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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
APOB	338	broad.mit.edu	37	2	21227213	21227213	+	Silent	SNP	G	A	A			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr2:21227213G>A	uc002red.3	-	27	12143	c.12015C>T	c.(12013-12015)gcC>gcT	p.A4005A		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	4005					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CGGTGCCTACGGCTGGGGAGG	0.507000														38			37		0	0	0.004878	0	0
ZNF878	729747	broad.mit.edu	37	19	12155757	12155757	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr19:12155757C>A	uc021upl.1	-	3	625	c.459G>T	c.(457-459)agG>agT	p.R153S	ZNF878_uc002mta.1_Missense_Mutation_p.R200S	NM_001080404	NP_001073873	C9JN71	ZN878_HUMAN	Homo sapiens zinc finger protein 878 (ZNF878), mRNA.	153					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						AACTGGGAAACCTGAATGCTT	0.423000														138			4		0.000602214	0.000675655	0.000602	1	0
SPANXN5	494197	broad.mit.edu	37	X	52825543	52825543	+	Silent	SNP	C	T	T			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chrX:52825543C>T	uc004drc.1	-	1	204	c.204G>A	c.(202-204)gaG>gaA	p.E68E		NM_001009616	NP_001009616	Q5MJ07	SPXN5_HUMAN	Homo sapiens SPANX family, member N5 (SPANXN5), mRNA.	68								p.E68*(1)		large_intestine(1)|lung(5)|skin(2)	8	Ovarian(276;0.236)					ACTGGTCATTCTCCAGTTGAT	0.418000														149			6		0	0	0.001168	0	0
TGM7	116179	broad.mit.edu	37	15	43584939	43584939	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr15:43584939G>A	uc001zrf.1	-	2	412	c.407C>T	c.(406-408)aCt>aTt	p.T136I		NM_052955	NP_443187	Q96PF1	TGM7_HUMAN	Homo sapiens transglutaminase 7 (TGM7), mRNA.	136					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	TAGGATGAAAGTTCCCAGCGG	0.478000														86			66		0	0	0.014410	0	0
ADCY3	109	broad.mit.edu	37	2	25062839	25062839	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr2:25062839C>T	uc010ykm.2	-	5	1457	c.1258G>A	c.(1258-1260)Gtg>Atg	p.V420M	ADCY3_uc002rfr.4_Missense_Mutation_p.V31M|ADCY3_uc002rfs.4_Missense_Mutation_p.V420M	NM_004036	NP_004027	O60266	ADCY3_HUMAN	Homo sapiens adenylate cyclase 3 (ADCY3), mRNA.	420					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding	p.V420M(2)		NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					CCCCCCAGCACGGTGCCCGTG	0.642000														106			16		0	0	0.006122	0	0
VWF	7450	broad.mit.edu	37	12	6128787	6128787	+	Missense_Mutation	SNP	G	A	A	rs61749370		TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr12:6128787G>A	uc001qnn.1	-	27	4047	c.3797C>T	c.(3796-3798)cCg>cTg	p.P1266L	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	1266			P -> L (in VWD2).		blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	ATCGTGCAACGGCGGTTCCGA	0.612000														44			24		0	0	0.005443	0	0
KCNJ1	3758	broad.mit.edu	37	11	128710111	128710111	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr11:128710111C>T	uc001qeo.1	-	1	136	c.85G>A	c.(85-87)Gtc>Atc	p.V29I	KCNJ1_uc001qep.1_Missense_Mutation_p.V10I|KCNJ1_uc001qeq.1_Missense_Mutation_p.V10I|KCNJ1_uc001qer.1_Missense_Mutation_p.V10I|KCNJ1_uc001qes.1_Missense_Mutation_p.V10I|KCNJ1_uc021qsb.1_Missense_Mutation_p.V10I	NM_000220	NP_000211	P48048	IRK1_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 1 (KCNJ1), transcript variant rom-k1, mRNA.	29					excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)	AAGCGAGTGACGACCCATTTC	0.408000														92			9		0	0	0.008291	0	0
FLNB	2317	broad.mit.edu	37	3	58095050	58095050	+	Splice_Site	SNP	G	C	C			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr3:58095050G>C	uc003djj.2	+	14	2364	c.2199_splice	c.e14+1	p.R733_splice	FLNB_uc010hne.2_Splice_Site_p.R733_splice|FLNB_uc003djk.2_Splice_Site_p.R733_splice|FLNB_uc010hnf.2_Splice_Site_p.R733_splice|FLNB_uc003djl.2_Splice_Site_p.R564_splice|FLNB_uc003djm.2_Splice_Site_p.R564_splice	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	733					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CCCCTACAGGGTAGGTTGTGA	0.552000														13			7		0	0	0.003080	0	0
MYH2	4620	broad.mit.edu	37	17	10432336	10432336	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr17:10432336C>T	uc010coi.3	-	26	3543	c.3415G>A	c.(3415-3417)Gag>Aag	p.E1139K	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.E1139K|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1139					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CGCTGCTTCTCTGCTTTGGCC	0.582000														70			34		0	0	0.013726	0	0
TMEM8A	58986	broad.mit.edu	37	16	427459	427459	+	Silent	SNP	G	A	A			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr16:427459G>A	uc002cgu.4	-	2	555	c.426C>T	c.(424-426)tcC>tcT	p.S142S	TMEM8A_uc002cgv.4_5'UTR	NM_021259	NP_067082	Q9HCN3	TMM8A_HUMAN	Homo sapiens transmembrane protein 8A (TMEM8A), mRNA.	142					cell adhesion	integral to plasma membrane				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						AAACGTTGACGGAGGCATTGC	0.677000											OREG0003703	type=REGULATORY REGION|Gene=TMEM8|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		21			10		0	0	0.002450	0	0
ACSBG1	23205	broad.mit.edu	37	15	78475123	78475123	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr15:78475123C>T	uc002bdh.3	-	5	874	c.668G>A	c.(667-669)tGg>tAg	p.W223*	ACSBG1_uc010umx.2_5'UTR|ACSBG1_uc010umw.2_Nonsense_Mutation_p.W219*|ACSBG1_uc010umy.2_Nonsense_Mutation_p.W116*	NM_015162	NP_055977	Q96GR2	ACBG1_HUMAN	Homo sapiens acyl-CoA synthetase bubblegum family member 1 (ACSBG1), transcript variant 1, mRNA.	223					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity	p.W223S(2)|p.W223*(2)		endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						CAACTGTTTCCAGATCTGCAT	0.463000														37			24		0	0	0.003330	0	0
FAM50A	9130	broad.mit.edu	37	X	153678570	153678570	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chrX:153678570A>C	uc004fll.4	+	11	1024	c.914A>C	c.(913-915)aAg>aCg	p.K305T		NM_004699	NP_004690	Q14320	FA50A_HUMAN	Homo sapiens family with sequence similarity 50, member A (FAM50A), mRNA.	305					spermatogenesis	nucleus				breast(2)|central_nervous_system(1)|lung(9)|ovary(2)|skin(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-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)					CATGCAGGCAAGGTGGTGCTG	0.607000														129			6		0	0	0.004482	0	0
FCGBP	8857	broad.mit.edu	37	19	40367841	40367841	+	Silent	SNP	T	G	G			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr19:40367841T>G	uc002omp.4	-	28	13127	c.13119A>C	c.(13117-13119)gcA>gcC	p.A4373A		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	4373	TIL 10.					extracellular region	protein binding	p.A4373A(4)		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)			TCGTAAGGGGTGCAGGGGACG	0.627000														14			7		0	0	0.004007	0	0
TIMD4	91937	broad.mit.edu	37	5	156378778	156378778	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr5:156378778C>T	uc003lwh.2	-	2	481	c.424G>A	c.(424-426)Gca>Aca	p.A142T	TIMD4_uc010jii.2_Missense_Mutation_p.A142T	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	Homo sapiens T-cell immunoglobulin and mucin domain containing 4 (TIMD4), transcript variant 1, mRNA.	142	Thr-rich.					integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTGGTGGTTGCTGTTCTGTGC	0.502000														401			15		0	0	0.004990	0	0
CES3	23491	broad.mit.edu	37	16	66997813	66997813	+	Missense_Mutation	SNP	C	T	T	rs148620443	byFrequency	TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr16:66997813C>T	uc002eqt.3	+	3	614	c.535C>T	c.(535-537)Cgc>Tgc	p.R179C	CES3_uc010cdz.3_Missense_Mutation_p.R179C	NM_024922	NP_079198	Q6UWW8	EST3_HUMAN	Homo sapiens carboxylesterase 3 (CES3), transcript variant 1, mRNA.	179						endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		AGTCCAGTACCGCCTTGGGGT	0.607000														59			57		0	0	0.014410	0	0
HSPG2	3339	broad.mit.edu	37	1	22198783	22198783	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr1:22198783C>T	uc009vqd.3	-	32	4160	c.4120G>A	c.(4120-4122)Gtg>Atg	p.V1374M	HSPG2_uc001bfj.3_Missense_Mutation_p.V1373M	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	1373	Laminin IV type A 3.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	ACGGGTTCCACAGTGAATTCT	0.592000														1			2		0	0	0.004672	0	0
KRT16P2	400578	broad.mit.edu	37	17	16734855	16734855	+	Missense_Mutation	SNP	C	T	T	rs688852	by1000genomes	TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr17:16734855C>T	uc010vwr.1	-	2	720	c.278G>A	c.(277-279)cGg>cAg	p.R93Q						Homo sapiens keratin 16 pseudogene 2 (KRT16P2), non-coding RNA.									p.R183Q(1)									CACAGTCTGCCGCAGGGCCAG	0.632000														48			6		0	0	0.006214	0	0
GLUD1	2746	broad.mit.edu	37	10	88819949	88819949	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr10:88819949A>C	uc001keh.3	-	8	1497	c.1247T>G	c.(1246-1248)aTc>aGc	p.I416S	GLUD1_uc001keg.3_Missense_Mutation_p.I249S|GLUD1_uc010qmp.2_Missense_Mutation_p.I283S	NM_005271	NP_005262	P00367	DHE3_HUMAN	Homo sapiens glutamate dehydrogenase 1 (GLUD1), nuclear gene encoding mitochondrial protein, mRNA.	416					glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion	mitochondrial matrix	ADP binding|ATP binding|GTP binding|NAD+ binding|glutamate dehydrogenase|glutamate dehydrogenase activity|identical protein binding|leucine binding			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1)	22					L-Glutamic Acid(DB00142)|NADH(DB00157)	CTCCAGGAAGATCTTGTCAGC	0.398000														157			7		0	0	0.006214	0	0
MUC4	4585	broad.mit.edu	37	3	195511870	195511870	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr3:195511870G>A	uc021xjp.1	-	1	6737	c.6581C>T	c.(6580-6582)cCt>cTt	p.P2194L	MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	983					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTCGGTGACAGGAAGAGGGGT	0.592000														7			4		0	0	0.004482	0	0
SUMF2	25870	broad.mit.edu	37	7	56145816	56145816	+	Nonsense_Mutation	SNP	A	T	T			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr7:56145816A>T	uc011kcw.2	+	6	701	c.670A>T	c.(670-672)Aaa>Taa	p.K224*	PSPH_uc003trj.3_Intron|SUMF2_uc011kcv.2_Non-coding_Transcript|SUMF2_uc003trt.3_Nonsense_Mutation_p.K117*|SUMF2_uc003trv.3_Nonsense_Mutation_p.K224*|SUMF2_uc011kcy.2_Nonsense_Mutation_p.K209*|SUMF2_uc011kcz.2_Nonsense_Mutation_p.K140*|SUMF2_uc003trx.3_Non-coding_Transcript|SUMF2_uc011kda.2_5'UTR|SUMF2_uc011kcx.2_Nonsense_Mutation_p.K155*	NM_015411	NP_001139805	Q8NBJ7	SUMF2_HUMAN	Homo sapiens sulfatase modifying factor 2 (SUMF2), transcript variant 2, mRNA.	205						endoplasmic reticulum lumen	metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CAAGGGAGACAAAGCTGAGGA	0.532000														117			16		0	0	0.004990	0	0
CCDC89	220388	broad.mit.edu	37	11	85397064	85397064	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr11:85397064G>A	uc001pau.1	-	0	257	c.110C>T	c.(109-111)aCg>aTg	p.T37M		NM_152723	NP_689936	Q8N998	CCD89_HUMAN	Homo sapiens coiled-coil domain containing 89 (CCDC89), mRNA.	37						cytoplasm|nucleus				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				CTTAAACTCCGTCTCCTCTTC	0.552000														57			5		0	0	0.000602	0	0
FLJ00322	0	broad.mit.edu	37	16	15023266	15023266	+	Missense_Mutation	SNP	C	G	G			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr16:15023266C>G	uc010uzk.2	+	5	1111	c.835C>G	c.(835-837)Ctg>Gtg	p.L279V	NPIP_uc002dcx.4_Non-coding_Transcript					SubName: Full=cDNA FLJ57488, highly similar to Polycystin-1;																		CGAGGAGCCCCTGACGCTGGC	0.701000														28			3		0	0	0.004672	0	0
PKN1	5585	broad.mit.edu	37	19	14574736	14574736	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr19:14574736C>T	uc002myp.3	+	10	1760	c.1592C>T	c.(1591-1593)aCc>aTc	p.T531I	PKN1_uc002myq.3_Missense_Mutation_p.T537I	NM_002741	NP_002732	Q16512	PKN1_HUMAN	Homo sapiens protein kinase N1 (PKN1), transcript variant 2, mRNA.	531					activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	ATP binding|GTP-Rho binding|Rac GTPase binding|androgen receptor binding|chromatin binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						GGCACAGGCACCTTTAGCCCT	0.667000														25			3		0	0	0.004672	0	0
AK310228	0	broad.mit.edu	37	16	16465310	16465310	+	Silent	SNP	C	T	T			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr16:16465310C>T	uc002dey.2	+	0	314	c.27C>T	c.(25-27)gcC>gcT	p.A9A						SubName: Full=cDNA FLJ42525 fis, clone BRACE3001391, highly similar to Polycystin;																		AGGCCGGCGCCCAGATCCCCA	0.622000														99			5		0	0	0.001168	0	0
RFXANK	8625	broad.mit.edu	37	19	19307810	19307810	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr19:19307810C>T	uc002nls.3	+	3	731	c.226C>T	c.(226-228)Cgg>Tgg	p.R76W	RFXANK_uc002nlt.3_Missense_Mutation_p.R75W|RFXANK_uc002nlu.3_Missense_Mutation_p.R76W|RFXANK_uc002nlv.3_Missense_Mutation_p.R76W|RFXANK_uc021uqt.1_Missense_Mutation_p.R75W	NM_003721	NP_003712	O14593	RFXK_HUMAN	Homo sapiens regulatory factor X-associated ankyrin-containing protein (RFXANK), transcript variant 1, mRNA.	76						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			NS(1)|breast(1)|endometrium(1)|lung(8)|ovary(2)|prostate(1)	14			Epithelial(12;0.00228)			TCTCACCAACCGGCAGCGAGG	0.617000														185			23		0	0	0.009535	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	T	T	rs121913500		TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	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|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(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									56			33		0	0	0.006230	0	0
KLHL15	80311	broad.mit.edu	37	X	24006740	24006740	+	Silent	SNP	T	C	C			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chrX:24006740T>C	uc004dba.4	-	3	1369	c.1113A>G	c.(1111-1113)gaA>gaG	p.E371E		NM_030624	NP_085127	Q96M94	KLH15_HUMAN	Homo sapiens kelch-like 15 (Drosophila) (KLHL15), mRNA.	371										autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						CTACAGCAAATTCAGAGCGTG	0.458000														109			87		0	0	0.014410	0	0
FFAR3	2865	broad.mit.edu	37	19	35850577	35850577	+	Missense_Mutation	SNP	C	T	T	rs141433014		TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr19:35850577C>T	uc002nzd.3	+	1	860	c.785C>T	c.(784-786)aCg>aTg	p.T262M	FFAR3_uc021usm.1_Missense_Mutation_p.T262M	NM_005304	NP_005295	O14843	FFAR3_HUMAN	Homo sapiens free fatty acid receptor 3 (FFAR3), mRNA.	262						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			ATCTACGTGACGCTTCTCAGC	0.567000														232			6		0	0	0.001984	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117801	117801	+	RNA	SNP	G	A	A			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chrGL000205.1:117801G>A	uc002kgk.4	+	0		c.1179G>A								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GGGATCGAGCGGTCCCTGGGT	0.552000														128			4		0	0	0.000602	0	0
GATC	283459	broad.mit.edu	37	12	120894951	120894951	+	Silent	SNP	C	T	T			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr12:120894951C>T	uc010szi.2	+	2	370	c.327C>T	c.(325-327)cgC>cgT	p.R109R	GATC_uc021rev.1_Non-coding_Transcript	NM_176818	NP_789788	O43716	GATCL_HUMAN	Homo sapiens glutamyl-tRNA(Gln) amidotransferase, subunit C homolog (bacterial) (GATC), transcript variant 1, mRNA.	109					regulation of translational fidelity					breast(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	6	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACTCCCATCGCGTCGTGGAGG	0.478000											OREG0022192	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		29			13		0	0	0.007413	0	0
FLNA	2316	broad.mit.edu	37	X	153593776	153593776	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chrX:153593776A>T	uc004fkk.2	-	9	1757	c.1508T>A	c.(1507-1509)tTc>tAc	p.F503Y	FLNA_uc010nuu.1_Missense_Mutation_p.F503Y	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.	503					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	Fc-gamma receptor I complex binding|GTP-Ral binding|Rac GTPase binding|actin filament binding|glycoprotein binding|protein homodimerization activity|signal transducer activity|transcription factor binding			breast(6)	6	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)					GTACACCTTGAAGTCAGCTGT	0.672000														85			8		0	0	0.004482	0	0
CNNM2	54805	broad.mit.edu	37	10	104809481	104809481	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr10:104809481A>G	uc001kwm.3	+	1	1802	c.1639A>G	c.(1639-1641)Atc>Gtc	p.I547V	CNNM2_uc001kwn.3_Missense_Mutation_p.I547V	NM_017649	NP_060119	Q9H8M5	CNNM2_HUMAN	Homo sapiens cyclin M2 (CNNM2), transcript variant 1, mRNA.	547	CBS 2.				ion transport	integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		TCACCTGGCTATCGTGCAGCG	0.378000														128			7		0	0	0.004482	0	0
SOX3	6658	broad.mit.edu	37	X	139586763	139586763	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chrX:139586763G>A	uc004fbd.1	-	0	463	c.463C>T	c.(463-465)Cgc>Tgc	p.R155C		NM_005634	NP_005625	P41225	SOX3_HUMAN	Homo sapiens SRY (sex determining region Y)-box 3 (SOX3), mRNA.	155					face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent	nucleus	DNA binding	p.R155C(2)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10	Acute lymphoblastic leukemia(192;7.65e-05)					GCCATTTTGCGCCGCTGCCCG	0.632000														36			35		0	0	0.004878	0	0
LRRC18	474354	broad.mit.edu	37	10	50122058	50122058	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr10:50122058C>T	uc001jhd.3	-	0	223	c.143G>A	c.(142-144)cGc>cAc	p.R48H	WDFY4_uc001jha.4_Intron|LRRC18_uc001jhe.1_Missense_Mutation_p.R48H	NM_001006939	NP_001006940	Q8N456	LRC18_HUMAN	Homo sapiens leucine rich repeat containing 18 (LRRC18), mRNA.	48						cytoplasm				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						GTCACTAAGGCGCAGAATACA	0.507000														42			23		0	0	0.003330	0	0
CDH23	64072	broad.mit.edu	37	10	73544798	73544798	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr10:73544798C>T	uc001jrx.4	+	40	6034	c.5644C>T	c.(5644-5646)Cgc>Tgc	p.R1882C		NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	1885	Cadherin 18.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CTGCAATGCACGCCTCACCTT	0.602000														105			10		0	0	0.010729	0	0
ZNF238	10472	broad.mit.edu	37	1	244217153	244217154	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr1:244217153_244217154delAG	uc001iad.4	+	1	250_251	c.77_78delAG	c.(76-78)cagfs	p.Q26fs	ZNF238_uc001iae.3_Frame_Shift_Del_p.Q17fs|ZNF238_uc001iaf.1_Frame_Shift_Del_p.Q17fs	NM_205768	NP_006343	Q99592	ZN238_HUMAN	Homo sapiens zinc finger protein 238 (ZNF238), transcript variant 1, mRNA.	17	BTB.				negative regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(5)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38	all_cancers(71;6.42e-05)|all_epithelial(71;7e-05)|Breast(184;0.0333)|Ovarian(71;0.0619)|all_lung(81;0.089)|all_neural(11;0.101)|Lung NSC(105;0.123)		all cancers(7;1.35e-08)|GBM - Glioblastoma multiforme(7;1e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00223)			CTGAGCGAGCAGAGACACCAGG	0.505													---	76	---	---	7	---					
BRE	9577	broad.mit.edu	37	2	28210865	28210865	+	Frame_Shift_Del	DEL	A	-	-			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr2:28210865delA	uc002rls.3	+	3	463	c.211delA	c.(211-213)atcfs	p.I71fs	BRE_uc002rlp.1_Frame_Shift_Del_p.I71fs|BRE_uc002rlq.3_Frame_Shift_Del_p.I71fs|BRE_uc002rlr.3_Frame_Shift_Del_p.I71fs|BRE_uc002rlt.3_Frame_Shift_Del_p.I71fs|BRE_uc002rlu.3_Frame_Shift_Del_p.I71fs|BRE_uc002rlv.3_5'UTR|BC048132_uc002rlw.3_5'Flank	NM_004899	NP_004890	Q9NXR7	BRE_HUMAN	Homo sapiens brain and reproductive organ-expressed (TNFRSF1A modulator) (BRE), transcript variant 1, mRNA.	71	UEV-like 1.				G2/M transition DNA damage checkpoint|apoptosis|chromatin modification|double-strand break repair|positive regulation of DNA repair|positive regulation of anti-apoptosis|response to ionizing radiation|signal transduction	BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex	peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					TTCAGGGGATATCATTTTCAA	0.378													---	237	---	---	12	---					
GBX2	2637	broad.mit.edu	37	2	237076427	237076429	+	In_Frame_Del	DEL	GGC	-	-			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr2:237076427_237076429delGGC	uc002vvw.1	-	0	224_226	c.186_188delGCC	c.(184-189)ccgccc>ccc	p.62_63PP>P	GBX2_uc010zng.1_In_Frame_Del_p.52_53PP>P	NM_001485	NP_001476	P52951	GBX2_HUMAN	Homo sapiens gastrulation brain homeobox 2 (GBX2), mRNA.	62	Poly-Pro.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)		GGGCAGCGCGggcggcggcggcg	0.754													---	4	---	---	2	---					
FETUB	26998	broad.mit.edu	37	3	186362544	186362544	+	Frame_Shift_Del	DEL	A	-	-			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr3:186362544delA	uc010hyq.3	+	4	690	c.429delA	c.(427-429)tcafs	p.S143fs	FETUB_uc011brz.2_5'UTR|FETUB_uc003fqn.3_Frame_Shift_Del_p.S143fs|FETUB_uc010hyr.3_Frame_Shift_Del_p.S106fs|FETUB_uc010hys.3_5'UTR|FETUB_uc003fqp.4_Frame_Shift_Del_p.S78fs	NM_014375	NP_055190	Q9UGM5	FETUB_HUMAN	Homo sapiens fetuin B (FETUB), mRNA.	143						extracellular space	cysteine-type endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		CAACAGTTTCAAAAAAAAAGA	0.418													---	123	---	---	9	---					
JARID2	3720	broad.mit.edu	37	6	15504753	15504755	+	In_Frame_Del	DEL	CTT	-	-			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr6:15504753_15504755delCTT	uc003nbj.3	+	8	2715_2717	c.2471_2473delCTT	c.(2470-2475)actttt>att	p.824_825TF>I	JARID2_uc011div.2_In_Frame_Del_p.652_653TF>I|JARID2_uc011diw.1_In_Frame_Del_p.786_787TF>I	NM_004973	NP_004964	Q92833	JARD2_HUMAN	Homo sapiens jumonji, AT rich interactive domain 2 (JARID2), mRNA.	824					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				TCTCTAACAACTTTTTATCGAAC	0.483													---	70	---	---	11	---					
ZNF292	23036	broad.mit.edu	37	6	87965943	87965944	+	Frame_Shift_Del	DEL	GA	-	-			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr6:87965943_87965944delGA	uc003plm.4	+	7	2637_2638	c.2596_2597delGA	c.(2596-2598)gagfs	p.E866fs		NM_015021	NP_055836	O60281	ZN292_HUMAN	Homo sapiens zinc finger protein 292 (ZNF292), mRNA.	866					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L866L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		AGAGAATATTGAGAAAGAAAGA	0.401													---	54	---	---	7	---					
ZNF292	23036	broad.mit.edu	37	6	87966376	87966377	+	Frame_Shift_Del	DEL	CT	-	-			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr6:87966376_87966377delCT	uc003plm.4	+	7	3070_3071	c.3029_3030delCT	c.(3028-3030)actfs	p.T1010fs		NM_015021	NP_055836	O60281	ZN292_HUMAN	Homo sapiens zinc finger protein 292 (ZNF292), mRNA.	1010					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		AATTCAGAAACTCTCAAAATAG	0.356													---	29	---	---	11	---					
SPDYE1	285955	broad.mit.edu	37	7	44042300	44042301	+	Frame_Shift_Del	DEL	CT	-	-			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr7:44042300_44042301delCT	uc003tjf.3	+	1	507_508	c.371_372delCT	c.(370-372)cctfs	p.P124fs	POLR2J4_uc003tjc.2_Intron|POLR2J4_uc003tjd.3_Intron|POLR2J4_uc010kxw.2_Intron|POLR2J4_uc003tje.4_Intron	NM_175064	NP_778234	Q8NFV5	SPDE1_HUMAN	Homo sapiens speedy homolog E1 (Xenopus laevis) (SPDYE1), mRNA.	124										endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	11						GTGCTCGCCCCTGAGCCTGAGG	0.614													---	25	---	---	19	---					
ASL	435	broad.mit.edu	37	7	65554152	65554155	+	Frame_Shift_Del	DEL	TGTT	-	-			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr7:65554152_65554155delTGTT	uc003tup.3	+	10	1143_1146	c.908_911delTGTT	c.(907-912)gtgtttfs	p.V303fs	ASL_uc003tuo.3_Frame_Shift_Del_p.V303fs|ASL_uc003tur.3_Frame_Shift_Del_p.V277fs|ASL_uc003tuq.3_Frame_Shift_Del_p.V303fs	NM_001024943	NP_001020114	P04424	ARLY_HUMAN	Homo sapiens argininosuccinate lyase (ASL), transcript variant 1, mRNA.	303					arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle	cytosol	argininosuccinate lyase activity			breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	GCTGGGCGTGTGTTTGGGCGGGTG	0.672													---	88	---	---	10	---					
GNAI1	2770	broad.mit.edu	37	7	79846804	79846805	+	Frame_Shift_Del	DEL	TT	-	-			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr7:79846804_79846805delTT	uc003uhb.1	+	7	1397_1398	c.1060_1061delTT	c.(1060-1062)tttfs	p.F354fs	GNAI1_uc011kgt.1_Frame_Shift_Del_p.F302fs	NM_002069	NP_002060	P63096	GNAI1_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1 (GNAI1), transcript variant 1, mRNA.	354					cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody|nucleus	G-protein beta/gamma-subunit complex binding|GTP binding|metabotropic serotonin receptor binding|signal transducer activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	19						TTGTGGTCTCTTTTAAGTTTTG	0.342													---	28	---	---	13	---					
CLU	1191	broad.mit.edu	37	8	27466456	27466459	+	Splice_Site	DEL	TCTT	-	-			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr8:27466456_27466459delTCTT	uc003xfy.2	-	3	426	c.279_splice	c.e3+1	p.E93_splice	CLU_uc003xfw.2_Splice_Site_p.E82_splice|CLU_uc003xfx.2_Splice_Site_p.E82_splice|CLU_uc003xfz.2_Splice_Site_p.E82_splice	NM_001831	NP_001822	P10909	CLUS_HUMAN	Homo sapiens clusterin (CLU), transcript variant 1, mRNA.	82					chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		CCTCCTGACCTCTTTCTTCTTCTT	0.559													---	151	---	---	7	---					
NOTCH1	4851	broad.mit.edu	37	9	139413070	139413072	+	In_Frame_Del	DEL	AGA	-	-			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr9:139413070_139413072delAGA	uc004chz.3	-	5	1070_1072	c.1070_1072delTCT	c.(1069-1074)ttctac>tac	p.F357del		NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	357	EGF-like 9; calcium-binding (Potential).				Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.F357delF(6)|p.S356del(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CACTCGCAGTAGAAGGAGGCCAC	0.655			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			---	20	---	---	10	---					
KAT6B	23522	broad.mit.edu	37	10	76788369	76788370	+	Frame_Shift_Del	DEL	AA	-	-			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr10:76788369_76788370delAA	uc001jwn.1	+	17	4280_4281	c.3787_3788delAA	c.(3787-3789)aaafs	p.K1263fs	KAT6B_uc001jwo.1_Frame_Shift_Del_p.K971fs|KAT6B_uc001jwp.1_Frame_Shift_Del_p.K1080fs	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	Homo sapiens K(lysine) acetyltransferase 6B (KAT6B), mRNA.	1263					histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										GAGGCAAAACAAAGAGAGGAAG	0.460													---	79	---	---	7	---					
ANO9	338440	broad.mit.edu	37	11	418481	418483	+	In_Frame_Del	DEL	TCT	-	-			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr11:418481_418483delTCT	uc001lpi.2	-	22	2322_2324	c.2237_2239delAGA	c.(2236-2241)aagatg>atg	p.K746del	SIGIRR_uc001lpf.2_5'Flank|SIGIRR_uc001lpe.1_5'Flank|ANO9_uc001lph.2_In_Frame_Del_p.K439del|ANO9_uc010qvv.1_In_Frame_Del_p.K602del	NM_001012302	NP_001012302	A1A5B4	ANO9_HUMAN	Homo sapiens anoctamin 9 (ANO9), mRNA.	746						chloride channel complex	chloride channel activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						CCATGCCACATCTTCTCACGCAG	0.621													---	105	---	---	51	---					
NDUFS3	4722	broad.mit.edu	37	11	47603920	47603922	+	In_Frame_Del	DEL	TCT	-	-			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr11:47603920_47603922delTCT	uc001nga.2	+	5	609_611	c.527_529delTCT	c.(526-531)gtcttc>gtc	p.F178del	NDUFS3_uc001nft.3_In_Frame_Del_p.F157del	NM_004551	NP_004542	O75489	NDUS3_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase) (NDUFS3), nuclear gene encoding mitochondrial protein, mRNA.	178					induction of apoptosis|mitochondrial electron transport, NADH to ubiquinone|negative regulation of cell growth|reactive oxygen species metabolic process|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|electron carrier activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)	9					NADH(DB00157)	ATGTTTGGAGTCTTCTTTGCTAA	0.483													---	365	---	---	38	---					
SNX32	254122	broad.mit.edu	37	11	65618541	65618543	+	In_Frame_Del	DEL	TTT	-	-			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr11:65618541_65618543delTTT	uc001ofr.3	+	6	746_748	c.619_621delTTT	c.(619-621)tttdel	p.F207del		NM_152760	NP_689973	Q86XE0	SNX32_HUMAN	Homo sapiens sorting nexin 32 (SNX32), mRNA.	207					cell communication|protein transport		phosphatidylinositol binding			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				READ - Rectum adenocarcinoma(159;0.171)		GGATGACTTCTTTGAGCATGAGA	0.596													---	228	---	---	14	---					
CREBZF	58487	broad.mit.edu	37	11	85375242	85375244	+	In_Frame_Del	DEL	CTT	-	-			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr11:85375242_85375244delCTT	uc001pas.2	-	0	939_941	c.676_678delAAG	c.(676-678)aagdel	p.K226del	CREBZF_uc010rtd.1_Non-coding_Transcript|CREBZF_uc010rtc.1_Non-coding_Transcript	NM_001039618	NP_001034707	Q9NS37	ZHANG_HUMAN	Homo sapiens CREB/ATF bZIP transcription factor (CREBZF), transcript variant 1, mRNA.	226					negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.K226delK(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				TCACGTACTCCTTCTTCTTCAGT	0.665											OREG0021274	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	173	---	---	12	---					
RBM7	10179	broad.mit.edu	37	11	114278270	114278273	+	Frame_Shift_Del	DEL	TCAA	-	-			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr11:114278270_114278273delTCAA	uc001pow.3	+	4	555_558	c.545_548delTCAA	c.(544-549)ttcaatfs	p.F182fs	RBM7_uc001pov.3_Frame_Shift_Del_p.F181fs|RBM7_uc001pox.3_Frame_Shift_Del_p.F61fs	NM_016090	NP_057174	Q9Y580	RBM7_HUMAN	Homo sapiens RNA binding motif protein 7 (RBM7), mRNA.	181					meiosis		RNA binding|nucleotide binding|protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.56e-06)|Epithelial(105;4.17e-05)|all cancers(92;0.000348)		AGTCATAGTTTCAATCAGTCTTCA	0.422													---	201	---	---	12	---					
CIT	11113	broad.mit.edu	37	12	120151451	120151455	+	Splice_Site	DEL	ATTCT	-	-			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr12:120151451_120151455delATTCT	uc001txj.2	-	34	4363	c.4307_splice	c.e34-1	p.E1436_splice	CIT_uc001txh.2_Splice_Site_p.E913_splice|CIT_uc001txi.2_Splice_Site_p.E1394_splice|MIR1178_uc021rer.1_Non-coding_Transcript	NM_001206999	NP_001193928	O14578	CTRO_HUMAN	Homo sapiens citron (rho-interacting, serine/threonine kinase 21) (CIT), transcript variant 1, mRNA.	1394					intracellular signal transduction		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		ATCACCTGACATTCTAGGGAAGAAC	0.610													---	99	---	---	9	---					
LOC100507055	100507055	broad.mit.edu	37	12	133182784	133182786	+	In_Frame_Del	DEL	CAG	-	-			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr12:133182784_133182786delCAG	uc021rgr.1	-	1	194_196	c.52_54delCTG	c.(52-54)ctgdel	p.L18del		NM_001195520	NP_001182449			Homo sapiens uncharacterized LOC100507055 (LOC100507055), mRNA.																		CCATGGACCCcagcagcagcagc	0.650													---	6	---	---	3	---					
METTL3	56339	broad.mit.edu	37	14	21971404	21971406	+	In_Frame_Del	DEL	TTC	-	-			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr14:21971404_21971406delTTC	uc001wbc.3	-	2	725_727	c.633_635delGAA	c.(631-636)aagaaa>aaa	p.211_212KK>K	METTL3_uc001wbb.3_In_Frame_Del_p.56_57KK>K|METTL3_uc010tlw.1_Non-coding_Transcript|METTL3_uc010tlx.2_In_Frame_Del_p.211_212KK>K|METTL3_uc021rox.1_In_Frame_Del_p.211_212KK>K	NM_019852	NP_062826	Q86U44	MTA70_HUMAN	Homo sapiens methyltransferase like 3 (METTL3), mRNA.	211					gene expression	nuclear speck	RNA binding|mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		TTTCCTTGATTTCTTGGCTGGCT	0.502													---	229	---	---	34	---					
GALC	2581	broad.mit.edu	37	14	88406276	88406276	+	Frame_Shift_Del	DEL	T	-	-			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr14:88406276delT	uc001xvt.3	-	15	1991	c.1884delA	c.(1882-1884)aaafs	p.K628fs	GALC_uc010tvw.1_Non-coding_Transcript|GALC_uc010tvy.2_Frame_Shift_Del_p.K605fs|GALC_uc010tvx.2_Frame_Shift_Del_p.K602fs|GALC_uc010tvz.1_Frame_Shift_Del_p.K572fs	NM_000153	NP_000144	P54803	GALC_HUMAN	Homo sapiens galactosylceramidase (GALC), transcript variant 1, mRNA.	628					carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GTGTATACCATTTTTTTGCTG	0.308													---	185	---	---	7	---					
KIAA0664	23277	broad.mit.edu	37	17	2601759	2601761	+	In_Frame_Del	DEL	GAA	-	-			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr17:2601759_2601761delGAA	uc002fuy.1	-	9	1362_1364	c.1276_1278delTTC	c.(1276-1278)ttcdel	p.F426del	KIAA0664_uc002fux.1_In_Frame_Del_p.F358del	NM_015229	NP_056044	O75153	K0664_HUMAN	Homo sapiens KIAA0664 (KIAA0664), mRNA.	426							binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|lung(6)|urinary_tract(3)	23						AGCCCAGGCTGAAGAAGATGTTG	0.611													---	48	---	---	11	---					
VAT1	10493	broad.mit.edu	37	17	41168124	41168126	+	In_Frame_Del	DEL	TTC	-	-			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr17:41168124_41168126delTTC	uc002icm.1	-	5	1254_1256	c.1134_1136delGAA	c.(1132-1137)aagaat>aat	p.K378del	VAT1_uc010cyw.1_In_Frame_Del_p.K244del|VAT1_uc010whk.1_In_Frame_Del_p.K310del	NM_006373	NP_006364	Q99536	VAT1_HUMAN	Homo sapiens vesicle amine transport protein 1 homolog (T. californica) (VAT1), mRNA.	378						cytoplasm|integral to membrane	oxidoreductase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.156)		CTTGCCCACATTCTTCTTCTCCT	0.557													---	474	---	---	40	---					
SRSF2	6427	broad.mit.edu	37	17	74732390	74732395	+	In_Frame_Del	DEL	GGACTT	-	-			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr17:74732390_74732395delGGACTT	uc002jsy.4	-	1	765_770	c.514_519delAAGTCC	c.(514-519)aagtccdel	p.KS172del	SRSF2_uc010wtg.2_In_Frame_Del_p.KS160del|SRSF2_uc002jsv.3_In_Frame_Del_p.KS172del|SRSF2_uc002jsw.2_Non-coding_Transcript|MFSD11_uc002jsz.1_Non-coding_Transcript|MFSD11_uc002jta.2_5'UTR|MFSD11_uc002jtd.4_5'Flank|MFSD11_uc002jtb.3_5'Flank|MFSD11_uc002jtc.3_5'Flank|MFSD11_uc002jte.3_5'Flank|MFSD11_uc010dhb.3_5'Flank|MFSD11_uc010dha.3_5'Flank	NM_001195427	NP_001182356	Q01130	SRSF2_HUMAN	Homo sapiens serine/arginine-rich splicing factor 2 (SRSF2), transcript variant 2, mRNA.	172	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	RNA binding|nucleotide binding|protein binding|transcription corepressor activity			haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						AGACCGACGAGGACTTGGACTTGGAC	0.617			Mis		"""MDS, CLL"""								---	104	---	---	17	---					
ALPK2	115701	broad.mit.edu	37	18	56171248	56171252	+	Frame_Shift_Del	DEL	TTCTC	-	-			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr18:56171248_56171252delTTCTC	uc002lhj.4	-	10	6372_6376	c.6158_6162delGAGAA	c.(6157-6162)agagaafs	p.R2053fs		NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	2053	Alpha-type protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CAGCTTCTGATTCTCTTCTCAAGAA	0.473													---	207	---	---	7	---					
BRD4	23476	broad.mit.edu	37	19	15349706	15349708	+	In_Frame_Del	DEL	GCT	-	-			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr19:15349706_15349708delGCT	uc002nar.3	-	18	4088_4090	c.3866_3868delAGC	c.(3865-3870)cagcgc>cgc	p.Q1289del		NM_058243	NP_490597	O60885	BRD4_HUMAN	Homo sapiens bromodomain containing 4 (BRD4), transcript variant long, mRNA.	1289	Poly-Gln.				interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			tgctcctggcgctgctgctgctg	0.709			T	C15orf55	lethal midline carcinoma of young people								---	4	---	---	3	---					
CIC	23152	broad.mit.edu	37	19	42798099	42798100	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr19:42798099_42798100delAG	uc002otf.1	+	16	4093_4094	c.4053_4054delAG	c.(4051-4056)tcagaafs	p.S1351fs		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	1351					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GGGTCCTGTCAGAAGTGGACTT	0.678			"""Mis, F, S"""		oligodendroglioma								---	73	---	---	64	---					
NKX2-2	4821	broad.mit.edu	37	20	21492574	21492574	+	Frame_Shift_Del	DEL	T	-	-			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr20:21492574delT	uc002wsi.3	-	1	1166	c.809delA	c.(808-810)cagfs	p.Q270fs		NM_002509	NP_002500	O95096	NKX22_HUMAN	Homo sapiens NK2 homeobox 2 (NKX2-2), mRNA.	270					brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						CCAAGTCCACTGCTGGGCCTG	0.706													---	37	---	---	34	---					
RGS19	10287	broad.mit.edu	37	20	62705360	62705362	+	In_Frame_Del	DEL	TTG	-	-			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr20:62705360_62705362delTTG	uc002yhy.3	-	5	765_767	c.498_500delCAA	c.(496-501)aacaag>aag	p.N166del	RGS19_uc002yhz.3_In_Frame_Del_p.N144del|RGS19_uc002yib.3_In_Frame_Del_p.N166del	NM_005873	NP_001034556	P49795	RGS19_HUMAN	Homo sapiens regulator of G-protein signaling 19 (RGS19), transcript variant 1, mRNA.	166	RGS.				G-protein coupled receptor protein signaling pathway|autophagy|negative regulation of signal transduction|small GTPase mediated signal transduction	Golgi apparatus|membrane fraction|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			lung(1)|prostate(1)|skin(1)	3	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					CTGCATCTTCTTGTTGATGCCCT	0.640													---	115	---	---	7	---					
CNKSR2	22866	broad.mit.edu	37	X	21627678	21627680	+	In_Frame_Del	DEL	GAG	-	-			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chrX:21627678_21627680delGAG	uc004czx.2	+	19	3115_3117	c.2635_2637delGAG	c.(2635-2637)gagdel	p.E886del	CNKSR2_uc004czw.3_In_Frame_Del_p.E886del|CNKSR2_uc011mjn.2_In_Frame_Del_p.E837del|CNKSR2_uc011mjo.2_In_Frame_Del_p.E856del|CNKSR2_uc004czy.3_In_Frame_Del_p.E478del	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN	Homo sapiens connector enhancer of kinase suppressor of Ras 2 (CNKSR2), transcript variant 1, mRNA.	886	Poly-Glu.				regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						ggtggaggaagaggaggaggagg	0.517													---	73	---	---	7	---					
BCOR	54880	broad.mit.edu	37	X	39932365	39932366	+	Frame_Shift_Del	DEL	CT	-	-			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chrX:39932365_39932366delCT	uc004den.4	-	3	2525_2526	c.2233_2234delAG	c.(2233-2235)aggfs	p.R745fs	BCOR_uc004dep.4_Frame_Shift_Del_p.R745fs|BCOR_uc004deo.4_Frame_Shift_Del_p.R745fs|BCOR_uc004dem.4_Frame_Shift_Del_p.R745fs|BCOR_uc004deq.4_Frame_Shift_Del_p.R745fs	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.	745					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						CCGGGATCTCCTCTCTGGTTTC	0.515			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						---	132	---	---	53	---					
