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
SPON2	10417	broad.mit.edu	37	4	1165200	1165200	+	Missense_Mutation	SNP	C	T	T			TCGA-BJ-A45K-01A-11D-A23U-08	TCGA-BJ-A45K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ebe6d2-6537-49d3-849d-fe93e2cf52af	eb3f3419-5880-410e-8504-1988487dacd1	g.chr4:1165200C>T	uc003gco.4	-	2	624	c.295G>A	c.(295-297)Gag>Aag	p.E99K	SPON2_uc021xkj.1_Missense_Mutation_p.E99K|SPON2_uc010ibr.3_Missense_Mutation_p.E99K|SPON2_uc003gcm.1_Missense_Mutation_p.E17K	NM_012445	NP_036577	Q9BUD6	SPON2_HUMAN	Homo sapiens spondin 2, extracellular matrix protein (SPON2), transcript variant 1, mRNA.	99	Spondin.				axon guidance|cell adhesion|innate immune response	proteinaceous extracellular matrix	metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)		TCGCCGCGCTCCGCAAAGTCG	0.711000														42			12		0	0	1	0	0
KANSL1	284058	broad.mit.edu	37	17	44159834	44159834	+	Silent	SNP	C	T	T			TCGA-BJ-A45K-01A-11D-A23U-08	TCGA-BJ-A45K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ebe6d2-6537-49d3-849d-fe93e2cf52af	eb3f3419-5880-410e-8504-1988487dacd1	g.chr17:44159834C>T	uc002ikc.3	-	3	1977	c.1506G>A	c.(1504-1506)gtG>gtA	p.V502V	KANSL1_uc002ikd.3_Silent_p.V502V|KANSL1_uc010dav.3_Silent_p.V502V	NM_001193466	NP_056258	Q7Z3B3	K1267_HUMAN	Homo sapiens KIAA1267 (KIAA1267), transcript variant 1, mRNA.	502						MLL1 complex	protein binding										GATCTGTCTTCACCTCAGAAC	0.428000														27			4		0	0	1	0	0
FAM116B	414918	broad.mit.edu	37	22	50755725	50755725	+	Silent	SNP	C	T	T			TCGA-BJ-A45K-01A-11D-A23U-08	TCGA-BJ-A45K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ebe6d2-6537-49d3-849d-fe93e2cf52af	eb3f3419-5880-410e-8504-1988487dacd1	g.chr22:50755725C>T	uc011arv.1	-	4	522	c.450G>A	c.(448-450)caG>caA	p.Q150Q		NM_001001794	NP_001001794	Q8NEG7	F116B_HUMAN	Homo sapiens family with sequence similarity 116, member B (FAM116B), mRNA.	150										endometrium(1)|kidney(1)|lung(2)|skin(1)	5		all_cancers(38;4.34e-09)|all_epithelial(38;3.03e-08)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		AGCGCACCTTCTGGAAGTAGC	0.637000														18			14		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38959963	38959963	+	Missense_Mutation	SNP	G	T	T			TCGA-BJ-A45K-01A-11D-A23U-08	TCGA-BJ-A45K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ebe6d2-6537-49d3-849d-fe93e2cf52af	eb3f3419-5880-410e-8504-1988487dacd1	g.chr19:38959963G>T	uc002oit.3	+	26	3705	c.3575G>T	c.(3574-3576)aGc>aTc	p.S1192I	RYR1_uc002oiu.3_Missense_Mutation_p.S1192I	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	1192	6 X approximate repeats.|B30.2/SPRY 2.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CCCGTCTGCAGCTTGGGACCT	0.647000														34			22		2.37509e-13	2.37509e-13	1	1	0
GLYATL2	219970	broad.mit.edu	37	11	58604779	58604779	+	Missense_Mutation	SNP	T	C	C			TCGA-BJ-A45K-01A-11D-A23U-08	TCGA-BJ-A45K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ebe6d2-6537-49d3-849d-fe93e2cf52af	eb3f3419-5880-410e-8504-1988487dacd1	g.chr11:58604779T>C	uc001nnd.4	-	3	409	c.278A>G	c.(277-279)aAt>aGt	p.N93S	GLYATL2_uc009ymq.3_Missense_Mutation_p.N93S	NM_145016	NP_659453	Q8WU03	GLYL2_HUMAN	Homo sapiens glycine-N-acyltransferase-like 2 (GLYATL2), mRNA.	93						mitochondrion	glycine N-acyltransferase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	GCTGATTACATTGGAGTATGA	0.393000														32			25		0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166866283	166866283	+	Silent	SNP	C	T	T	rs149579028	byFrequency	TCGA-BJ-A45K-01A-11D-A23U-08	TCGA-BJ-A45K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ebe6d2-6537-49d3-849d-fe93e2cf52af	eb3f3419-5880-410e-8504-1988487dacd1	g.chr2:166866283C>T	uc002udo.4	-	21	4175	c.3948G>A	c.(3946-3948)agG>agA	p.R1316R	SCN1A_uc010fpk.3_Silent_p.R1288R|SCN1A_uc021vsb.1_Silent_p.R1305R	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	1316						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R1305R(1)|p.R1316R(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CTCTTAGTGTCCTGAGAGATT	0.368000														12			16		0	0	1	0	0
SDK2	54549	broad.mit.edu	37	17	71380017	71380017	+	Missense_Mutation	SNP	G	A	A			TCGA-BJ-A45K-01A-11D-A23U-08	TCGA-BJ-A45K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ebe6d2-6537-49d3-849d-fe93e2cf52af	eb3f3419-5880-410e-8504-1988487dacd1	g.chr17:71380017G>A	uc010dfm.3	-	32	4703	c.4703C>T	c.(4702-4704)aCc>aTc	p.T1568I	SDK2_uc002jjt.4_Missense_Mutation_p.T727I|SDK2_uc010dfn.2_Missense_Mutation_p.T1247I	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	1568	Fibronectin type-III 10.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						TCACTCACAGGTAAGCTCAGC	0.607000														25			13		0	0	1	0	0
SPON2	10417	broad.mit.edu	37	4	1165200	1165200	+	Missense_Mutation	SNP	C	T	T			TCGA-BJ-A45K-01A-11D-A23U-08	TCGA-BJ-A45K-11A-11D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ebe6d2-6537-49d3-849d-fe93e2cf52af	f8b219fd-cbd2-4bff-b919-d5a521efb099	g.chr4:1165200C>T	uc003gco.4	-	2	624	c.295G>A	c.(295-297)Gag>Aag	p.E99K	SPON2_uc021xkj.1_Missense_Mutation_p.E99K|SPON2_uc010ibr.3_Missense_Mutation_p.E99K|SPON2_uc003gcm.1_Missense_Mutation_p.E17K	NM_012445	NP_036577	Q9BUD6	SPON2_HUMAN	Homo sapiens spondin 2, extracellular matrix protein (SPON2), transcript variant 1, mRNA.	99	Spondin.				axon guidance|cell adhesion|innate immune response	proteinaceous extracellular matrix	metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)		TCGCCGCGCTCCGCAAAGTCG	0.711000														42			12		0	0	1	0	0
KANSL1	284058	broad.mit.edu	37	17	44159834	44159834	+	Silent	SNP	C	T	T			TCGA-BJ-A45K-01A-11D-A23U-08	TCGA-BJ-A45K-11A-11D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ebe6d2-6537-49d3-849d-fe93e2cf52af	f8b219fd-cbd2-4bff-b919-d5a521efb099	g.chr17:44159834C>T	uc002ikc.3	-	3	1977	c.1506G>A	c.(1504-1506)gtG>gtA	p.V502V	KANSL1_uc002ikd.3_Silent_p.V502V|KANSL1_uc010dav.3_Silent_p.V502V	NM_001193466	NP_056258	Q7Z3B3	K1267_HUMAN	Homo sapiens KIAA1267 (KIAA1267), transcript variant 1, mRNA.	502						MLL1 complex	protein binding										GATCTGTCTTCACCTCAGAAC	0.428000														27			4		0	0	1	0	0
FAM116B	414918	broad.mit.edu	37	22	50755725	50755725	+	Silent	SNP	C	T	T			TCGA-BJ-A45K-01A-11D-A23U-08	TCGA-BJ-A45K-11A-11D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ebe6d2-6537-49d3-849d-fe93e2cf52af	f8b219fd-cbd2-4bff-b919-d5a521efb099	g.chr22:50755725C>T	uc011arv.1	-	4	522	c.450G>A	c.(448-450)caG>caA	p.Q150Q		NM_001001794	NP_001001794	Q8NEG7	F116B_HUMAN	Homo sapiens family with sequence similarity 116, member B (FAM116B), mRNA.	150										endometrium(1)|kidney(1)|lung(2)|skin(1)	5		all_cancers(38;4.34e-09)|all_epithelial(38;3.03e-08)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		AGCGCACCTTCTGGAAGTAGC	0.637000														18			14		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38959963	38959963	+	Missense_Mutation	SNP	G	T	T			TCGA-BJ-A45K-01A-11D-A23U-08	TCGA-BJ-A45K-11A-11D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ebe6d2-6537-49d3-849d-fe93e2cf52af	f8b219fd-cbd2-4bff-b919-d5a521efb099	g.chr19:38959963G>T	uc002oit.3	+	26	3705	c.3575G>T	c.(3574-3576)aGc>aTc	p.S1192I	RYR1_uc002oiu.3_Missense_Mutation_p.S1192I	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	1192	6 X approximate repeats.|B30.2/SPRY 2.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CCCGTCTGCAGCTTGGGACCT	0.647000														34			22		2.37509e-13	2.37509e-13	1	1	0
GLYATL2	219970	broad.mit.edu	37	11	58604779	58604779	+	Missense_Mutation	SNP	T	C	C			TCGA-BJ-A45K-01A-11D-A23U-08	TCGA-BJ-A45K-11A-11D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ebe6d2-6537-49d3-849d-fe93e2cf52af	f8b219fd-cbd2-4bff-b919-d5a521efb099	g.chr11:58604779T>C	uc001nnd.4	-	3	409	c.278A>G	c.(277-279)aAt>aGt	p.N93S	GLYATL2_uc009ymq.3_Missense_Mutation_p.N93S	NM_145016	NP_659453	Q8WU03	GLYL2_HUMAN	Homo sapiens glycine-N-acyltransferase-like 2 (GLYATL2), mRNA.	93						mitochondrion	glycine N-acyltransferase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	GCTGATTACATTGGAGTATGA	0.393000														32			25		0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166866283	166866283	+	Silent	SNP	C	T	T	rs149579028	byFrequency	TCGA-BJ-A45K-01A-11D-A23U-08	TCGA-BJ-A45K-11A-11D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ebe6d2-6537-49d3-849d-fe93e2cf52af	f8b219fd-cbd2-4bff-b919-d5a521efb099	g.chr2:166866283C>T	uc002udo.4	-	21	4175	c.3948G>A	c.(3946-3948)agG>agA	p.R1316R	SCN1A_uc010fpk.3_Silent_p.R1288R|SCN1A_uc021vsb.1_Silent_p.R1305R	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	1316						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R1305R(1)|p.R1316R(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CTCTTAGTGTCCTGAGAGATT	0.368000														12			16		0	0	1	0	0
SDK2	54549	broad.mit.edu	37	17	71380017	71380017	+	Missense_Mutation	SNP	G	A	A			TCGA-BJ-A45K-01A-11D-A23U-08	TCGA-BJ-A45K-11A-11D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ebe6d2-6537-49d3-849d-fe93e2cf52af	f8b219fd-cbd2-4bff-b919-d5a521efb099	g.chr17:71380017G>A	uc010dfm.3	-	32	4703	c.4703C>T	c.(4702-4704)aCc>aTc	p.T1568I	SDK2_uc002jjt.4_Missense_Mutation_p.T727I|SDK2_uc010dfn.2_Missense_Mutation_p.T1247I	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	1568	Fibronectin type-III 10.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						TCACTCACAGGTAAGCTCAGC	0.607000														25			13		0	0	1	0	0
CRH	1392	broad.mit.edu	37	8	67089559	67089561	+	In_Frame_Del	DEL	GCG	-	-			TCGA-BJ-A45K-01A-11D-A23U-08	TCGA-BJ-A45K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ebe6d2-6537-49d3-849d-fe93e2cf52af	eb3f3419-5880-410e-8504-1988487dacd1	g.chr8:67089559_67089561delGCG	uc022avj.1	-	0	152_154	c.152_154delCGC	c.(151-156)ccgcag>cag	p.P51del	CRH_uc003xvy.2_In_Frame_Del_p.P51del	NM_000756	NP_000747	P06850	CRF_HUMAN	Homo sapiens corticotropin releasing hormone (CRH), mRNA.	51					female pregnancy|negative regulation of circadian sleep/wake cycle, REM sleep|parturition|positive regulation of circadian sleep/wake cycle, wakefulness|positive regulation of cortisol secretion|signal transduction|synaptic transmission	extracellular region|soluble fraction	neuropeptide hormone activity			breast(1)|endometrium(1)|lung(2)|urinary_tract(1)	5		all_cancers(86;2.58e-06)|all_epithelial(80;6.27e-09)|all_lung(136;0.000414)|Lung NSC(129;0.0011)	Epithelial(68;0.0136)|all cancers(69;0.0507)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)		Corticotropin(DB01285)	TGCTCGGACTGCGGCGGCGGCTG	0.734											OREG0018805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	4	---	---	2	---					
CTSH	1512	broad.mit.edu	37	15	79220056	79220057	+	Splice_Site	INS	-	T	T			TCGA-BJ-A45K-01A-11D-A23U-08	TCGA-BJ-A45K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ebe6d2-6537-49d3-849d-fe93e2cf52af	eb3f3419-5880-410e-8504-1988487dacd1	g.chr15:79220056_79220057insT	uc021srk.1	-	9	796	c.699_splice	c.e9+1	p.I233_splice	CTSH_uc010unf.1_Splice_Site	NM_004390	NP_004381	P09668	CATH_HUMAN	Homo sapiens cathepsin H (CTSH), mRNA.	233					protein destabilization|proteolysis	lysosome	cysteine-type endopeptidase activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)	10						GGCACTCACGATTGTGATGTTG	0.535													---	33	---	---	18	---					
PDK3	5165	broad.mit.edu	37	X	24517018	24517019	+	Splice_Site	INS	-	T	T			TCGA-BJ-A45K-01A-11D-A23U-08	TCGA-BJ-A45K-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ebe6d2-6537-49d3-849d-fe93e2cf52af	eb3f3419-5880-410e-8504-1988487dacd1	g.chrX:24517018_24517019insT	uc004dbg.3	+	3	549	c.320_splice	c.e3+1	p.N107_splice	PDK3_uc004dbh.3_Splice_Site_p.N107_splice	NM_005391	NP_005382	Q15120	PDK3_HUMAN	Homo sapiens pyruvate dehydrogenase kinase, isozyme 3 (PDK3), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	107					glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TCTTGGATAAGTAAGTATGGTA	0.317													---	6	---	---	3	---					
CRH	1392	broad.mit.edu	37	8	67089559	67089561	+	In_Frame_Del	DEL	GCG	-	-			TCGA-BJ-A45K-01A-11D-A23U-08	TCGA-BJ-A45K-11A-11D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ebe6d2-6537-49d3-849d-fe93e2cf52af	f8b219fd-cbd2-4bff-b919-d5a521efb099	g.chr8:67089559_67089561delGCG	uc022avj.1	-	0	152_154	c.152_154delCGC	c.(151-156)ccgcag>cag	p.P51del	CRH_uc003xvy.2_In_Frame_Del_p.P51del	NM_000756	NP_000747	P06850	CRF_HUMAN	Homo sapiens corticotropin releasing hormone (CRH), mRNA.	51					female pregnancy|negative regulation of circadian sleep/wake cycle, REM sleep|parturition|positive regulation of circadian sleep/wake cycle, wakefulness|positive regulation of cortisol secretion|signal transduction|synaptic transmission	extracellular region|soluble fraction	neuropeptide hormone activity			breast(1)|endometrium(1)|lung(2)|urinary_tract(1)	5		all_cancers(86;2.58e-06)|all_epithelial(80;6.27e-09)|all_lung(136;0.000414)|Lung NSC(129;0.0011)	Epithelial(68;0.0136)|all cancers(69;0.0507)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)		Corticotropin(DB01285)	TGCTCGGACTGCGGCGGCGGCTG	0.734											OREG0018805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	4	---	---	2	---					
CTSH	1512	broad.mit.edu	37	15	79220056	79220057	+	Splice_Site	INS	-	T	T			TCGA-BJ-A45K-01A-11D-A23U-08	TCGA-BJ-A45K-11A-11D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ebe6d2-6537-49d3-849d-fe93e2cf52af	f8b219fd-cbd2-4bff-b919-d5a521efb099	g.chr15:79220056_79220057insT	uc021srk.1	-	9	796	c.699_splice	c.e9+1	p.I233_splice	CTSH_uc010unf.1_Splice_Site	NM_004390	NP_004381	P09668	CATH_HUMAN	Homo sapiens cathepsin H (CTSH), mRNA.	233					protein destabilization|proteolysis	lysosome	cysteine-type endopeptidase activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)	10						GGCACTCACGATTGTGATGTTG	0.535													---	33	---	---	18	---					
PDK3	5165	broad.mit.edu	37	X	24517018	24517019	+	Splice_Site	INS	-	T	T			TCGA-BJ-A45K-01A-11D-A23U-08	TCGA-BJ-A45K-11A-11D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77ebe6d2-6537-49d3-849d-fe93e2cf52af	f8b219fd-cbd2-4bff-b919-d5a521efb099	g.chrX:24517018_24517019insT	uc004dbg.3	+	3	549	c.320_splice	c.e3+1	p.N107_splice	PDK3_uc004dbh.3_Splice_Site_p.N107_splice	NM_005391	NP_005382	Q15120	PDK3_HUMAN	Homo sapiens pyruvate dehydrogenase kinase, isozyme 3 (PDK3), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	107					glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TCTTGGATAAGTAAGTATGGTA	0.317													---	6	---	---	3	---					
