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
TTN	7273	broad.mit.edu	37	2	179417788	179417788	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr2:179417788G>A	ENST00000589042.1	-	335	90063	c.89839C>T	c.(89839-89841)Cga>Tga	p.R29947*	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.R21007*|TTN_ENST00000460472.2_Nonsense_Mutation_p.R20882*|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.R21074*|TTN_ENST00000591111.1_Nonsense_Mutation_p.R28306*|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.R27379*|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	28306	Fibronectin type-III 118.						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)			ACTGTGCCTCGAGAAACATGT	0.423000													8	43					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40366226	40366226	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr19:40366226C>T	ENST00000221347.6	-	30	14015	c.14008G>A	c.(14008-14010)Gtg>Atg	p.V4670M		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4670	VWFD 11.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCGGAGATCACGCCGCAGGCG	0.726000													19	70					0	0	1	0	0
RP11-24M17.5	0	broad.mit.edu	37	15	76067993	76067993	+	RNA	SNP	G	G	A			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr15:76067993G>A	ENST00000395215.3	+	0	100																											ACTCAACAGAGTAAATTGGCA	0.532000													6	33					0	0	1	0	0
AGAP1	116987	broad.mit.edu	37	2	236626277	236626277	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr2:236626277A>C	ENST00000304032.8	+	3	879	c.299A>C	c.(298-300)gAg>gCg	p.E100A	AGAP1_ENST00000409538.1_Missense_Mutation_p.E365A|AGAP1_ENST00000336665.5_Missense_Mutation_p.E100A|AGAP1_ENST00000409457.1_Missense_Mutation_p.E100A	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1		Small GTPase-like.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						GTCCAGGAGGAGTCTCCGGAA	0.448000													16	55					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578266	7578266	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr17:7578266T>A	ENST00000420246.2	-	6	715	c.583A>T	c.(583-585)Atc>Ttc	p.I195F	TP53_ENST00000269305.4_Missense_Mutation_p.I195F|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.I195F|TP53_ENST00000455263.2_Missense_Mutation_p.I195F|TP53_ENST00000445888.2_Missense_Mutation_p.I195F|TP53_ENST00000413465.2_Missense_Mutation_p.I195F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	195	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		I -> F (in sporadic cancers; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in a sporadic cancer; somatic mutation).|I -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.I195F(20)|p.0?(8)|p.?(6)|p.I195fs*14(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.I102F(1)|p.I195fs*52(1)|p.L194fs*52(1)|p.I63fs*14(1)|p.I195fs*50(1)|p.I102fs*14(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.I195L(1)|p.P98_E105>Q(1)|p.I63F(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.H193_I195>AP(1)|p.I195fs*12(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)		TCCACTCGGATAAGATGCTGA	0.557000		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)			4	44					0	0	1	0	0
HIST1H4C	8364	broad.mit.edu	37	6	26104327	26104327	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr6:26104327T>C	ENST00000377803.2	+	1	224	c.152T>C	c.(151-153)aTc>aCc	p.I51T		NM_003542.3	NP_003533.1	P62805	H4_HUMAN	histone cluster 1, H4c	51					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7						TCCGGTCTTATCTATGAGGAG	0.542000													10	50					0	0	1	0	0
RNF19B	127544	broad.mit.edu	37	1	33402666	33402666	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr1:33402666C>T	ENST00000373456.7	-	9	1939	c.1940G>A	c.(1939-1941)tGc>tAc	p.C647Y	RNF19B_ENST00000235150.4_Missense_Mutation_p.C646Y|RNF19B_ENST00000356990.5_3'UTR	NM_153341.2	NP_699172.2	Q6ZMZ0	RN19B_HUMAN	ring finger protein 19B	647						integral to membrane	ligase activity|protein binding|zinc ion binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GCTGGCCAGGCAGTCTTTCTG	0.547000													58	81					0	0	1	0	0
CHD9	80205	broad.mit.edu	37	16	53348818	53348818	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr16:53348818T>A	ENST00000566029.1	+	36	7607	c.7398T>A	c.(7396-7398)gaT>gaA	p.D2466E	CHD9_ENST00000447540.1_Missense_Mutation_p.D2467E|CHD9_ENST00000564845.1_Missense_Mutation_p.D2466E|CHD9_ENST00000398510.3_Missense_Mutation_p.D2482E			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2482	Binds A/T-rich DNA.				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				GAATTCCTGATACAGAAAGTC	0.398000													14	82					0	0	1	0	0
CHRM5	1133	broad.mit.edu	37	15	34356257	34356257	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr15:34356257A>G	ENST00000383263.5	+	3	2009	c.1339A>G	c.(1339-1341)Att>Gtt	p.I447V	CHRM5_ENST00000557872.1_Missense_Mutation_p.I447V	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	447					cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)	ACTGAGTGCCATTCTCCTGGC	0.512000													35	64					0	0	1	0	0
AGAP1	116987	broad.mit.edu	37	2	236626276	236626276	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr2:236626276G>T	ENST00000304032.8	+	3	878	c.298G>T	c.(298-300)Gag>Tag	p.E100*	AGAP1_ENST00000409538.1_Nonsense_Mutation_p.E365*|AGAP1_ENST00000336665.5_Nonsense_Mutation_p.E100*|AGAP1_ENST00000409457.1_Nonsense_Mutation_p.E100*	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1		Small GTPase-like.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TGTCCAGGAGGAGTCTCCGGA	0.448000													16	55					2.23348e-06	2.44029e-06	1	1	0
IGHD5-12	28491	broad.mit.edu	37	14	106368513	106368513	+	RNA	SNP	G	G	A			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr14:106368513G>A	ENST00000390581.1	-	0	16																											TGTGGTAATCGTAGCCACTAT	0.607000													20	27					0	0	1	0	0
ABO	28	broad.mit.edu	37	9	136131727	136131727	+	RNA	SNP	T	T	C			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr9:136131727T>C	ENST00000453660.2	-	0	401							P16442	BGAT_HUMAN	ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)						protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	fucosylgalactoside 3-alpha-galactosyltransferase activity|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity|metal ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2)	11				OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)		AGGAACAGCTTCAGGAAAGCC	0.701000													33	41					0	0	1	0	0
LCE3C	353144	broad.mit.edu	37	1	152573380	152573380	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr1:152573380G>A	ENST00000333881.3	+	1	243	c.173G>A	c.(172-174)aGg>aAg	p.R58K		NM_178434.2	NP_848521.1	Q5T5A8	LCE3C_HUMAN	late cornified envelope 3C	58					keratinization					lung(1)	1	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0313)|Kidney(5;0.0367)		AGCCACCACAGGCACTTCAGG	0.642000													73	9					0	0	1	0	0
HAPLN1	1404	broad.mit.edu	37	5	82937364	82937364	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr5:82937364T>A	ENST00000274341.4	-	5	1866	c.1016A>T	c.(1015-1017)gAt>gTt	p.D339V		NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	339	Link 2.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		ATGCTTTTTATCTGGGAAACC	0.517000													10	170					0	0	1	0	0
CYP4F8	11283	broad.mit.edu	37	19	15734031	15734031	+	RNA	SNP	G	G	A			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr19:15734031G>A	ENST00000441682.2	+	0	825							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						TGTGGACGGCGCTTCCACAGG	0.562000													46	47					0	0	1	0	0
OR1Q1	158131	broad.mit.edu	37	9	125377695	125377695	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr9:125377695C>T	ENST00000297913.2	+	1	748	c.679C>T	c.(679-681)Cgg>Tgg	p.R227W	RP11-64P14.7_ENST00000431442.1_RNA	NM_012364.1	NP_036496.1	Q15612	OR1Q1_HUMAN	olfactory receptor, family 1, subfamily Q, member 1	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						GGTGGTCCTCCGGATCCCCTC	0.537000													33	123					0	0	1	0	0
CASC5	57082	broad.mit.edu	37	15	40915064	40915064	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr15:40915064G>A	ENST00000346991.5	+	11	3070	c.2680G>A	c.(2680-2682)Gat>Aat	p.D894N	CASC5_ENST00000527044.1_3'UTR|CASC5_ENST00000399668.2_Missense_Mutation_p.D868N			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	894	2 X 104 AA approximate repeats.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		TTCAGAAGACGATAAGAATGA	0.333000													10	92					0	0	1	0	0
LINC00264	645528	broad.mit.edu	37	10	26880266	26880266	+	RNA	SNP	G	G	A	rs138111133	by1000genomes	TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr10:26880266G>A	ENST00000412114.1	+	0	501					NR_026793.1																						ACCAAGCCCAGTGGACAGATG	0.443000													4	46					0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77377091	77377091	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr9:77377091A>G	ENST00000451710.3	-	26	4733	c.4496T>C	c.(4495-4497)cTa>cCa	p.L1499P	TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.L1499P|TRPM6_ENST00000360774.1_Missense_Mutation_p.L1499P|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.L1494P|TRPM6_ENST00000449912.2_Missense_Mutation_p.L1494P			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1499					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GTTATCAGATAGGGAGCTGTC	0.507000													17	118					0	0	1	0	0
DLK1	8788	broad.mit.edu	37	14	101200659	101200659	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr14:101200659G>A	ENST00000341267.4	+	5	820	c.578G>A	c.(577-579)cGc>cAc	p.R193H	DLK1_ENST00000331224.6_Missense_Mutation_p.R193H	NM_003836.5	NP_003827	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	193	EGF-like 5.				multicellular organismal development	extracellular space|integral to membrane|soluble fraction				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				GGCGACTTCCGCTGCCGGTGC	0.662000													4	62					0	0	1	0	0
AOC1	26	broad.mit.edu	37	7	150556078	150556078	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr7:150556078A>G	ENST00000493429.1	+	5	2382	c.1798A>G	c.(1798-1800)Atg>Gtg	p.M600V	AOC1_ENST00000467291.1_Missense_Mutation_p.M600V|AOC1_ENST00000416793.2_Missense_Mutation_p.M600V|AOC1_ENST00000360937.4_Missense_Mutation_p.M600V|AOC1_ENST00000480582.1_3'UTR					amine oxidase, copper containing 1																		GATCCACTCCATGGCCGACCA	0.647000													5	12					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	C	rs121913499		TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	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	NM_001282387.1	NP_001269316.1	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								24	52					0	0	1	0	0
BCOR	54880	broad.mit.edu	37	X	39932880	39932880	+	Silent	SNP	G	G	T			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chrX:39932880G>T	ENST00000342274.4	-	4	2081	c.1719C>A	c.(1717-1719)gcC>gcA	p.A573A	BCOR_ENST00000378444.4_Silent_p.A573A|BCOR_ENST00000397354.3_Silent_p.A573A|BCOR_ENST00000378455.4_Silent_p.A573A	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	573					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TGGCATTGGGGGCGGGTGATG	0.617000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						4	46					0.00024832	0.000261623	1	1	0
TBP	6908	broad.mit.edu	37	6	170871052	170871052	+	Silent	SNP	G	G	A	rs112083427		TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr6:170871052G>A	ENST00000392092.2	+	3	507	c.228G>A	c.(226-228)caG>caA	p.Q76Q	TBP_ENST00000540980.1_Silent_p.Q56Q|TBP_ENST00000230354.6_Silent_p.Q76Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	76	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	p.Q76Q(4)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcaacagcagcagcagcagc	0.572000													4	59					0	0	1	0	0
IFI35	3430	broad.mit.edu	37	17	41166236	41166236	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr17:41166236G>A	ENST00000415816.2	+	7	1004	c.781G>A	c.(781-783)Ggg>Agg	p.G261R	IFI35_ENST00000438323.2_Missense_Mutation_p.G263R	NM_005533.4	NP_005524.2	P80217	IN35_HUMAN	interferon-induced protein 35	261					response to virus|type I interferon-mediated signaling pathway	nucleus	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.157)		GCCCACCCGCGGGGGCGGGGA	0.622000													39	31					0	0	1	0	0
STOML3	161003	broad.mit.edu	37	13	39564828	39564828	+	Nonsense_Mutation	SNP	G	G	A	rs147878470		TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr13:39564828G>A	ENST00000379631.4	-	1	375	c.31C>T	c.(31-33)Caa>Taa	p.Q11*	STOML3_ENST00000423210.1_5'UTR	NM_145286.2	NP_660329.1	Q8TAV4	STML3_HUMAN	stomatin (EPB72)-like 3	11						integral to membrane|plasma membrane				breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	11		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)		TCTTTATCTTGCTTCTCAGGT	0.388000													17	80					0	0	1	0	0
KIAA0319	9856	broad.mit.edu	37	6	24566850	24566850	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr6:24566850C>A	ENST00000535378.1	-	15	2882	c.2240G>T	c.(2239-2241)cGg>cTg	p.R747L	KIAA0319_ENST00000430948.2_Missense_Mutation_p.R711L|KIAA0319_ENST00000543707.1_Missense_Mutation_p.R756L|KIAA0319_ENST00000378214.3_Missense_Mutation_p.R756L|KIAA0319_ENST00000537886.1_Missense_Mutation_p.R756L	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	756	PKD 5.				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						CTGGCCATCCCGGATCCACAG	0.463000													39	58					2.19358e-23	2.44191e-23	1	1	0
EPHB6	2051	broad.mit.edu	37	7	142568143	142568143	+	Silent	SNP	C	C	T			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr7:142568143C>T	ENST00000392957.2	+	18	3571	c.2784C>T	c.(2782-2784)ggC>ggT	p.G928G	EPHB6_ENST00000442129.1_Silent_p.G928G|EPHB6_ENST00000476059.1_3'UTR|EPHB6_ENST00000411471.2_Silent_p.G651G	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	928						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					TGCAGGCTGGCGGGGACCCAG	0.582000													27	106					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577081	7577081	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr17:7577081T>C	ENST00000420246.2	-	8	989	c.857A>G	c.(856-858)gAa>gGa	p.E286G	TP53_ENST00000269305.4_Missense_Mutation_p.E286G|TP53_ENST00000359597.4_Missense_Mutation_p.E286G|TP53_ENST00000455263.2_Missense_Mutation_p.E286G|TP53_ENST00000445888.2_Missense_Mutation_p.E286G|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	286	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		E -> A (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (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.E286G(18)|p.E286V(9)|p.0?(8)|p.?(2)|p.E286fs*17(2)|p.R283fs*16(2)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.E286A(1)|p.R283fs*56(1)|p.E285fs*13(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(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)		GAGATTCTCTTCCTCTGTGCG	0.562000		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)			48	21					0	0	1	0	0
SPTBN1	6711	broad.mit.edu	37	2	54853094	54853094	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr2:54853094C>T	ENST00000333896.5	+	11	1713	c.1328C>T	c.(1327-1329)gCa>gTa	p.A443V	SPTBN1_ENST00000356805.4_Missense_Mutation_p.A456V	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	456					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GACCTTCCTGCAGTTGAGGCC	0.522000													11	35					0	0	1	0	0
ATAD3C	219293	broad.mit.edu	37	1	1396282	1396282	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr1:1396282C>A	ENST00000378785.2	+	10	1960	c.965C>A	c.(964-966)gCc>gAc	p.A322D		NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C	322							ATP binding|nucleoside-triphosphatase activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CTTAAGCCGGCCACAGAAGGA	0.627000													7	36					0.0293803	0.0293803	1	1	0
ARID1A	8289	broad.mit.edu	37	1	27056286	27056286	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr1:27056286C>T	ENST00000324856.7	+	2	1653	c.1282C>T	c.(1282-1284)Cag>Tag	p.Q428*	ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q428*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q45*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	428					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCAGACCCCGCAGCGGTACCC	0.607000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								11	81					0	0	1	0	0
GPRC5B	51704	broad.mit.edu	37	16	19883181	19883181	+	Silent	SNP	G	G	C			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr16:19883181G>C	ENST00000300571.2	-	2	1178	c.987C>G	c.(985-987)gcC>gcG	p.A329A	GPRC5B_ENST00000535671.1_Silent_p.A329A|GPRC5B_ENST00000537135.1_Silent_p.A355A|GPRC5B_ENST00000569479.1_Silent_p.A329A|GPRC5B_ENST00000569847.1_Silent_p.A329A	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, family C, group 5, member B	329										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						TCTCCATATAGGCCCGCGGCA	0.597000													9	83					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25425489	25425489	+	RNA	SNP	C	C	T			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr15:25425489C>T	ENST00000441592.2	+	0	477																											GCATTGGGTCCGCTGGCCCCA	0.617000													22	30					0	0	1	0	0
CDC42BPG	55561	broad.mit.edu	37	11	64603009	64603009	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr11:64603009C>T	ENST00000342711.5	-	15	1842	c.1843G>A	c.(1843-1845)Gcc>Acc	p.A615T		NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	615					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						TCTCGCAGGGCGGCCACCTCC	0.692000													14	124					0	0	1	0	0
GPRC5B	51704	broad.mit.edu	37	16	19883826	19883826	+	Silent	SNP	G	G	T			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr16:19883826G>T	ENST00000300571.2	-	2	533	c.342C>A	c.(340-342)atC>atA	p.I114I	GPRC5B_ENST00000535671.1_Silent_p.I114I|GPRC5B_ENST00000537135.1_Silent_p.I140I|GPRC5B_ENST00000569479.1_Silent_p.I114I|GPRC5B_ENST00000569847.1_Silent_p.I114I	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, family C, group 5, member B	114										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						CCTCCTGGATGATGAAGGCAA	0.612000													5	27					0.000602214	0.000623345	1	1	0
SNAPIN	23557	broad.mit.edu	37	1	153633756	153633756	+	Silent	SNP	C	C	T			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr1:153633756C>T	ENST00000368685.5	+	4	480	c.390C>T	c.(388-390)ccC>ccT	p.P130P	SNAPIN_ENST00000478558.1_3'UTR	NM_012437.5	NP_036569.1	O95295	SNAPN_HUMAN	SNAP-associated protein	130					intracellular protein transport|synaptic vesicle exocytosis	BLOC-1 complex|cell junction|perinuclear region of cytoplasm|synaptic vesicle membrane|synaptosome	SNARE binding			lung(3)	3	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAATTTACCCCCCTGGCTCCC	0.507000													8	38					0	0	1	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	161918	161918	+	Silent	SNP	A	A	G			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr5:161918A>G	ENST00000283426.6	+	10	1490	c.1440A>G	c.(1438-1440)ctA>ctG	p.L480L		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	480					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		AGAAAGGACTACAGCTGGCGA	0.582000													11	41					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152276467	152276468	+	In_Frame_Ins	INS	-	-	GGA			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr1:152276467_152276468insGGA	ENST00000368799.1	-	3	10929_10930	c.10894_10895insTCC	c.(10894-10896)cag>cTCCag	p.3631_3632insL	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3631	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCTGCTGACTGCTGGTGGTGG	0.554									Ichthyosis				7	911	---	---	---	---					
LOC101927533	101927533	broad.mit.edu	37	2	65738862	65738863	+	RNA	DEL	TG	TG	-			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr2:65738862_65738863delTG	ENST00000377977.3	+	0	862																											TTTTTTTTTTTGTCCAGGAGGC	0.302													2	4	---	---	---	---					
GTF2IRD2P1	401375	broad.mit.edu	37	7	72662349	72662350	+	RNA	DEL	AA	AA	-			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr7:72662349_72662350delAA	ENST00000425256.1	-	0	1007																											ctctgtctccaaaaaaaaaaaa	0.475													3	3	---	---	---	---					
NCS1	23413	broad.mit.edu	37	9	132934945	132934945	+	Translation_Start_Site	DEL	G	G	-			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr9:132934945delG	ENST00000372398.3	+	0	89					NM_014286.3	NP_055101.2	P62166	NCS1_HUMAN	neuronal calcium sensor 1						negative regulation of calcium ion transport via voltage-gated calcium channel activity|regulation of neuron projection development	cell junction|Golgi cisterna membrane|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|protein binding			large_intestine(1)|lung(4)|stomach(1)	6						cgccgAGGATGGGGAAATCCA	0.751													2	4	---	---	---	---					
CADM1	23705	broad.mit.edu	37	11	115375030	115375035	+	In_Frame_Del	DEL	AGCCGG	AGCCGG	-			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr11:115375030_115375035delAGCCGG	ENST00000452722.3	-	1	98_103	c.78_83delCCGGCT	c.(76-84)ctccggctt>ctt	p.26_28LRL>L	CADM1_ENST00000537058.1_In_Frame_Del_p.26_28LRL>L|CADM1_ENST00000331581.6_In_Frame_Del_p.26_28LRL>L|CADM1_ENST00000536727.1_In_Frame_Del_p.26_28LRL>L|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000542447.2_In_Frame_Del_p.26_28LRL>L	NM_014333.3	NP_055148.3	Q9BY67	CADM1_HUMAN	cell adhesion molecule 1						adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		CAACAGCAGAAGCCGGAGCCGGAGCC	0.694													4	6	---	---	---	---					
FOXM1	2305	broad.mit.edu	37	12	2983282	2983283	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr12:2983282_2983283delGA	ENST00000342628.2	-	2	475_476	c.362_363delTC	c.(361-363)ctcfs	p.L121fs	FOXM1_ENST00000537018.1_5'UTR|FOXM1_ENST00000361953.3_Frame_Shift_Del_p.L121fs|FOXM1_ENST00000359843.3_Frame_Shift_Del_p.L121fs	NM_202002.2	NP_973731.1	Q08050	FOXM1_HUMAN	forkhead box M1	121					cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			TTTGAGGCCGGAGTCCTGGAGG	0.540													27	120	---	---	---	---					
TPTEP1	387590	broad.mit.edu	37	22	17131536	17131537	+	RNA	INS	-	-	CTG	rs34452519		TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr22:17131536_17131537insCTG	ENST00000426585.1	+	0	2562_2563																											TGCCCACTCTTCTGGTCTCATG	0.540													2	4	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76938601	76938605	+	Frame_Shift_Del	DEL	AATTT	AATTT	-			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chrX:76938601_76938605delAATTT	ENST00000373344.5	-	9	2357_2361	c.2143_2147delAAATT	c.(2143-2148)aaattgfs	p.KL715fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.KL677fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	715					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)	AGATTTTGGCAATTTATTAGGCTTA	0.361			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						25	118	---	---	---	---					
