 0 1 0 0 FFAR3 2865 broad.mit.edu 37 19 35850686 35850686 + Nonsense_Mutation SNP G G A TCGA-HT-8010-01A-11D-2395-08 TCGA-HT-8010-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fafd282-546e-4f61-b4f3-11fcc9afe5ef 75055f5e-3025-4fe5-9955-2be30e9ed69a g.chr19:35850686G>A ENST00000327809.4 + 2 1095 c.894G>A c.(892-894)tgG>tgA p.W298* FFAR3_ENST00000594310.1_Nonsense_Mutation_p.W298* NM_005304.3 NP_005295.1 O14843 FFAR3_HUMAN free fatty acid receptor 3 298 integral to plasma membrane G-protein coupled receptor activity|lipid binding endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1) 17 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221) GTGGGCTCTGGGGCCAGTGGC 0.587000 7 48 0 0 1 0 0 SLC25A39 51629 broad.mit.edu 37 17 42400903 42400903 + Missense_Mutation SNP T T C TCGA-HT-8010-01A-11D-2395-08 TCGA-HT-8010-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fafd282-546e-4f61-b4f3-11fcc9afe5ef 75055f5e-3025-4fe5-9955-2be30e9ed69a g.chr17:42400903T>C ENST00000225308.8 - 2 202 c.28A>G c.(28-30)Agc>Ggc p.S10G SLC25A39_ENST00000590194.1_Missense_Mutation_p.S10G|SLC25A39_ENST00000377095.5_Missense_Mutation_p.S10G|SLC25A39_ENST00000537904.2_Missense_Mutation_p.S10G|SLC25A39_ENST00000586016.1_Intron NM_016016.2 NP_057100.1 Q9BZJ4 S2539_HUMAN solute carrier family 25, member 39 10 heme biosynthetic process|transport integral to membrane|mitochondrial inner membrane endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 7 Prostate(33;0.0233) BRCA - Breast invasive adenocarcinoma(366;0.189) TGGAGGGGGCTGATGCCCGCA 0.612000 2 11 0 0 1 0 0 TMEM68 137695 broad.mit.edu 37 8 56663637 56663637 + Silent SNP G G A TCGA-HT-8010-01A-11D-2395-08 TCGA-HT-8010-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fafd282-546e-4f61-b4f3-11fcc9afe5ef 75055f5e-3025-4fe5-9955-2be30e9ed69a g.chr8:56663637G>A ENST00000434581.2 - 5 772 c.573C>T c.(571-573)caC>caT p.H191H TMEM68_ENST00000519784.1_Silent_p.H77H|TMEM68_ENST00000523073.1_Silent_p.H77H|TMEM68_ENST00000334667.2_Silent_p.H191H Q96MH6 TMM68_HUMAN transmembrane protein 68 191 integral to membrane acyltransferase activity NS(1)|kidney(1)|lung(2)|ovary(1)|skin(1) 6 Epithelial(17;0.000361)|all cancers(17;0.00326) TAGCTAACAAGTGGCCACTCC 0.418000 20 86 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56420389 56420389 + Missense_Mutation SNP T T C TCGA-HT-8010-01A-11D-2395-08 TCGA-HT-8010-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fafd282-546e-4f61-b4f3-11fcc9afe5ef 75055f5e-3025-4fe5-9955-2be30e9ed69a g.chr6:56420389T>C ENST00000370754.5 - 60 14796 c.14797A>G c.(14797-14799)Agt>Ggt p.S4933G DST_ENST00000361203.3_Missense_Mutation_p.S4753G|DST_ENST00000244364.6_Missense_Mutation_p.S2341G|DST_ENST00000370769.4_Missense_Mutation_p.S4755G|DST_ENST00000446842.2_Missense_Mutation_p.S4429G|DST_ENST00000370788.2_Missense_Mutation_p.S2667G|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Missense_Mutation_p.S2667G Q03001 DYST_HUMAN dystonin 4753 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TCCAAGTCACTCAGTTTATCA 0.453000 7 63 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664606 22664606 + RNA SNP A A G TCGA-HT-8010-01A-11D-2395-08 TCGA-HT-8010-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fafd282-546e-4f61-b4f3-11fcc9afe5ef 75055f5e-3025-4fe5-9955-2be30e9ed69a g.chr22:22664606A>G ENST00000426066.1 + 0 787 NR_027293.1 GTCTTCATGCAAACTTGGTAT 0.398000 4 38 0 0 1 0 0 CCDC88A 55704 broad.mit.edu 37 2 55582839 55582839 + Missense_Mutation SNP G G A TCGA-HT-8010-01A-11D-2395-08 TCGA-HT-8010-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fafd282-546e-4f61-b4f3-11fcc9afe5ef 75055f5e-3025-4fe5-9955-2be30e9ed69a g.chr2:55582839G>A ENST00000436346.1 - 8 1517 c.676C>T c.(676-678)Cat>Tat p.H226Y CCDC88A_ENST00000336838.6_Missense_Mutation_p.H226Y|CCDC88A_ENST00000413716.2_Missense_Mutation_p.H226Y|CCDC88A_ENST00000263630.8_Missense_Mutation_p.H226Y NM_001135597.1|NM_001254943.1 NP_001129069.1|NP_001241872.1 Q3V6T2 GRDN_HUMAN coiled-coil domain containing 88A 226 activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1) 69 GAAGAGGCATGGGGTAGAAAA 0.443000 18 50 0 0 1 0 0 PBX2P1 0 broad.mit.edu 37 3 142895155 142895155 + RNA DEL C C - TCGA-HT-8010-01A-11D-2395-08 TCGA-HT-8010-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fafd282-546e-4f61-b4f3-11fcc9afe5ef 75055f5e-3025-4fe5-9955-2be30e9ed69a g.chr3:142895155delC ENST00000560287.1 + 0 29 GGCCTCAGGGCCCCCCCCCAG 0.746 5 5 --- --- --- --- NF1 4763 broad.mit.edu 37 17 29556985 29556985 + Frame_Shift_Del DEL C C - TCGA-HT-8010-01A-11D-2395-08 TCGA-HT-8010-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fafd282-546e-4f61-b4f3-11fcc9afe5ef 75055f5e-3025-4fe5-9955-2be30e9ed69a g.chr17:29556985delC ENST00000358273.4 + 22 3366 c.2983delC c.(2983-2985)tgfs p.L995fs NF1_ENST00000356175.3_Frame_Shift_Del_p.L995fs NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 995 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.?(4) 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) GATGTTAAATCTGGTCAGGTA 0.348 """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) 41 120 --- --- --- --- NKPD1 284353 broad.mit.edu 37 19 45655769 45655771 + In_Frame_Del DEL CTG CTG - TCGA-HT-8010-01A-11D-2395-08 TCGA-HT-8010-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6fafd282-546e-4f61-b4f3-11fcc9afe5ef 75055f5e-3025-4fe5-9955-2be30e9ed69a g.chr19:45655769_45655771delCTG ENST00000317951.4 - 4 1923_1925 c.1924_1926delCAG c.(1924-1926)del p.Q642del NKPD1_ENST00000438936.2_In_Frame_Del_p.Q420del|NKPD1_ENST00000589776.1_In_Frame_Del_p.Q420del|NKPD1_ENST00000429338.1_In_Frame_Del_p.Q420del NM_198478.3 NP_940880.3 NTPase, KAP family P-loop domain containing 1 endometrium(1)|lung(4)|prostate(2)|urinary_tract(1) 8 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231) CAAAGTCCCCCTGCTGCTGCTGC 0.704 2 4 --- --- --- ---