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 ARHGAP32 9743 broad.mit.edu 37 11 128848708 128848708 + Silent SNP C C G TCGA-VM-A8CH-01A-12D-A36O-08 TCGA-VM-A8CH-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15818586-d771-4a30-ab11-16d2fc88de2f a34a7eab-90c7-4687-b11c-cac4197ac6e2 g.chr11:128848708C>G ENST00000310343.9 - 18 2036 c.2037G>C c.(2035-2037)cgG>cgC p.R679R ARHGAP32_ENST00000524655.1_Silent_p.R605R|ARHGAP32_ENST00000527272.1_Silent_p.R330R|ARHGAP32_ENST00000392657.3_Silent_p.R330R NM_001142685.1 NP_001136157.1 A7KAX9 RHG32_HUMAN Rho GTPase activating protein 32 679 cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane GTPase activator activity|phosphatidylinositol binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3) 60 CACTCTCATTCCGCTGCAGCT 0.468000 15 37 0 0 1 0 0 FASN 2194 broad.mit.edu 37 17 80040931 80040931 + Missense_Mutation SNP T T C TCGA-VM-A8CH-01A-12D-A36O-08 TCGA-VM-A8CH-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15818586-d771-4a30-ab11-16d2fc88de2f a34a7eab-90c7-4687-b11c-cac4197ac6e2 g.chr17:80040931T>C ENST00000306749.2 - 33 5844 c.5626A>G c.(5626-5628)Atc>Gtc p.I1876V FASN_ENST00000579758.1_5'UTR NM_004104.4 NP_004095.4 P49327 FAS_HUMAN fatty acid synthase 1876 Beta-ketoacyl reductase (By similarity). energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process cytosol|Golgi apparatus|melanosome|plasma membrane 3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1) 34 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237) Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339) GTCTTGGAGATGGCCGACATC 0.647000 24 18 0 0 1 0 0 KRT23 25984 broad.mit.edu 37 17 39092548 39092548 + Missense_Mutation SNP C C T TCGA-VM-A8CH-01A-12D-A36O-08 TCGA-VM-A8CH-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15818586-d771-4a30-ab11-16d2fc88de2f a34a7eab-90c7-4687-b11c-cac4197ac6e2 g.chr17:39092548C>T ENST00000209718.3 - 2 732 c.308G>A c.(307-309)cGc>cAc p.R103H KRT23_ENST00000436344.3_Intron|AC004231.2_ENST00000418393.1_RNA NM_015515.3 NP_056330.3 Q9C075 K1C23_HUMAN keratin 23 (histone deacetylase inducible) 103 Coil 1A.|Rod. intermediate filament structural molecule activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 21 Breast(137;0.000301)|Ovarian(249;0.15) TTTCAGGATGCGGCTTTCCAG 0.542000 4 122 0 0 1 0 0 TCP10L2 401285 broad.mit.edu 37 6 167585686 167585686 + Silent SNP G G A rs35001773 TCGA-VM-A8CH-01A-12D-A36O-08 TCGA-VM-A8CH-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15818586-d771-4a30-ab11-16d2fc88de2f a34a7eab-90c7-4687-b11c-cac4197ac6e2 g.chr6:167585686G>A ENST00000366832.2 + 2 185 c.54G>A c.(52-54)gaG>gaA p.E18E NM_001145121.1 NP_001138593.1 B9ZVM9 B9ZVM9_HUMAN t-complex 10-like 2 18 endometrium(1)|kidney(2)|lung(3) 6 CCCACCCAGAGGACCCGTGCC 0.662000 6 15 0 0 1 0 0 HIST1H2AA 221613 broad.mit.edu 37 6 25726459 25726459 + Silent SNP G G A TCGA-VM-A8CH-01A-12D-A36O-08 TCGA-VM-A8CH-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15818586-d771-4a30-ab11-16d2fc88de2f a34a7eab-90c7-4687-b11c-cac4197ac6e2 g.chr6:25726459G>A ENST00000297012.3 - 1 331 c.297C>T c.(295-297)ggC>ggT p.G99G NM_170745.3 NP_734466.1 Q96QV6 H2A1A_HUMAN histone cluster 1, H2aa 99 nucleosome assembly nucleosome|nucleus DNA binding breast(1)|endometrium(2)|large_intestine(2)|lung(8) 13 TGGTCACGCCGCCCAAAAGCT 0.532000 64 80 0 0 1 0 0 OR8I2 120586 broad.mit.edu 37 11 55861593 55861593 + Silent SNP G G A TCGA-VM-A8CH-01A-12D-A36O-08 TCGA-VM-A8CH-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15818586-d771-4a30-ab11-16d2fc88de2f a34a7eab-90c7-4687-b11c-cac4197ac6e2 g.chr11:55861593G>A ENST00000302124.2 + 1 841 c.810G>A c.(808-810)gcG>gcA p.A270A OR8I2_ENST00000560768.1_3'UTR Q8N0Y5 OR8I2_HUMAN olfactory receptor, family 8, subfamily I, member 2 270 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A270A(15) NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 53 Esophageal squamous(21;0.00693) TGACCCAGGCGCAGGTGGCAT 0.453000 3 59 0 0 1 0 0 REG1A 5967 broad.mit.edu 37 2 79349251 79349251 + Splice_Site SNP G G A TCGA-VM-A8CH-01A-12D-A36O-08 TCGA-VM-A8CH-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15818586-d771-4a30-ab11-16d2fc88de2f a34a7eab-90c7-4687-b11c-cac4197ac6e2 g.chr2:79349251G>A ENST00000233735.1 + 4 424 c.321_splice c.e4+1 p.K107_splice NM_002909.4 NP_002900.2 P05451 REG1A_HUMAN regenerating islet-derived 1 alpha 107 C-type lectin. positive regulation of cell proliferation extracellular region growth factor activity|sugar binding NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1) 39 ACCCCAAAAAGGTAGGCTGCA 0.488000 28 44 0 0 1 0 0 KY 339855 broad.mit.edu 37 3 134323111 134323111 + Silent SNP C C T TCGA-VM-A8CH-01A-12D-A36O-08 TCGA-VM-A8CH-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15818586-d771-4a30-ab11-16d2fc88de2f a34a7eab-90c7-4687-b11c-cac4197ac6e2 g.chr3:134323111C>T ENST00000508956.1 - 10 1290 c.1233G>A c.(1231-1233)acG>acA p.T411T KY_ENST00000503669.1_3'UTR|KY_ENST00000423778.2_Silent_p.T432T Q8NBH2 KY_HUMAN kyphoscoliosis peptidase 432 cytoskeleton|Z disc peptidase activity central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2) 21 TGCACTTGAGCGTGTACTCCA 0.567000 11 27 0 0 1 0 0 RP11-114H24.7 0 broad.mit.edu 37 15 78212618 78212618 + RNA SNP A A G TCGA-VM-A8CH-01A-12D-A36O-08 TCGA-VM-A8CH-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15818586-d771-4a30-ab11-16d2fc88de2f a34a7eab-90c7-4687-b11c-cac4197ac6e2 g.chr15:78212618A>G ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA TGTAACCGCCACTGGAGGACC 0.562000 4 36 0 0 1 0 0 NEDD4 4734 broad.mit.edu 37 15 56208601 56208601 + Missense_Mutation SNP A A C TCGA-VM-A8CH-01A-12D-A36O-08 TCGA-VM-A8CH-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15818586-d771-4a30-ab11-16d2fc88de2f a34a7eab-90c7-4687-b11c-cac4197ac6e2 g.chr15:56208601A>C ENST00000508342.1 - 1 728 c.429T>G c.(427-429)agT>agG p.S143R NEDD4_ENST00000435532.3_Intron|NEDD4_ENST00000506154.1_Missense_Mutation_p.S143R|NEDD4_ENST00000338963.2_Missense_Mutation_p.S143R P46934 NEDD4_HUMAN neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase 143 Ser-rich. development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113) AAATGGCTGGACTGCTTACAA 0.408000 74 88 0 0 1 0 0 LINC00303 0 broad.mit.edu 37 1 204006301 204006301 + RNA SNP G G T TCGA-VM-A8CH-01A-12D-A36O-08 TCGA-VM-A8CH-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15818586-d771-4a30-ab11-16d2fc88de2f a34a7eab-90c7-4687-b11c-cac4197ac6e2 g.chr1:204006301G>T ENST00000367207.3 - 0 719 CCTTCTCAGGGCCTTGCCCCT 0.512000 4 9 1 1 1 1 0 IDH1 3417 broad.mit.edu 37 2 209113113 209113113 + Missense_Mutation SNP G G A rs121913499 TCGA-VM-A8CH-01A-12D-A36O-08 TCGA-VM-A8CH-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15818586-d771-4a30-ab11-16d2fc88de2f a34a7eab-90c7-4687-b11c-cac4197ac6e2 g.chr2:209113113G>A ENST00000415913.1 - 4 775 c.394C>T c.(394-396)Cgt>Tgt p.R132C IDH1_ENST00000446179.1_Missense_Mutation_p.R132C|IDH1_ENST00000345146.2_Missense_Mutation_p.R132C 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.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(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) TAAGCATGACGACCTATGATG 0.398000 Mis gliobastoma 30 43 0 0 1 0 0 MEGF11 84465 broad.mit.edu 37 15 66210374 66210374 + Translation_Start_Site SNP G G A TCGA-VM-A8CH-01A-12D-A36O-08 TCGA-VM-A8CH-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15818586-d771-4a30-ab11-16d2fc88de2f a34a7eab-90c7-4687-b11c-cac4197ac6e2 g.chr15:66210374G>A ENST00000395614.1 - 0 2076 MEGF11_ENST00000360698.4_Silent_p.N672N|MEGF11_ENST00000409699.2_Silent_p.N672N|MEGF11_ENST00000288745.3_Silent_p.N597N|MEGF11_ENST00000422354.1_Silent_p.N672N|MEGF11_ENST00000395625.2_Silent_p.N597N A6BM72 MEG11_HUMAN multiple EGF-like-domains 11 basolateral plasma membrane|integral to membrane breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 19 TGCAGGTCCCGTTGTTGGCAC 0.612000 14 26 0 0 1 0 0 WDR81 124997 broad.mit.edu 37 17 1633762 1633762 + Translation_Start_Site SNP G G A TCGA-VM-A8CH-01A-12D-A36O-08 TCGA-VM-A8CH-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15818586-d771-4a30-ab11-16d2fc88de2f a34a7eab-90c7-4687-b11c-cac4197ac6e2 g.chr17:1633762G>A ENST00000545662.1 + 0 8 WDR81_ENST00000309182.5_Silent_p.L201L|WDR81_ENST00000419248.1_Silent_p.L25L|WDR81_ENST00000437219.2_Silent_p.L49L|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000409644.1_Silent_p.L1252L|WDR81_ENST00000446363.1_Intron B3KXU1 B3KXU1_HUMAN WD repeat domain 81 cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1) 16 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) TGCTCCGCCTGCTGACGTCTT 0.647000 10 13 0 0 1 0 0 WEE2 494551 broad.mit.edu 37 7 141418984 141418984 + Missense_Mutation SNP T T C TCGA-VM-A8CH-01A-12D-A36O-08 TCGA-VM-A8CH-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15818586-d771-4a30-ab11-16d2fc88de2f a34a7eab-90c7-4687-b11c-cac4197ac6e2 g.chr7:141418984T>C ENST00000397541.2 + 4 1104 c.698T>C c.(697-699)cTg>cCg p.L233P WEE2-AS1_ENST00000488785.1_RNA NM_001105558.1 NP_001099028.1 P0C1S8 WEE2_HUMAN WEE1 homolog 2 (S. pombe) 233 Protein kinase. egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I centrosome|nucleus ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1) 31 Melanoma(164;0.0171) ATTAAGAGGCTGGATGGATGT 0.363000 50 63 0 0 1 0 0 KIF24 347240 broad.mit.edu 37 9 34306264 34306264 + Missense_Mutation SNP G G T TCGA-VM-A8CH-01A-12D-A36O-08 TCGA-VM-A8CH-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15818586-d771-4a30-ab11-16d2fc88de2f a34a7eab-90c7-4687-b11c-cac4197ac6e2 g.chr9:34306264G>T ENST00000379166.2 - 3 918 c.799C>A c.(799-801)Caa>Aaa p.Q267K KIF24_ENST00000402558.2_Missense_Mutation_p.Q267K|KIF24_ENST00000345050.2_Missense_Mutation_p.Q267K|KIF24_ENST00000379174.3_Missense_Mutation_p.Q267K NM_194313.2 NP_919289.2 Q5T7B8 KIF24_HUMAN kinesin family member 24 267 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 32 LUSC - Lung squamous cell carcinoma(29;0.0107) AGAATATATTGAGTGAGGTCA 0.353000 61 89 1.7104e-27 1.80542e-27 1 1 0 PDILT 204474 broad.mit.edu 37 16 20410472 20410472 + Missense_Mutation SNP C C T TCGA-VM-A8CH-01A-12D-A36O-08 TCGA-VM-A8CH-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15818586-d771-4a30-ab11-16d2fc88de2f a34a7eab-90c7-4687-b11c-cac4197ac6e2 g.chr16:20410472C>T ENST00000302451.4 - 2 399 c.151G>A c.(151-153)Gct>Act p.A51T NM_174924.1 NP_777584.1 Q8N807 PDILT_HUMAN protein disulfide isomerase-like, testis expressed 51 cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis endoplasmic reticulum isomerase activity p.A51T(1) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1) 61 GTCAGGCCAGCGGGCGTTAGC 0.577000 46 57 0 0 1 0 0 SPDL1 54908 broad.mit.edu 37 5 169015540 169015540 + Silent SNP A A G TCGA-VM-A8CH-01A-12D-A36O-08 TCGA-VM-A8CH-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15818586-d771-4a30-ab11-16d2fc88de2f a34a7eab-90c7-4687-b11c-cac4197ac6e2 g.chr5:169015540A>G ENST00000265295.4 + 2 399 c.120A>G c.(118-120)caA>caG p.Q40Q SPDL1_ENST00000510751.1_3'UTR NM_017785.4 NP_060255.3 spindle apparatus coiled-coil protein 1 TACAGAATCAATTGGATAAAT 0.408000 6 33 0 0 1 0 0 RP4-717I23.3 0 broad.mit.edu 37 1 93744310 93744310 + RNA DEL T T - TCGA-VM-A8CH-01A-12D-A36O-08 TCGA-VM-A8CH-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15818586-d771-4a30-ab11-16d2fc88de2f a34a7eab-90c7-4687-b11c-cac4197ac6e2 g.chr1:93744310delT ENST00000451302.2 - 0 1008 RP4-717I23.3_ENST00000413606.1_RNA|RP4-717I23.3_ENST00000457025.1_RNA|RP4-717I23.3_ENST00000414430.1_RNA|RP4-717I23.3_ENST00000424517.3_RNA|RP4-717I23.3_ENST00000455474.1_RNA|RP4-717I23.3_ENST00000447577.1_RNA|RP4-717I23.3_ENST00000446528.2_RNA|RP4-717I23.3_ENST00000429859.1_RNA|RP4-717I23.3_ENST00000415150.1_RNA|RP4-717I23.3_ENST00000427669.1_RNA|RP4-717I23.3_ENST00000442860.1_RNA GGAATGCaaattttttttttt 0.279 2 4 --- --- --- --- AC007092.1 0 broad.mit.edu 37 2 58687297 58687298 + RNA INS - - T rs142388743 by1000genomes TCGA-VM-A8CH-01A-12D-A36O-08 TCGA-VM-A8CH-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15818586-d771-4a30-ab11-16d2fc88de2f a34a7eab-90c7-4687-b11c-cac4197ac6e2 g.chr2:58687297_58687298insT ENST00000452840.1 + 0 127 ATCTGTGTTTCTTTTTTTTTTC 0.312 3 3 --- --- --- --- HLA-V 0 broad.mit.edu 37 6 29760353 29760373 + RNA DEL GCGGGCGCCGTGGATGGAGCA GCGGGCGCCGTGGATGGAGCA - rs74661005 by1000genomes TCGA-VM-A8CH-01A-12D-A36O-08 TCGA-VM-A8CH-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15818586-d771-4a30-ab11-16d2fc88de2f a34a7eab-90c7-4687-b11c-cac4197ac6e2 g.chr6:29760353_29760373delGCGGGCGCCGTGGATGGAGCA ENST00000457107.1 + 0 223_243 GGATGGAGCCGCGGGCGCCGTGGATGGAGCAGGAGGGGCCG 0.674 5 8 --- --- --- --- ATRX 546 broad.mit.edu 37 X 76938201 76938202 + Frame_Shift_Del DEL AG AG - TCGA-VM-A8CH-01A-12D-A36O-08 TCGA-VM-A8CH-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15818586-d771-4a30-ab11-16d2fc88de2f a34a7eab-90c7-4687-b11c-cac4197ac6e2 g.chrX:76938201_76938202delAG ENST00000373344.5 - 9 2760_2761 c.2546_2547delCT c.(2545-2547)tfs p.S850fs ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.S812fs NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 850 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) CATCTTCAGAAGAGTCAAAATC 0.342 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 123 56 --- --- --- ---