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
XKR4	114786	broad.mit.edu	37	8	56436610	56436610	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr8:56436610T>C	ENST00000327381.5	+	3	1877	c.1777T>C	c.(1777-1779)Tca>Cca	p.S593P		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	593						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			GATTGAAGAATCAGTCATTAA	0.488000													31	61					0	0	1	0	0
TMEM155	132332	broad.mit.edu	37	4	122681459	122681459	+	Missense_Mutation	SNP	T	T	A			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr4:122681459T>A	ENST00000337677.5	-	6	941	c.383A>T	c.(382-384)aAg>aTg	p.K128M	TMEM155_ENST00000394396.1_Missense_Mutation_p.K128M|TMEM155_ENST00000394394.1_Missense_Mutation_p.K128M	NM_152399.2	NP_689612.2	Q4W5P6	TM155_HUMAN	transmembrane protein 155	128						extracellular region				breast(1)|lung(5)	6						tcagacaatcttgcagatagc	0.403000													16	28					0	0	1	0	0
SSTR3	0	broad.mit.edu	37	22	37603530	37603530	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr22:37603530C>T	ENST00000328544.3	-	2	846	c.313G>A	c.(313-315)Gcc>Acc	p.A105T	SSTR3_ENST00000402501.1_Missense_Mutation_p.A105T	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	105					G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						TAGGACAGGGCGTTCTGGGCG	0.622000													52	73					0	0	1	0	0
NAA10	8260	broad.mit.edu	37	X	153195616	153195616	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chrX:153195616T>C	ENST00000464845.1	-	8	850	c.532A>G	c.(532-534)Aac>Gac	p.N178D	NAA10_ENST00000370015.4_3'UTR|NAA10_ENST00000370009.1_Missense_Mutation_p.N163D|NAA10_ENST00000393712.3_3'UTR	NM_001256120.1|NM_003491.3	NP_001243049.1|NP_003482.1	P41227	NAA10_HUMAN	N(alpha)-acetyltransferase 10, NatA catalytic subunit	178					DNA packaging|internal protein amino acid acetylation|N-terminal protein amino acid acetylation	cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding			breast(1)|endometrium(3)|kidney(1)|lung(3)|ovary(1)|prostate(1)	10						TCCACCTTGTTCTCGATGGCA	0.627000													69	78					0	0	1	0	0
LATS2	26524	broad.mit.edu	37	13	21562142	21562142	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr13:21562142G>A	ENST00000382592.4	-	4	2182	c.1777C>T	c.(1777-1779)Cgc>Tgc	p.R593C	LATS2_ENST00000542899.1_Missense_Mutation_p.R593C	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN	large tumor suppressor kinase 2	593					cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		CTCTTGATGCGTGACTCTCTC	0.512000													18	103					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89948203	89948203	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr5:89948203T>C	ENST00000405460.2	+	19	3553	c.3457T>C	c.(3457-3459)Tct>Cct	p.S1153P		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1153					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGTTTCTGTATCTTGGCAGCT	0.383000													4	140					0	0	1	0	0
GABRA3	2556	broad.mit.edu	37	X	151336930	151336930	+	Missense_Mutation	SNP	A	A	T			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chrX:151336930A>T	ENST00000370314.4	-	10	1487	c.1249T>A	c.(1249-1251)Tcc>Acc	p.S417T	RP11-329E24.6_ENST00000453915.1_RNA|GABRA3_ENST00000535043.1_Missense_Mutation_p.S417T|GABRA3_ENST00000370311.1_Missense_Mutation_p.S417T	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	417					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GCGCCCTTGGAGATGGTGGAA	0.552000													14	280					0	0	1	0	0
OGT	8473	broad.mit.edu	37	X	70776956	70776956	+	Splice_Site	SNP	G	G	T			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chrX:70776956G>T	ENST00000373719.3	+	10	1537		c.e10+1		OGT_ENST00000373701.3_Splice_Site	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase						cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					CATTCATAAGGTACTACTGTT	0.368000													4	31					5.9392e-07	6.1065e-07	1	1	0
INPP5F	22876	broad.mit.edu	37	10	121551532	121551532	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr10:121551532G>A	ENST00000361976.2	+	5	762	c.596G>A	c.(595-597)cGg>cAg	p.R199Q	INPP5F_ENST00000369081.1_Missense_Mutation_p.R103Q|INPP5F_ENST00000369083.3_Missense_Mutation_p.R199Q	NM_014937.3	NP_055752.1	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	199	SAC.						phosphoric ester hydrolase activity			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		AGGGACGGTCGGCCCCTCTGG	0.493000													4	185					0	0	1	0	0
BTN2A3P	0	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs141013110		TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr6:26422353C>T	ENST00000466808.2	+	0	7																		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622000													5	174					0	0	1	0	0
NR3C2	0	broad.mit.edu	37	4	149041414	149041414	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr4:149041414A>G	ENST00000355292.3	-	7	2910	c.2548T>C	c.(2548-2550)Tat>Cat	p.Y850H	NR3C2_ENST00000511528.1_Missense_Mutation_p.Y850H|NR3C2_ENST00000512865.1_Missense_Mutation_p.Y729H|NR3C2_ENST00000344721.4_Missense_Mutation_p.Y846H|NR3C2_ENST00000342437.4_Silent_p.C680C|NR3C2_ENST00000358102.3_Missense_Mutation_p.Y846H			P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	846	Steroid-binding.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	CATAGTTCATACATGGCAGAC	0.448000													3	81					0	0	1	0	0
CD300LG	146894	broad.mit.edu	37	17	41930300	41930300	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr17:41930300C>T	ENST00000317310.4	+	3	441	c.400C>T	c.(400-402)Cct>Tct	p.P134S	CD300LG_ENST00000377203.4_Intron|CD300LG_ENST00000586233.1_Intron|CD300LG_ENST00000539718.1_Missense_Mutation_p.P134S|CD300LG_ENST00000293396.8_Intron	NM_145273.3	NP_660316.2	Q6UXG3	CLM9_HUMAN	CD300 molecule-like family member g	134						apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane	receptor activity			central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19		Breast(137;0.0199)		BRCA - Breast invasive adenocarcinoma(366;0.115)		TCCTCCCTCCCCTTCTCCCAC	0.587000													4	226					0	0	1	0	0
CLEC12A	160364	broad.mit.edu	37	12	10131591	10131591	+	Missense_Mutation	SNP	C	C	T	rs141455664	byFrequency	TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr12:10131591C>T	ENST00000304361.4	+	2	300	c.118C>T	c.(118-120)Cgt>Tgt	p.R40C	CLEC12A_ENST00000434319.2_Missense_Mutation_p.R40C|CLEC12A_ENST00000350667.4_Intron|CLEC12A_ENST00000355690.4_Missense_Mutation_p.R50C	NM_138337.5|NM_201623.3	NP_612210.4|NP_963917.2	Q5QGZ9	CL12A_HUMAN	C-type lectin domain family 12, member A	40						integral to membrane|plasma membrane	receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	16						TCATGTATGGCGTCCAGCAGC	0.433000													39	62					0	0	1	0	0
TMC5	79838	broad.mit.edu	37	16	19451785	19451785	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr16:19451785G>T	ENST00000396229.2	+	3	1174	c.425G>T	c.(424-426)aGc>aTc	p.S142I	TMC5_ENST00000542583.2_Missense_Mutation_p.S142I|TMC5_ENST00000541464.1_Missense_Mutation_p.S142I|TMC5_ENST00000381414.4_Missense_Mutation_p.S142I	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	142	Poly-Ser.					integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GGCTCCAGCAGCAGTGGAAAC	0.498000													5	324					0.014758	0.014758	1	1	0
TMEM216	51259	broad.mit.edu	37	11	61161357	61161357	+	Splice_Site	SNP	T	T	G			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr11:61161357T>G	ENST00000515837.2	+	3	1083	c.136_splice	c.e3-1	p.G46_splice	TMEM216_ENST00000398979.3_5'UTR|TMEM216_ENST00000334888.5_Splice_Site_p.G46_splice			Q9P0N5	TM216_HUMAN	transmembrane protein 216	39						integral to membrane		p.G46G(3)		endometrium(1)|large_intestine(2)|lung(1)|prostate(2)	6						TATTGGCAGGTGTCCTGCTAC	0.438000													7	27					0	0	1	0	0
ABR	29	broad.mit.edu	37	17	915191	915191	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr17:915191G>A	ENST00000544583.2	-	19	2457	c.1858C>T	c.(1858-1860)Cag>Tag	p.Q620*	ABR_ENST00000302538.5_Nonsense_Mutation_p.Q666*|ABR_ENST00000291107.2_Nonsense_Mutation_p.Q629*|ABR_ENST00000574437.1_Nonsense_Mutation_p.Q620*|ABR_ENST00000572441.1_Nonsense_Mutation_p.Q117*|ABR_ENST00000543210.2_Nonsense_Mutation_p.Q117*|ABR_ENST00000536794.2_Nonsense_Mutation_p.Q448*	NM_001159746.2	NP_001153218.1	Q12979	ABR_HUMAN	active BCR-related	666					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		TCCACACACTGCCGGACGATG	0.652000													48	73					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766		TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000389561.2_Silent_p.Q2725Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562000													7	69					0	0	1	0	0
CHRNA5	1138	broad.mit.edu	37	15	78882881	78882881	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr15:78882881G>A	ENST00000299565.5	+	5	1348	c.1148G>A	c.(1147-1149)gGt>gAt	p.G383D	RP11-650L12.2_ENST00000567141.1_RNA|CHRNA5_ENST00000559554.1_Intron	NM_000745.3	NP_000736.2	P30532	ACHA5_HUMAN	cholinergic receptor, nicotinic, alpha 5 (neuronal)	383					behavioral response to nicotine	cell junction|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|skin(3)	15						ACTGAGAGTGGTAGTGGACCA	0.438000													32	56					0	0	1	0	0
GRIPAP1	56850	broad.mit.edu	37	X	48831681	48831681	+	Silent	SNP	C	C	G			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chrX:48831681C>G	ENST00000376441.1	-	25	2353	c.2319G>C	c.(2317-2319)ctG>ctC	p.L773L	GRIPAP1_ENST00000376444.3_Silent_p.L728L|GRIPAP1_ENST00000376425.3_Silent_p.L742L	NM_020137.3	NP_064522.3	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1	773						early endosome				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						GGACGCTGCCCAGCCCGCTGC	0.607000													22	33					0	0	1	0	0
RP13-996F3.4	0	broad.mit.edu	37	15	83014106	83014106	+	Silent	SNP	T	T	C			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr15:83014106T>C	ENST00000557886.1	-	6	576	c.477A>G	c.(475-477)gtA>gtG	p.V159V															p.V159V(12)		endometrium(6)|kidney(5)|prostate(1)	12						GTAGCTGCTCTACCTTAGATG	0.498000													4	4					0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78790138	78790138	+	Missense_Mutation	SNP	A	A	G	rs11999771		TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr9:78790138A>G	ENST00000376767.3	+	14	2505	c.1993A>G	c.(1993-1995)Aaa>Gaa	p.K665E	PCSK5_ENST00000545128.1_Intron|PCSK5_ENST00000376752.4_Intron			Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	0	CRM (Cys-rich motif).				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						gaatggaatgaaatggaatgg	0.423000													3	31					0	0	1	0	0
OR2M3	127062	broad.mit.edu	37	1	248366698	248366698	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr1:248366698C>G	ENST00000456743.1	+	1	367	c.329C>G	c.(328-330)tCt>tGt	p.S110C		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CTGCTTGGCTCTGAGTGCTTT	0.458000													22	286					0	0	1	0	0
HOXA7	3204	broad.mit.edu	37	7	27196035	27196035	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr7:27196035C>T	ENST00000242159.3	-	1	263	c.130G>A	c.(130-132)Gcc>Acc	p.A44T		NM_006896.3	NP_008827.2	P31268	HXA7_HUMAN	homeobox A7	44					angiogenesis|negative regulation of cell-matrix adhesion|negative regulation of keratinocyte differentiation|negative regulation of leukocyte migration|negative regulation of monocyte differentiation|negative regulation of transcription from RNA polymerase II promoter		sequence-specific DNA binding|transcription factor binding			endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|urinary_tract(1)	16						AAGGCGCCGGCGCCCGCCCCG	0.607000													23	143					0	0	1	0	0
SERPINA7	6906	broad.mit.edu	37	X	105280487	105280487	+	Missense_Mutation	SNP	A	A	C			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chrX:105280487A>C	ENST00000327674.4	-	1	898	c.563T>G	c.(562-564)cTa>cGa	p.L188R	SERPINA7_ENST00000372563.1_Missense_Mutation_p.L188R			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	188					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	GTCTTGAATTAGACCCACAAC	0.413000													55	108					0	0	1	0	0
MPPED1	758	broad.mit.edu	37	22	43898541	43898541	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr22:43898541C>A	ENST00000417669.1	+	6	1210	c.766C>A	c.(766-768)Ccc>Acc	p.P256T	MPPED1_ENST00000443721.1_Missense_Mutation_p.P256T|MPPED1_ENST00000542779.1_Missense_Mutation_p.P256T|MPPED1_ENST00000439548.1_Missense_Mutation_p.P98T|MPPED1_ENST00000414469.2_Missense_Mutation_p.P150T|MPPED1_ENST00000538182.1_Missense_Mutation_p.P289T			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1	256							hydrolase activity			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				GGACTGGGTCCCCAAGAAGAT	0.632000													16	137					1.37285e-15	1.45244e-15	1	1	0
SYNE2	23224	broad.mit.edu	37	14	64683079	64683079	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr14:64683079T>C	ENST00000357395.3	+	108	19746	c.8602T>C	c.(8602-8604)Tcc>Ccc	p.S2868P	SYNE2_ENST00000555022.1_Missense_Mutation_p.S361P|SYNE2_ENST00000555002.1_Missense_Mutation_p.S3140P|SYNE2_ENST00000458046.2_Missense_Mutation_p.S140P|SYNE2_ENST00000441438.2_Missense_Mutation_p.S14P|SYNE2_ENST00000554584.1_Missense_Mutation_p.S6425P|SYNE2_ENST00000358025.3_Missense_Mutation_p.S6506P|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.S2868P|SYNE2_ENST00000344113.4_Missense_Mutation_p.S6483P|SYNE2_ENST00000554805.1_Missense_Mutation_p.S266P			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6483					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TCCCCCTGCGTCCAGCACCCC	0.498000													34	46					0	0	1	0	0
SRRM4	84530	broad.mit.edu	37	12	119592158	119592158	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr12:119592158C>T	ENST00000267260.4	+	12	1890	c.1502C>T	c.(1501-1503)cCg>cTg	p.P501L		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	501	Arg-rich.|Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						AGAGACTCCCCGAGCCACCTG	0.632000													17	19					0	0	1	0	0
DRP2	1821	broad.mit.edu	37	X	100490939	100490939	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chrX:100490939G>A	ENST00000395209.3	+	4	735	c.208G>A	c.(208-210)Gcc>Acc	p.A70T	DRP2_ENST00000541709.1_5'UTR|DRP2_ENST00000402866.1_Missense_Mutation_p.A70T|DRP2_ENST00000538510.1_Missense_Mutation_p.A70T	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	70					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						GTCTGTTGGTGCCTCTGGACC	0.517000													95	185					0	0	1	0	0
SEC61A1	29927	broad.mit.edu	37	3	127786281	127786281	+	Silent	SNP	C	C	T			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr3:127786281C>T	ENST00000243253.3	+	10	1177	c.993C>T	c.(991-993)ggC>ggT	p.G331G	RUVBL1_ENST00000464873.1_Intron|SEC61A1_ENST00000464451.1_Silent_p.G337G|SEC61A1_ENST00000424880.2_Silent_p.G211G|SEC61A1_ENST00000483956.1_3'UTR	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit (S. cerevisiae)	331					protein targeting to ER	integral to endoplasmic reticulum membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						CTTCTGGGGGCCCAGCACGTG	0.483000													51	97					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								14	43					0	0	1	0	0
PHYHIP	9796	broad.mit.edu	37	8	22081799	22081799	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr8:22081799C>T	ENST00000454243.2	-	4	972	c.398G>A	c.(397-399)cGc>cAc	p.R133H	PHYHIP_ENST00000321613.3_Missense_Mutation_p.R133H	NM_014759.3	NP_055574.3	Q92561	PHYIP_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein	133										endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	10				Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629)		GCGGAGCATGCGGCCTGCGAT	0.622000													4	72					0	0	1	0	0
FAM154A	158297	broad.mit.edu	37	9	18928550	18928550	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr9:18928550C>T	ENST00000380534.4	-	4	1204	c.925G>A	c.(925-927)Gcc>Acc	p.A309T	FAM154A_ENST00000380530.1_3'UTR|FAM154A_ENST00000542071.1_Missense_Mutation_p.A117T	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A	309										breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		GTGTAATGGGCCTGCACTGTT	0.547000													46	58					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577157	7577157	+	Splice_Site	SNP	T	T	G			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr17:7577157T>G	ENST00000420246.2	-	8	915		c.e8-2		TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000269305.4_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						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.?(11)|p.0?(8)|p.E258fs*71(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)		AGATTACCACTACTCAGGATA	0.512000		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)			11	13					0	0	1	0	0
RGAG4	340526	broad.mit.edu	37	X	71350423	71350423	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chrX:71350423C>T	ENST00000545866.1	-	1	1335	c.968G>A	c.(967-969)cGa>cAa	p.R323Q	RGAG4_ENST00000479991.1_Missense_Mutation_p.R323Q|NHSL2_ENST00000540800.1_Intron			Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	323										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					GATGATATTTCGAACTCCAGG	0.493000													59	111					0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123271073	123271073	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr4:123271073A>G	ENST00000264501.4	+	80	14066	c.13693A>G	c.(13693-13695)Acc>Gcc	p.T4565A	KIAA1109_ENST00000388738.3_Missense_Mutation_p.T4565A			Q2LD37	K1109_HUMAN	KIAA1109	4565					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						ATCAAGGTCAACCACACCAGA	0.393000													4	156					0	0	1	0	0
ZNF81	347344	broad.mit.edu	37	X	47774744	47774744	+	Silent	SNP	T	T	C			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chrX:47774744T>C	ENST00000376954.1	+	6	1067	c.699T>C	c.(697-699)taT>taC	p.Y233Y	ZNF81_ENST00000338637.7_Silent_p.Y233Y			P51508	ZNF81_HUMAN	zinc finger protein 81	233						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				ACTCTTCTTATAGTCACCACG	0.363000													9	79					0	0	1	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130217833	130217833	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chrX:130217833C>T	ENST00000276211.5	+	4	790	c.445C>T	c.(445-447)Cgt>Tgt	p.R149C	ARHGAP36_ENST00000370921.1_Missense_Mutation_p.R13C|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.R137C	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	149	Arg-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						GGCTGCGGGCCGTCGTCGGGG	0.622000													15	240					0	0	1	0	0
WDR93	56964	broad.mit.edu	37	15	90265288	90265288	+	Silent	SNP	T	T	C			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr15:90265288T>C	ENST00000268130.7	+	8	899	c.798T>C	c.(796-798)gaT>gaC	p.D266D	WDR93_ENST00000444934.2_5'UTR|WDR93_ENST00000560294.1_Silent_p.D266D	NM_020212.1	NP_064597.1	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	266					electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH			NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			tgttttAGGATGCAAATGTTA	0.318000													3	46					0	0	1	0	0
RP11-385D13.1	0	broad.mit.edu	37	17	15532459	15532459	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr17:15532459G>A	ENST00000455584.2	-	6	1208	c.1165C>T	c.(1165-1167)Cag>Tag	p.Q389*	TRIM16_ENST00000416464.2_Nonsense_Mutation_p.Q259*|TRIM16_ENST00000336708.7_Nonsense_Mutation_p.Q389*|TRIM16_ENST00000579219.1_Silent_p.C85C|TRIM16_ENST00000577886.1_Nonsense_Mutation_p.Q173*|TRIM16_ENST00000578237.1_Nonsense_Mutation_p.Q389*																							TTCTCCTCCTGCAGCCGGAGA	0.602000													9	69					0	0	1	0	0
RP11-333E13.4	0	broad.mit.edu	37	4	40045275	40045275	+	RNA	SNP	G	G	A			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr4:40045275G>A	ENST00000381811.2	-	0	874					NR_027277.1																						CGTTCCTCCAGTTGGTCTCCA	0.592000													3	40					0	0	1	0	0
KRTAP5-1	387264	broad.mit.edu	37	11	1606186	1606186	+	Silent	SNP	A	A	G	rs137999496		TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr11:1606186A>G	ENST00000382171.2	-	1	327	c.294T>C	c.(292-294)ggT>ggC	p.G98G	KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	98	8 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		AGGAGCCACAACCCCCCTTGG	0.677000													10	92					0	0	1	0	0
TAZ	6901	broad.mit.edu	37	X	153640435	153640435	+	Missense_Mutation	SNP	A	A	T			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chrX:153640435A>T	ENST00000299328.5	+	2	411	c.122A>T	c.(121-123)cAc>cTc	p.H41L	TAZ_ENST00000351413.4_Missense_Mutation_p.H41L|TAZ_ENST00000369790.4_Missense_Mutation_p.H41L|TAZ_ENST00000350743.4_Missense_Mutation_p.H41L|TAZ_ENST00000369776.4_Intron	NM_000116.3	NP_000107.1	Q16635	TAZ_HUMAN	tafazzin	41					cardiac muscle contraction|cardiac muscle tissue development|cardiolipin biosynthetic process|cristae formation|hemopoiesis|mitochondrial ATP synthesis coupled electron transport|mitochondrial respiratory chain complex I assembly|skeletal muscle tissue development	integral to membrane|mitochondrion	1-acylglycerophosphocholine O-acyltransferase activity			lung(1)	1	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TACATGAACCACCTGACCGTG	0.677000											OREG0003602	type=REGULATORY REGION|Gene=DNASE1L1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	17	13					0	0	1	0	0
PIK3R4	30849	broad.mit.edu	37	3	130463923	130463923	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr3:130463923T>C	ENST00000356763.3	-	2	697	c.140A>G	c.(139-141)gAa>gGa	p.E47G		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	47	Protein kinase.				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						GACCAGGCCTTCTCGGTGCTT	0.408000													16	35					0	0	1	0	0
CPZ	8532	broad.mit.edu	37	4	8603122	8603122	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr4:8603122G>A	ENST00000360986.4	+	3	568	c.394G>A	c.(394-396)Gcc>Acc	p.A132T	CPZ_ENST00000315782.6_Missense_Mutation_p.A121T|CPZ_ENST00000382480.2_5'UTR|CPZ_ENST00000506287.1_3'UTR	NM_001014447.2	NP_001014447.1	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	132	FZ.				proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CTGCCAGCCCGCCTTCGACGC	0.677000													5	10					0	0	1	0	0
SH2D1B	117157	broad.mit.edu	37	1	162381781	162381781	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr1:162381781C>T	ENST00000367929.2	-	1	135	c.26G>A	c.(25-27)cGt>cAt	p.R9H	SH2D1B_ENST00000493550.1_5'UTR|SH2D1B_ENST00000359567.3_Missense_Mutation_p.R9H	NM_053282.4	NP_444512.2	O14796	SH21B_HUMAN	SH2 domain containing 1B	9	SH2.									kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			CTTGGTCAGACGTCCATGGTA	0.532000													10	74					0	0	1	0	0
CSTF2	1478	broad.mit.edu	37	X	100077401	100077401	+	Missense_Mutation	SNP	A	A	T			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chrX:100077401A>T	ENST00000415585.2	+	3	321	c.299A>T	c.(298-300)gAg>gTg	p.E100V	CSTF2_ENST00000372972.2_Missense_Mutation_p.E100V|CSTF2_ENST00000486615.1_Intron			P33240	CSTF2_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa	100					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cleavage body|mRNA cleavage and polyadenylation specificity factor complex	nucleotide binding|protein binding|RNA binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						AACAAAGAAGAGCTGAAGAGT	0.418000													18	42					0	0	1	0	0
ARRB2	409	broad.mit.edu	37	17	4619834	4619834	+	Silent	SNP	G	G	C			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr17:4619834G>C	ENST00000269260.2	+	5	521	c.288G>C	c.(286-288)cgG>cgC	p.R96R	ARRB2_ENST00000572457.1_5'UTR|ARRB2_ENST00000575877.1_Silent_p.R96R|ARRB2_ENST00000571206.1_5'UTR|ARRB2_ENST00000570718.1_3'UTR|ARRB2_ENST00000346341.2_Silent_p.R81R|ARRB2_ENST00000412477.3_Silent_p.R96R|ARRB2_ENST00000574954.1_5'UTR|ARRB2_ENST00000381488.6_Silent_p.R81R	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN	arrestin, beta 2	96					cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding			large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						ACCCACCCCGGCCCCCCACCC	0.672000													7	20					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135428469	135428469	+	Silent	SNP	G	G	C			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chrX:135428469G>C	ENST00000394143.1	+	6	2895	c.2604G>C	c.(2602-2604)ctG>ctC	p.L868L	GPR112_ENST00000287534.4_Silent_p.L805L|GPR112_ENST00000412101.1_Silent_p.L663L|GPR112_ENST00000394141.1_Silent_p.L663L|GPR112_ENST00000370652.1_Silent_p.L868L	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	868					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CAACAATGCTGGAAGTGACAG	0.398000													21	225					0	0	1	0	0
HS3ST3A1	9955	broad.mit.edu	37	17	13400056	13400056	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr17:13400056C>T	ENST00000284110.1	-	2	1476	c.679G>A	c.(679-681)Gcg>Acg	p.A227T	HS3ST3A1_ENST00000578576.1_Missense_Mutation_p.A25T	NM_006042.1	NP_006033.1	Q9Y663	HS3SA_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1	227						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GAGATGCGCGCGGGGGCCTCC	0.627000													51	162					0	0	1	0	0
RRN3P2	0	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													3	34					0	0	1	0	0
LETM2	137994	broad.mit.edu	37	8	38262000	38262000	+	Silent	SNP	G	G	A			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr8:38262000G>A	ENST00000379957.4	+	8	1321	c.1194G>A	c.(1192-1194)ccG>ccA	p.P398P	LETM2_ENST00000528827.1_3'UTR|LETM2_ENST00000527710.1_Silent_p.P184P|LETM2_ENST00000524874.1_Silent_p.P350P|LETM2_ENST00000523983.2_Silent_p.P351P|LETM2_ENST00000297720.5_Silent_p.P303P	NM_001199659.1	NP_001186588.1	Q2VYF4	LETM2_HUMAN	leucine zipper-EF-hand containing transmembrane protein 2	398						integral to membrane|mitochondrial inner membrane				NS(1)|large_intestine(1)|lung(3)|prostate(2)	7	all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202)	all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175)	Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114)			AGCCCAAGCCGATTGAGATAC	0.557000													10	57					0	0	1	0	0
LRRC55	219527	broad.mit.edu	37	11	56949447	56949447	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr11:56949447A>G	ENST00000497933.1	+	1	227	c.80A>G	c.(79-81)gAc>gGc	p.D27G		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	0						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						GATTCCATGGACACAGTCCTC	0.607000													11	58					0	0	1	0	0
NEMF	9147	broad.mit.edu	37	14	50269393	50269393	+	Silent	SNP	A	A	C			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr14:50269393A>C	ENST00000298310.5	-	21	2417	c.1968T>G	c.(1966-1968)ctT>ctG	p.L656L	NEMF_ENST00000556925.1_5'UTR|NEMF_ENST00000546046.1_Silent_p.L635L|NEMF_ENST00000545773.1_Silent_p.L614L			O60524	NEMF_HUMAN	nuclear export mediator factor	656						cytoplasm|nucleus				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						GTACCTTAAAAAGGAAGCTAA	0.318000													6	49					0	0	1	0	0
EFS	0	broad.mit.edu	37	14	23828664	23828664	+	Silent	SNP	T	T	G			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr14:23828664T>G	ENST00000216733.3	-	4	1630	c.1023A>C	c.(1021-1023)ccA>ccC	p.P341P	EFS_ENST00000351354.3_Silent_p.P248P|EFS_ENST00000429593.2_Silent_p.P172P	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN	embryonal Fyn-associated substrate	341	Pro-rich.				cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		GCAGGCGGGGTGGGGGTGGGG	0.697000													10	61					0	0	1	0	0
DOCK11	139818	broad.mit.edu	37	X	117773444	117773444	+	Missense_Mutation	SNP	T	T	A			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chrX:117773444T>A	ENST00000276204.6	+	38	4122	c.4048T>A	c.(4048-4050)Tcg>Acg	p.S1350T	DOCK11_ENST00000276202.7_Missense_Mutation_p.S1350T			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1350					blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						AGACCGAAAATCGCAAACCAT	0.413000													14	90					0	0	1	0	0
TLL2	7093	broad.mit.edu	37	10	98129891	98129891	+	Silent	SNP	G	G	A			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr10:98129891G>A	ENST00000357947.3	-	20	3069	c.2844C>T	c.(2842-2844)taC>taT	p.Y948Y		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	948	CUB 5.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		CCATGTAGTCGTAGCCGCAGT	0.667000													11	81					0	0	1	0	0
OR5I1	10798	broad.mit.edu	37	11	55703053	55703053	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr11:55703053A>G	ENST00000301532.3	-	1	823	c.824T>C	c.(823-825)aTt>aCt	p.I275T		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	275					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CACTGAGATAATTTTATCAGT	0.408000													16	27					0	0	1	0	0
CASP1	834	broad.mit.edu	37	11	104897057	104897057	+	Missense_Mutation	SNP	A	A	C			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr11:104897057A>C	ENST00000533400.1	-	9	1178	c.1143T>G	c.(1141-1143)gaT>gaG	p.D381E	CASP1_ENST00000598974.1_Missense_Mutation_p.D381E|CASP1_ENST00000594519.1_Missense_Mutation_p.D240E|CASP1_ENST00000593315.1_Missense_Mutation_p.D360E|CASP1_ENST00000534497.1_Missense_Mutation_p.D240E|CASP1_ENST00000526568.1_Missense_Mutation_p.D288E|CASP1_ENST00000527979.1_Missense_Mutation_p.D344E|CASP1_ENST00000525825.1_Missense_Mutation_p.D360E|CASP1_ENST00000446369.1_Missense_Mutation_p.D240E|CASP1_ENST00000436863.3_Missense_Mutation_p.D381E|CASP1_ENST00000531166.1_Missense_Mutation_p.D65E|CASP1_ENST00000415981.2_Missense_Mutation_p.D65E|CASP1_ENST00000393136.4_Missense_Mutation_p.D360E|CASP1_ENST00000353247.5_Missense_Mutation_p.D65E	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	381					cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)|Penicillamine(DB00859)	GCGCTCTACCATCTGGCTGCT	0.393000													7	67					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577574	7577574	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr17:7577574T>C	ENST00000420246.2	-	7	839	c.707A>G	c.(706-708)tAc>tGc	p.Y236C	TP53_ENST00000445888.2_Missense_Mutation_p.Y236C|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.Y236C|TP53_ENST00000455263.2_Missense_Mutation_p.Y236C|TP53_ENST00000359597.4_Missense_Mutation_p.Y236C|TP53_ENST00000269305.4_Missense_Mutation_p.Y236C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	236	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (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.Y236C(61)|p.0?(8)|p.?(5)|p.Y143C(5)|p.Y236del(4)|p.Y236S(3)|p.Y236_M237delYM(1)|p.I232_Y236delIHYNY(1)|p.H233fs*6(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.Y236fs*4(1)|p.H233_C242del10(1)|p.N235_Y236delNY(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)		GTTACACATGTAGTTGTAGTG	0.572000		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)			40	36					0	0	1	0	0
AR	367	broad.mit.edu	37	X	66863188	66863188	+	Silent	SNP	G	G	C			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chrX:66863188G>C	ENST00000374690.3	+	2	2231	c.1707G>C	c.(1705-1707)ggG>ggC	p.G569G	AR_ENST00000396044.3_Silent_p.G569G|AR_ENST00000504326.1_Silent_p.G569G|AR_ENST00000396043.2_Silent_p.G37G|AR_ENST00000513847.1_3'UTR	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	568					cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	AAGCTTCTGGGTGTCACTATG	0.493000									Androgen Insensitivity Syndrome				5	43					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39799059	39799060	+	Frame_Shift_Ins	INS	-	-	G			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr1:39799059_39799060insG	ENST00000564288.1	+	37	7576_7577	c.6799_6800insG	c.(6799-6801)ggafs	p.G2267fs	MACF1_ENST00000476350.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Frame_Shift_Ins_p.G707fs|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Frame_Shift_Ins_p.G2304fs|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000372915.3_Frame_Shift_Ins_p.G2272fs			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2272					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGATAGTGGCAGGGAAATTTTT	0.391													7	130	---	---	---	---					
RP11-13J8.1	0	broad.mit.edu	37	2	201967218	201967218	+	RNA	DEL	G	G	-			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr2:201967218delG	ENST00000448256.1	+	0	628																											aaaaaaaaaagaaTTTGTTCT	0.463													3	4	---	---	---	---					
STK19	8859	broad.mit.edu	37	6	31939825	31939826	+	Frame_Shift_Ins	INS	-	-	G			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr6:31939825_31939826insG	ENST00000375331.2	+	1	218_219	c.52_53insG	c.(52-54)ggcfs	p.G18fs	DOM3Z_ENST00000337523.5_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.G18fs|DOM3Z_ENST00000478221.1_5'UTR|DOM3Z_ENST00000375349.3_5'UTR	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN	serine/threonine kinase 19	18						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						GCGACAGTGGCGGGCAAACCCC	0.634													8	272	---	---	---	---					
STK19	8859	broad.mit.edu	37	6	31939829	31939830	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr6:31939829_31939830insA	ENST00000375331.2	+	1	222_223	c.56_57insA	c.(55-57)gaafs	p.E19fs	DOM3Z_ENST00000337523.5_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.E19fs|DOM3Z_ENST00000478221.1_5'UTR|DOM3Z_ENST00000375349.3_5'UTR	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN	serine/threonine kinase 19	19						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						CAGTGGCGGGCAAACCCCTCCC	0.634													7	214	---	---	---	---					
ASCL1	429	broad.mit.edu	37	12	103352171	103352172	+	In_Frame_Ins	INS	-	-	GCA	rs71438488		TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr12:103352171_103352172insGCA	ENST00000266744.3	+	1	708_709	c.149_150insGCA	c.(148-150)gca>gGCAca	p.50_50A>GT		NM_004316.3	NP_004307.2	P50553	ASCL1_HUMAN	achaete-scute family bHLH transcription factor 1	50					cerebral cortex GABAergic interneuron differentiation|negative regulation of apoptosis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|noradrenergic neuron fate commitment|Notch signaling pathway|positive regulation of neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|response to retinoic acid|sympathetic nervous system development	nucleus	bHLH transcription factor binding|E-box binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity			NS(3)|large_intestine(1)|lung(1)	5						gcgcagagcgcgcagcagcagc	0.757													5	3	---	---	---	---					
ZZEF1	23140	broad.mit.edu	37	17	4046085	4046085	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr17:4046085delG	ENST00000381638.2	-	1	229	c.105delC	c.(103-105)ccfs	p.P35fs	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	35							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						CGCCCGGGCCGGGGGTCGTGC	0.751													2	4	---	---	---	---					
KANK3	256949	broad.mit.edu	37	19	8398950	8398961	+	In_Frame_Del	DEL	TCGCTGTCGCCA	TCGCTGTCGCCA	-	rs111751275		TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr19:8398950_8398961delTCGCTGTCGCCA	ENST00000330915.3	-	5	1532_1543	c.1467_1478delTGGCGACAGCGA	c.(1465-1479)gag>ga	p.DGDSE489del	KANK3_ENST00000593649.1_In_Frame_Del_p.DGDSE489del	NM_198471.2	NP_940873.2	Q6NY19	KANK3_HUMAN	KN motif and ankyrin repeat domains 3	489								p.D489_S492delDGDS(2)		breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						GCCACCGTTCTCGCTGTCGCCATCGCTGTCGC	0.717													5	6	---	---	---	---					
