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
C3	718	broad.mit.edu	37	19	6718337	6718337	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr19:6718337C>G	ENST00000245907.6	-	3	446	c.354G>C	c.(352-354)gaG>gaC	p.E118D		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	118					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		GCACCACCTTCTCCACCACTT	0.612000													3	53					0	0	1	0	0
C3orf58	205428	broad.mit.edu	37	3	143708448	143708448	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr3:143708448G>A	ENST00000315691.3	+	3	1593	c.1058G>A	c.(1057-1059)cGt>cAt	p.R353H	C3orf58_ENST00000441925.2_Missense_Mutation_p.R115H|C3orf58_ENST00000495414.1_Missense_Mutation_p.R144H|C3orf58_ENST00000493396.1_Intron	NM_173552.3	NP_775823.1	Q8NDZ4	CC058_HUMAN	chromosome 3 open reading frame 58	353						COPI vesicle coat|extracellular region				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CTTTGTGCTCGTGCCACTGTG	0.433000													5	58					0	0	1	0	0
SPIN1	10927	broad.mit.edu	37	9	91090141	91090141	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr9:91090141G>C	ENST00000375859.3	+	6	1016	c.738G>C	c.(736-738)aaG>aaC	p.K246N	SPIN1_ENST00000469017.2_3'UTR|SPIN1_ENST00000541629.1_Missense_Mutation_p.K246N	NM_006717.2	NP_006708.2	Q9Y657	SPIN1_HUMAN	spindlin 1	246					cell cycle|gamete generation|multicellular organismal development	nucleus	methylated histone residue binding			endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						ATTTCATCAAGTTTGATGATG	0.383000													26	36					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30935438	30935438	+	Silent	SNP	C	C	T			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr19:30935438C>T	ENST00000355537.3	+	2	1116	c.969C>T	c.(967-969)caC>caT	p.H323H		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	323					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AGAAGGCACACATCACGGCCG	0.657000													6	169					0	0	1	0	0
ZDHHC19	131540	broad.mit.edu	37	3	195935376	195935376	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr3:195935376C>T	ENST00000296326.3	-	4	543	c.464G>A	c.(463-465)cGc>cAc	p.R155H	ZDHHC19_ENST00000488508.1_5'UTR	NM_001039617.1	NP_001034706.1	Q8WVZ1	ZDH19_HUMAN	zinc finger, DHHC-type containing 19	155						integral to membrane	acyltransferase activity|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(7)|ovary(3)	14	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0022)		CATGAAGAAGCGGAAGTTGCG	0.597000													20	27					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11098732	11098732	+	RNA	SNP	C	C	T	rs73891536		TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr21:11098732C>T	ENST00000470054.1	-	0	193									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ctgctccggccgccatcttac	0.632000													6	183					0	0	1	0	0
CACNA2D2	9254	broad.mit.edu	37	3	50405102	50405102	+	Silent	SNP	G	G	A			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr3:50405102G>A	ENST00000435965.1	-	27	2462	c.2289C>T	c.(2287-2289)gaC>gaT	p.D763D	XXcos-LUCA11.5_ENST00000606589.1_Intron|XXcos-LUCA11.4_ENST00000607362.1_RNA|XXcos-LUCA11.4_ENST00000607121.1_RNA|XXcos-LUCA11.4_ENST00000607088.1_RNA|CACNA2D2_ENST00000429770.1_Silent_p.D756D|CACNA2D2_ENST00000424201.2_Silent_p.D756D|CACNA2D2_ENST00000423994.2_Silent_p.D763D|CACNA2D2_ENST00000395083.1_Silent_p.D756D|XXcos-LUCA11.4_ENST00000606665.1_RNA|XXcos-LUCA11.4_ENST00000606259.1_RNA|CACNA2D2_ENST00000266039.3_Silent_p.D756D|CACNA2D2_ENST00000479441.1_Silent_p.D763D|CACNA2D2_ENST00000360963.3_Silent_p.D687D			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	763					energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	TGATGCCACCGTCTGTGGCAG	0.642000													13	11					0	0	1	0	0
PHF20	51230	broad.mit.edu	37	20	34451082	34451082	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr20:34451082C>T	ENST00000374012.3	+	6	697	c.568C>T	c.(568-570)Cga>Tga	p.R190*	PHF20_ENST00000481202.1_3'UTR|PHF20_ENST00000439301.1_Nonsense_Mutation_p.R190*			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	190	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					GACAGAAAAGCGACCCAAGCA	0.383000													14	73					0	0	1	0	0
PTBP1	5725	broad.mit.edu	37	19	804864	804864	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr19:804864C>G	ENST00000356948.6	+	7	1065	c.642C>G	c.(640-642)atC>atG	p.I214M	PTBP1_ENST00000350092.4_Intron|PTBP1_ENST00000394601.4_Missense_Mutation_p.I214M|PTBP1_ENST00000349038.4_Missense_Mutation_p.I214M	NM_002819.4	NP_002810.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1	214	RRM 2.				negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGAAGATCATCACCTTCACCA	0.652000													7	82					0	0	1	0	0
LRTM2	0	broad.mit.edu	37	12	1940299	1940299	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr12:1940299C>T	ENST00000543818.1	+	4	1108	c.266C>T	c.(265-267)gCc>gTc	p.A89V	CACNA2D4_ENST00000382722.5_Intron|LRTM2_ENST00000535041.1_Missense_Mutation_p.A89V|LRTM2_ENST00000299194.1_Missense_Mutation_p.A89V|LRTM2_ENST00000543730.1_Intron|CACNA2D4_ENST00000586184.1_Intron|CACNA2D4_ENST00000585708.1_Intron|CACNA2D4_ENST00000588077.1_Intron|CACNA2D4_ENST00000587995.1_Intron|CACNA2D4_ENST00000585732.1_Intron	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	89						integral to membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			TGGGCTTTCGCCAACCTCTCC	0.622000													4	110					0	0	1	0	0
ANKRD36	375248	broad.mit.edu	37	2	97853077	97853077	+	Silent	SNP	C	C	T			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr2:97853077C>T	ENST00000420699.2	+	32	2326	c.2082C>T	c.(2080-2082)gaC>gaT	p.D694D	ANKRD36_ENST00000461153.2_Silent_p.D694D	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	694										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CTACAACTGACGAGGAAGACT	0.303000													5	10					0	0	1	0	0
TTC13	79573	broad.mit.edu	37	1	231079620	231079620	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr1:231079620G>C	ENST00000366661.4	-	6	611	c.604C>G	c.(604-606)Ctg>Gtg	p.L202V	TTC13_ENST00000366662.4_Intron|TTC13_ENST00000414259.1_Intron	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	202							binding			central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		AGTTCGAACAGAGCAAGCTCA	0.413000													7	77					0	0	1	0	0
METAP1D	254042	broad.mit.edu	37	2	172945092	172945092	+	Silent	SNP	G	G	A			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr2:172945092G>A	ENST00000315796.4	+	10	1353	c.966G>A	c.(964-966)tcG>tcA	p.S322S	METAP1D_ENST00000488581.1_3'UTR	NM_199227.1	NP_954697.1	Q6UB28	AMP1D_HUMAN	methionyl aminopeptidase type 1D (mitochondrial)	322					N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis	mitochondrion	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			NS(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	8						TGATCACGTCGAGGGGCGCGC	0.612000													10	110					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	C	rs121913499		TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr2:209113113G>C	ENST00000415913.1	-	4	775	c.394C>G	c.(394-396)Cgt>Ggt	p.R132G	IDH1_ENST00000345146.2_Missense_Mutation_p.R132G|IDH1_ENST00000446179.1_Missense_Mutation_p.R132G			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								18	21					0	0	1	0	0
CPVL	54504	broad.mit.edu	37	7	29160567	29160567	+	Silent	SNP	T	T	C			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr7:29160567T>C	ENST00000409850.1	-	6	757	c.111A>G	c.(109-111)ggA>ggG	p.G37G	CPVL_ENST00000488891.2_5'UTR|CPVL_ENST00000265394.5_Silent_p.G37G|CPVL_ENST00000396276.3_Silent_p.G37G			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	37					proteolysis		protein binding|serine-type carboxypeptidase activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						GTCCTGAGTCTCCCTTAGGTG	0.463000													4	68					0	0	1	0	0
GLIPR1L1	256710	broad.mit.edu	37	12	75763881	75763881	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr12:75763881G>C	ENST00000312442.2	+	5	673	c.627G>C	c.(625-627)aaG>aaC	p.K209N	GLIPR1L1_ENST00000378695.4_Missense_Mutation_p.K218N|CAPS2_ENST00000442339.2_Intron|GLIPR1L1_ENST00000548623.1_3'UTR	NM_152779.2	NP_689992.1	Q6UWM5	GPRL1_HUMAN	GLI pathogenesis-related 1 like 1	218						extracellular region				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10						CATTTCTGAAGCCAACGGGGA	0.318000													18	33					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141795497	141795497	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr7:141795497C>T	ENST00000475668.2	+	64	7645	c.7591C>T	c.(7591-7593)Cgg>Tgg	p.R2531W	MGAM_ENST00000549489.2_Missense_Mutation_p.R1635W			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1635					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CACTGTTGTGCGGCCTCTGCT	0.468000													5	189					0	0	1	0	0
C3	718	broad.mit.edu	37	19	6702552	6702552	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr19:6702552C>T	ENST00000245907.6	-	18	2376	c.2284G>A	c.(2284-2286)Gtt>Att	p.V762I		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	762					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CTTCGGGAAACGATGTTCTCT	0.532000													4	84					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A	rs77484671		TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr1:145367767G>A	ENST00000342960.5	+	83	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3455								p.E3455K(5)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		atcaaagaaggaaagaagaag	0.423000													4	35					0	0	1	0	0
GABRG1	2565	broad.mit.edu	37	4	46053576	46053576	+	Silent	SNP	C	C	T	rs143206194	byFrequency	TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr4:46053576C>T	ENST00000295452.4	-	8	1163	c.996G>A	c.(994-996)gcG>gcA	p.A332A		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	332					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		AGAGATCCATCGCAGTCACAT	0.378000													3	45					0	0	1	0	0
KIAA0895L	653319	broad.mit.edu	37	16	67210813	67210813	+	Silent	SNP	G	G	A			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr16:67210813G>A	ENST00000290881.7	-	8	2243	c.1317C>T	c.(1315-1317)caC>caT	p.H439H	KIAA0895L_ENST00000561621.1_3'UTR|KIAA0895L_ENST00000563831.2_5'UTR|KIAA0895L_ENST00000563902.1_Silent_p.H439H|KIAA0895L_ENST00000561679.1_Silent_p.H284H			Q68EN5	K895L_HUMAN	KIAA0895-like	439										breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						CCTGCATGAAGTGGGGCACCC	0.632000													8	96					0	0	1	0	0
LLGL2	3993	broad.mit.edu	37	17	73567853	73567853	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr17:73567853G>A	ENST00000392550.3	+	18	2399	c.2282G>A	c.(2281-2283)cGg>cAg	p.R761Q	LLGL2_ENST00000577200.1_Missense_Mutation_p.R761Q|LLGL2_ENST00000167462.5_Missense_Mutation_p.R761Q	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	761					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			GAGCCTGTGCGGGCAGAGCAG	0.697000													9	17					0	0	1	0	0
WASH3P	0	broad.mit.edu	37	15	102516424	102516424	+	RNA	SNP	G	G	T			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr15:102516424G>T	ENST00000557932.1	+	0	1372																		p.P449P(4)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGCCGCCACCGCAGCAGCCAC	0.647000													3	28					0.115264	0.118557	1	1	0
SEMA3C	10512	broad.mit.edu	37	7	80457916	80457916	+	Silent	SNP	A	A	G			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr7:80457916A>G	ENST00000265361.3	-	3	810	c.249T>C	c.(247-249)agT>agC	p.S83S	SEMA3C_ENST00000536800.1_Intron|SEMA3C_ENST00000419255.2_Silent_p.S83S|SEMA3C_ENST00000544525.1_Silent_p.S101S	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	83	Sema.				immune response|response to drug	membrane	receptor activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						AAGCTTCTTGACTTATATTGT	0.313000													25	27					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69009322	69009322	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr8:69009322C>A	ENST00000288368.4	+	22	2716	c.2439C>A	c.(2437-2439)gaC>gaA	p.D813E	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	813					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TGACAGTGGACAATGTCCACC	0.438000													5	59					1.23904e-05	1.39392e-05	1	1	0
VWA5A	4013	broad.mit.edu	37	11	123988900	123988900	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr11:123988900G>A	ENST00000456829.2	+	5	502	c.251G>A	c.(250-252)cGc>cAc	p.R84H	VWA5A_ENST00000360334.4_Missense_Mutation_p.R84H|VWA5A_ENST00000392744.4_Missense_Mutation_p.R100H|VWA5A_ENST00000392748.1_Missense_Mutation_p.R84H|VWA5A_ENST00000449321.1_Missense_Mutation_p.R84H|VWA5A_ENST00000361352.5_Missense_Mutation_p.R84H	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	84	VIT.									autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						TCTCAGGCCCGCACCAACTAT	0.552000													3	47					0	0	1	0	0
OR8H3	390152	broad.mit.edu	37	11	55889935	55889935	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr11:55889935T>A	ENST00000313472.3	+	1	87	c.87T>A	c.(85-87)ttT>ttA	p.F29L		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					TGGCTCTGTTTATGCTATTTC	0.453000													61	110					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9057506	9057506	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr19:9057506C>A	ENST00000397910.4	-	3	30143	c.29940G>T	c.(29938-29940)ttG>ttT	p.L9980F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9982	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGGTCCTTGCCAAGGGGGCTG	0.463000													10	165					0.000673444	0.000734666	1	1	0
HIVEP3	59269	broad.mit.edu	37	1	42048550	42048550	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr1:42048550C>A	ENST00000372584.1	-	3	2933	c.1919G>T	c.(1918-1920)gGg>gTg	p.G640V	HIVEP3_ENST00000372583.1_Missense_Mutation_p.G640V|HIVEP3_ENST00000247584.5_Missense_Mutation_p.G640V|HIVEP3_ENST00000429157.2_Missense_Mutation_p.G640V	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	640	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GTAGATCACCCCTTTTGTTTT	0.473000													7	120					0.00307968	0.00326084	1	1	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G	rs146714035	by1000genomes	TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3445								p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413000													3	67					0	0	1	0	0
ZNRD1-AS1	0	broad.mit.edu	37	6	29977342	29977342	+	RNA	SNP	A	A	T	rs116382006	by1000genomes	TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr6:29977342A>T	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000420251.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA																							TGGGACTGAGAGGCAAGATTT	0.438000													3	49					0	0	1	0	0
HIATL1	84641	broad.mit.edu	37	9	97177508	97177508	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr9:97177508G>T	ENST00000375344.3	+	2	446	c.177G>T	c.(175-177)tgG>tgT	p.W59C	HIATL1_ENST00000428393.2_5'UTR	NM_032558.2	NP_115947.2	Q5SR56	HIAL1_HUMAN	hippocampus abundant transcript-like 1	59					transmembrane transport	integral to membrane|plasma membrane	protein binding|transporter activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	11		Acute lymphoblastic leukemia(62;0.136)				TCTTTGCGTGGGGCCTGTTGA	0.393000													40	93					3.4345e-17	3.98845e-17	1	1	0
LINC00969	0	broad.mit.edu	37	3	195400918	195400919	+	RNA	INS	-	-	T	rs55992531	by1000genomes	TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr3:195400918_195400919insT	ENST00000445430.1	+	0	1454																											AGTCttttttctttttttttga	0.525													3	5	---	---	---	---					
SDHAP1	0	broad.mit.edu	37	3	195711343	195711344	+	RNA	INS	-	-	T			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr3:195711343_195711344insT	ENST00000427841.1	-	0	585					NR_003264.2																						AAAGACTTCTCTGTGAGCTTTG	0.381													3	4	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7578547	7578549	+	In_Frame_Del	DEL	GGG	GGG	-			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr17:7578547_7578549delGGG	ENST00000420246.2	-	5	513_515	c.381_383delCCC	c.(379-384)tct>tc	p.SP127del	TP53_ENST00000359597.4_In_Frame_Del_p.SP127del|TP53_ENST00000445888.2_In_Frame_Del_p.SP127del|TP53_ENST00000455263.2_In_Frame_Del_p.SP127del|TP53_ENST00000269305.4_In_Frame_Del_p.SP127del|TP53_ENST00000413465.2_In_Frame_Del_p.SP127del	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	127	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		S -> C (in a sporadic cancer; somatic mutation).|S -> F (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.P128S(7)|p.Y126_K132delYSPALNK(6)|p.Y126_N131delYSPALN(3)|p.P128L(3)|p.P128fs*42(3)|p.S127F(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.P128fs*18(1)|p.P128del(1)|p.Y126fs*11(1)|p.S127S(1)|p.S127_Q136del10(1)|p.P13fs*18(1)|p.P128A(1)|p.?(1)|p.S127fs*42(1)|p.Y126fs*18(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GTTGAGGGCAGGGGAGTACTGTA	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			19	11	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76888722	76888725	+	Frame_Shift_Del	DEL	TTTC	TTTC	-			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chrX:76888722_76888725delTTTC	ENST00000373344.5	-	19	5318_5321	c.5104_5107delGAAA	c.(5104-5109)tafs	p.EI1702fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.EI1664fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1702	Helicase ATP-binding.				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)	TTGTTAAATATTTCTTTAAGTTTC	0.338			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						91	31	---	---	---	---