Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
SPON2	10417	broad.mit.edu	37	4	1165200	1165200	+	Missense_Mutation	SNP	C	C	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	ENST00000290902.5	-	3	627	c.295G>A	c.(295-297)Gag>Aag	p.E99K	SPON2_ENST00000431380.1_Missense_Mutation_p.E99K	NM_012445.3	NP_036577.1	Q9BUD6	SPON2_HUMAN	spondin 2, extracellular matrix protein	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													12	42					0	0	1	0	0
ANXA11	311	broad.mit.edu	37	10	81932595	81932595	+	Missense_Mutation	SNP	G	G	A	rs147334030	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.chr10:81932595G>A	ENST00000438331.1	-	4	505	c.23C>T	c.(22-24)cCg>cTg	p.P8L	ANXA11_ENST00000463657.1_5'UTR|ANXA11_ENST00000360615.4_Missense_Mutation_p.P8L|ANXA11_ENST00000372231.3_Missense_Mutation_p.P8L|ANXA11_ENST00000537102.1_5'UTR|ANXA11_ENST00000535999.1_Missense_Mutation_p.P8L|ANXA11_ENST00000422982.3_Missense_Mutation_p.P8L|ANXA11_ENST00000265447.4_Missense_Mutation_p.P8L	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11	8					cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion	azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle	calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding			endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			ACCTGGGGGCGGGGGATAGCC	0.622000													5	67					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11058353	11058353	+	RNA	SNP	T	T	C	rs79433933	by1000genomes	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.chr21:11058353T>C	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GAAATCTCTTTATAAAACCTT	0.343000													6	45					0	0	1	0	0
TUBBP5	0	broad.mit.edu	37	9	141070116	141070116	+	RNA	SNP	G	G	A	rs142836124	by1000genomes	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.chr9:141070116G>A	ENST00000503395.1	+	0	1196																		p.R77H(1)									GACTCTGTGCGCTCGGGGCCC	0.687000													5	88					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38959963	38959963	+	Missense_Mutation	SNP	G	G	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	ENST00000355481.4	+	27	3706	c.3575G>T	c.(3574-3576)aGc>aTc	p.S1192I	RYR1_ENST00000360985.3_Missense_Mutation_p.S1192I|RYR1_ENST00000359596.3_Missense_Mutation_p.S1192I	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1192	6 X approximate repeats.|B30.2/SPRY 2.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|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													22	34					2.37509e-13	2.49385e-13	1	1	0
SCN1A	6323	broad.mit.edu	37	2	166866283	166866283	+	Silent	SNP	C	C	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	ENST00000423058.2	-	20	3965	c.3948G>A	c.(3946-3948)agG>agA	p.R1316R	SCN1A_ENST00000375405.3_Silent_p.R1305R|SCN1A_ENST00000303395.4_Silent_p.R1316R|AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Silent_p.R1288R	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	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													16	12					0	0	1	0	0
CYP21A1P	0	broad.mit.edu	37	6	31975110	31975110	+	RNA	SNP	C	C	T	rs41315832	by1000genomes	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.chr6:31975110C>T	ENST00000342991.6	+	0	1233					NR_040090.1		Q5ST44	Q5ST44_HUMAN									electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen										GTGGCGCAGCCGAGCATGGAA	0.632000													5	48					0	0	1	0	0
KANSL1	284058	broad.mit.edu	37	17	44159834	44159834	+	Silent	SNP	C	C	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	ENST00000262419.6	-	4	1976	c.1506G>A	c.(1504-1506)gtG>gtA	p.V502V	KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000432791.1_Silent_p.V502V|KANSL1_ENST00000575318.1_Silent_p.V502V|KANSL1_ENST00000574590.1_Silent_p.V502V|KANSL1_ENST00000572904.1_Silent_p.V502V	NM_001193466.1	NP_001180395.1	Q7Z3B3	K1267_HUMAN	KAT8 regulatory NSL complex subunit 1	502						MLL1 complex	protein binding										GATCTGTCTTCACCTCAGAAC	0.428000													4	27					0	0	1	0	0
DENND6B	414918	broad.mit.edu	37	22	50755725	50755725	+	Silent	SNP	C	C	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	ENST00000413817.2	-	5	521	c.450G>A	c.(448-450)caG>caA	p.Q150Q		NM_001001794.3	NP_001001794.3			DENN/MADD domain containing 6B																		AGCGCACCTTCTGGAAGTAGC	0.637000													14	18					0	0	1	0	0
SDK2	54549	broad.mit.edu	37	17	71380017	71380017	+	Missense_Mutation	SNP	G	G	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	ENST00000392650.3	-	33	4703	c.4703C>T	c.(4702-4704)aCc>aTc	p.T1568I	SDK2_ENST00000388726.3_Missense_Mutation_p.T1568I	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	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													13	25					0	0	1	0	0
GLYATL2	219970	broad.mit.edu	37	11	58604779	58604779	+	Missense_Mutation	SNP	T	T	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	ENST00000287275.1	-	4	668	c.278A>G	c.(277-279)aAt>aGt	p.N93S	GLYATL2_ENST00000533636.1_5'UTR|GLYATL2_ENST00000532258.1_Missense_Mutation_p.N93S	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	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													25	32					0	0	1	0	0
POM121L9P	0	broad.mit.edu	37	22	24659734	24659734	+	RNA	SNP	T	T	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.chr22:24659734T>C	ENST00000414583.2	+	0	3259					NR_003714.1																						CTCTCTCCTGTGGGAGGGGGG	0.632000													3	19					0	0	1	0	0
RP11-24M17.5	0	broad.mit.edu	37	15	76067911	76067911	+	RNA	SNP	A	A	G	rs12101948	by1000genomes	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.chr15:76067911A>G	ENST00000395215.3	+	0	18																											CAGGTGCCTGATACGTGACTG	0.547000													5	42					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135428968	135428968	+	Missense_Mutation	SNP	G	G	A	rs149243520	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.chrX:135428968G>A	ENST00000394143.1	+	6	3394	c.3103G>A	c.(3103-3105)Gag>Aag	p.E1035K	GPR112_ENST00000394141.1_Missense_Mutation_p.E830K|GPR112_ENST00000370652.1_Missense_Mutation_p.E1035K|GPR112_ENST00000287534.4_Missense_Mutation_p.E972K|GPR112_ENST00000412101.1_Missense_Mutation_p.E830K	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1035					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TACCATGTCTGAGCCTTCTAC	0.478000													6	68					0	0	1	0	0
DDX3Y	8653	broad.mit.edu	37	Y	15025700	15025700	+	Missense_Mutation	SNP	C	C	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.chrY:15025700C>A	ENST00000336079.3	+	7	714	c.608C>A	c.(607-609)cCa>cAa	p.P203Q	DDX3Y_ENST00000360160.4_Missense_Mutation_p.P203Q|DDX3Y_ENST00000463199.1_3'UTR	NM_001122665.1|NM_004660.3	NP_001116137.1|NP_004651.2	O15523	DDX3Y_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, Y-linked	203						cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|RNA binding			kidney(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	5						CGTCCTACTCCAGTGCAAAAA	0.368000													3	19					0.115264	0.115264	1	1	0
SULT1A1	6817	broad.mit.edu	37	16	28631452	28631452	+	Missense_Mutation	SNP	T	T	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.chr16:28631452T>C	ENST00000350842.4	-	2	458	c.70A>G	c.(70-72)Atg>Gtg	p.M24V	SULT1A1_ENST00000395609.1_5'UTR	NM_177536.3	NP_803880.1	P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	0					3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16						AGAATGCTCATACCTATTTGC	0.333000													11	9					0	0	1	0	0
SPON2	10417	broad.mit.edu	37	4	1165200	1165200	+	Missense_Mutation	SNP	C	C	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	ENST00000290902.5	-	3	627	c.295G>A	c.(295-297)Gag>Aag	p.E99K	SPON2_ENST00000431380.1_Missense_Mutation_p.E99K	NM_012445.3	NP_036577.1	Q9BUD6	SPON2_HUMAN	spondin 2, extracellular matrix protein	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													12	42					0	0	1	0	0
ANXA11	311	broad.mit.edu	37	10	81932595	81932595	+	Missense_Mutation	SNP	G	G	A	rs147334030	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.chr10:81932595G>A	ENST00000438331.1	-	4	505	c.23C>T	c.(22-24)cCg>cTg	p.P8L	ANXA11_ENST00000372231.3_Missense_Mutation_p.P8L|ANXA11_ENST00000360615.4_Missense_Mutation_p.P8L|ANXA11_ENST00000535999.1_Missense_Mutation_p.P8L|ANXA11_ENST00000537102.1_5'UTR|ANXA11_ENST00000422982.3_Missense_Mutation_p.P8L|ANXA11_ENST00000463657.1_5'UTR|ANXA11_ENST00000265447.4_Missense_Mutation_p.P8L	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11	8					cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion	azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle	calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding			endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			ACCTGGGGGCGGGGGATAGCC	0.622000													5	67					0	0	1	0	0
DENND6B	414918	broad.mit.edu	37	22	50755725	50755725	+	Silent	SNP	C	C	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	ENST00000413817.2	-	5	521	c.450G>A	c.(448-450)caG>caA	p.Q150Q		NM_001001794.3	NP_001001794.3			DENN/MADD domain containing 6B																		AGCGCACCTTCTGGAAGTAGC	0.637000													14	18					0	0	1	0	0
HLA-DQB2	3120	broad.mit.edu	37	6	32725596	32725596	+	Silent	SNP	C	C	G	rs115565146	by1000genomes	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.chr6:32725596C>G	ENST00000435145.2	-	4	772	c.711G>C	c.(709-711)ctG>ctC	p.L237L	HLA-DQB2_ENST00000411527.1_Intron|HLA-DQB2_ENST00000437316.2_Silent_p.L237L			Q5SR06	Q5SR06_HUMAN	major histocompatibility complex, class II, DQ beta 2	216					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	integral to membrane|MHC class II protein complex				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						CGAGGAAGATCAGCCCCAGCA	0.562000													3	19					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166866283	166866283	+	Silent	SNP	C	C	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	ENST00000423058.2	-	20	3965	c.3948G>A	c.(3946-3948)agG>agA	p.R1316R	SCN1A_ENST00000375405.3_Silent_p.R1305R|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000303395.4_Silent_p.R1316R|SCN1A_ENST00000409050.1_Silent_p.R1288R|AC010127.3_ENST00000595647.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	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													16	12					0	0	1	0	0
CYP21A1P	0	broad.mit.edu	37	6	31975110	31975110	+	RNA	SNP	C	C	T	rs41315832	by1000genomes	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.chr6:31975110C>T	ENST00000342991.6	+	0	1233					NR_040090.1		Q5ST44	Q5ST44_HUMAN									electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen										GTGGCGCAGCCGAGCATGGAA	0.632000													5	48					0	0	1	0	0
DNM1P47	0	broad.mit.edu	37	15	102304772	102304772	+	RNA	SNP	T	T	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.chr15:102304772T>C	ENST00000561463.1	+	0	12818																											CACAGCGGCGTGACGAGACTC	0.587000													5	15					0	0	1	0	0
KANSL1	284058	broad.mit.edu	37	17	44159834	44159834	+	Silent	SNP	C	C	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	ENST00000262419.6	-	4	1976	c.1506G>A	c.(1504-1506)gtG>gtA	p.V502V	KANSL1_ENST00000432791.1_Silent_p.V502V|KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000575318.1_Silent_p.V502V|KANSL1_ENST00000574590.1_Silent_p.V502V|KANSL1_ENST00000572904.1_Silent_p.V502V	NM_001193466.1	NP_001180395.1	Q7Z3B3	K1267_HUMAN	KAT8 regulatory NSL complex subunit 1	502						MLL1 complex	protein binding										GATCTGTCTTCACCTCAGAAC	0.428000													4	27					0	0	1	0	0
SDK2	54549	broad.mit.edu	37	17	71380017	71380017	+	Missense_Mutation	SNP	G	G	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	ENST00000392650.3	-	33	4703	c.4703C>T	c.(4702-4704)aCc>aTc	p.T1568I	SDK2_ENST00000388726.3_Missense_Mutation_p.T1568I	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	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													13	25					0	0	1	0	0
GLYATL2	219970	broad.mit.edu	37	11	58604779	58604779	+	Missense_Mutation	SNP	T	T	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	ENST00000287275.1	-	4	668	c.278A>G	c.(277-279)aAt>aGt	p.N93S	GLYATL2_ENST00000532258.1_Missense_Mutation_p.N93S|GLYATL2_ENST00000533636.1_5'UTR	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	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													25	32					0	0	1	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274291	39274291	+	Missense_Mutation	SNP	T	T	C	rs149439944	by1000genomes	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.chr17:39274291T>C	ENST00000391413.2	-	1	315	c.277A>G	c.(277-279)Atg>Gtg	p.M93V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	93	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.M93V(4)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			TGGCAGCACATAGACTGGCAG	0.662000													5	31					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38959963	38959963	+	Missense_Mutation	SNP	G	G	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	ENST00000355481.4	+	27	3706	c.3575G>T	c.(3574-3576)aGc>aTc	p.S1192I	RYR1_ENST00000359596.3_Missense_Mutation_p.S1192I|RYR1_ENST00000360985.3_Missense_Mutation_p.S1192I	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1192	6 X approximate repeats.|B30.2/SPRY 2.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|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													22	34					2.37509e-13	2.5001e-13	1	1	0
GPR112	139378	broad.mit.edu	37	X	135428968	135428968	+	Missense_Mutation	SNP	G	G	A	rs149243520	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.chrX:135428968G>A	ENST00000394143.1	+	6	3394	c.3103G>A	c.(3103-3105)Gag>Aag	p.E1035K	GPR112_ENST00000287534.4_Missense_Mutation_p.E972K|GPR112_ENST00000412101.1_Missense_Mutation_p.E830K|GPR112_ENST00000394141.1_Missense_Mutation_p.E830K|GPR112_ENST00000370652.1_Missense_Mutation_p.E1035K	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1035					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TACCATGTCTGAGCCTTCTAC	0.478000													6	68					0	0	1	0	0
DDX3Y	8653	broad.mit.edu	37	Y	15025700	15025700	+	Missense_Mutation	SNP	C	C	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.chrY:15025700C>A	ENST00000336079.3	+	7	714	c.608C>A	c.(607-609)cCa>cAa	p.P203Q	DDX3Y_ENST00000463199.1_3'UTR|DDX3Y_ENST00000360160.4_Missense_Mutation_p.P203Q	NM_001122665.1|NM_004660.3	NP_001116137.1|NP_004651.2	O15523	DDX3Y_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, Y-linked	203						cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|RNA binding			kidney(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	5						CGTCCTACTCCAGTGCAAAAA	0.368000													3	19					0.115264	0.115264	1	1	0
SULT1A1	6817	broad.mit.edu	37	16	28631452	28631452	+	Missense_Mutation	SNP	T	T	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.chr16:28631452T>C	ENST00000350842.4	-	2	458	c.70A>G	c.(70-72)Atg>Gtg	p.M24V	SULT1A1_ENST00000395609.1_5'UTR	NM_177536.3	NP_803880.1	P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	0					3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16						AGAATGCTCATACCTATTTGC	0.333000													11	9					0	0	1	0	0
RP11-24M17.5	0	broad.mit.edu	37	15	76067911	76067911	+	RNA	SNP	A	A	G	rs12101948	by1000genomes	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.chr15:76067911A>G	ENST00000395215.3	+	0	18																											CAGGTGCCTGATACGTGACTG	0.547000													5	42					0	0	1	0	0
KCNN3	3782	broad.mit.edu	37	1	154842331	154842333	+	In_Frame_Del	DEL	TGC	TGC	-			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.chr1:154842331_154842333delTGC	ENST00000271915.3	-	1	423_425	c.108_110delGCA	c.(106-111)caa>ca	p.QQ40del		NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	40	Poly-Gln.					integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			ctgctgctgttgctgctgctgct	0.670													3	5	---	---	---	---					
CRH	1392	broad.mit.edu	37	8	67089559	67089561	+	In_Frame_Del	DEL	GCG	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	ENST00000276571.3	-	2	598_600	c.152_154delCGC	c.(151-156)cag>c	p.PQ51del		NM_000756.2	NP_000747.1	P06850	CRF_HUMAN	corticotropin releasing hormone	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)	2	4	---	---	---	---					
MICALCL	84953	broad.mit.edu	37	11	12316384	12316389	+	In_Frame_Del	DEL	CTCCTA	CTCCTA	-	rs3812754	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.chr11:12316384_12316389delCTCCTA	ENST00000256186.2	+	3	1697_1702	c.1406_1411delCTCCTA	c.(1405-1413)cca>c	p.PPT469del		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	469	Poly-Pro.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding	p.T471delT(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		cctcctcctcctcctACAGCGGGAGG	0.573													7	11	---	---	---	---					
MAP3K9	4293	broad.mit.edu	37	14	71275774	71275776	+	In_Frame_Del	DEL	CCT	CCT	-	rs3832971		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.chr14:71275774_71275776delCCT	ENST00000554752.2	-	1	112_114	c.113_115delAGG	c.(112-117)gcg>g	p.EA38del	MAP3K9_ENST00000381250.4_In_Frame_Del_p.EA38del|MAP3K9_ENST00000555993.2_In_Frame_Del_p.EA38del			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	38	Ala-rich.|Poly-Glu.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	p.E38delE(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GCCGCCGCCGcctcctcctcctc	0.773													3	3	---	---	---	---					
CTSH	1512	broad.mit.edu	37	15	79220056	79220057	+	Splice_Site	INS	-	-	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	ENST00000220166.5	-	9	806_807	c.699_splice	c.e9+1	p.L233_splice	CTSH_ENST00000534533.1_5'UTR	NM_004390.3	NP_004381.2	P09668	CATH_HUMAN	cathepsin H	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													18	33	---	---	---	---					
GGTLC3	728226	broad.mit.edu	37	22	20367254	20367254	+	Frame_Shift_Del	DEL	G	G	-			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.chr22:20367254delG	ENST00000404912.1	-	3	411	c.279delC	c.(277-279)ccfs	p.P93fs	GGTLC3_ENST00000424787.2_Frame_Shift_Del_p.P104fs					gamma-glutamyltransferase light chain 3											lung(1)	1						TGGCAGGTGAGGGGGGTGCCC	0.617													4	7	---	---	---	---					
PDK3	5165	broad.mit.edu	37	X	24517018	24517019	+	Splice_Site	INS	-	-	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	ENST00000441463.2	+	3	320		c.e3+1		PDK3_ENST00000493226.1_3'UTR|PDK3_ENST00000379162.4_Splice_Site	NM_001142386.2	NP_001135858.1	Q15120	PDK3_HUMAN	pyruvate dehydrogenase kinase, isozyme 3						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													3	6	---	---	---	---					
KCNN3	3782	broad.mit.edu	37	1	154842331	154842333	+	In_Frame_Del	DEL	TGC	TGC	-			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.chr1:154842331_154842333delTGC	ENST00000271915.3	-	1	423_425	c.108_110delGCA	c.(106-111)caa>ca	p.QQ40del		NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	40	Poly-Gln.					integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			ctgctgctgttgctgctgctgct	0.670													3	5	---	---	---	---					
CRH	1392	broad.mit.edu	37	8	67089559	67089561	+	In_Frame_Del	DEL	GCG	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	ENST00000276571.3	-	2	598_600	c.152_154delCGC	c.(151-156)cag>c	p.PQ51del		NM_000756.2	NP_000747.1	P06850	CRF_HUMAN	corticotropin releasing hormone	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)	2	4	---	---	---	---					
MAP3K9	4293	broad.mit.edu	37	14	71275774	71275776	+	In_Frame_Del	DEL	CCT	CCT	-	rs3832971		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.chr14:71275774_71275776delCCT	ENST00000554752.2	-	1	112_114	c.113_115delAGG	c.(112-117)gcg>g	p.EA38del	MAP3K9_ENST00000381250.4_In_Frame_Del_p.EA38del|MAP3K9_ENST00000555993.2_In_Frame_Del_p.EA38del			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	38	Ala-rich.|Poly-Glu.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	p.E38delE(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GCCGCCGCCGcctcctcctcctc	0.773													3	3	---	---	---	---					
CTSH	1512	broad.mit.edu	37	15	79220056	79220057	+	Splice_Site	INS	-	-	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	ENST00000220166.5	-	9	806_807	c.699_splice	c.e9+1	p.L233_splice	CTSH_ENST00000534533.1_5'UTR	NM_004390.3	NP_004381.2	P09668	CATH_HUMAN	cathepsin H	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													18	33	---	---	---	---					
PDK3	5165	broad.mit.edu	37	X	24517018	24517019	+	Splice_Site	INS	-	-	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	ENST00000441463.2	+	3	320		c.e3+1		PDK3_ENST00000493226.1_3'UTR|PDK3_ENST00000379162.4_Splice_Site	NM_001142386.2	NP_001135858.1	Q15120	PDK3_HUMAN	pyruvate dehydrogenase kinase, isozyme 3						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													3	6	---	---	---	---					
