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
CAD	790	broad.mit.edu	37	2	27447693	27447693	+	Silent	SNP	G	A	A			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr2:27447693G>A	uc002rji.3	+	9	1497	c.1335G>A	c.(1333-1335)ggG>ggA	p.G445G	CAD_uc010eyw.3_Silent_p.G445G	NM_004341	NP_004332	P27708	PYR1_HUMAN	Homo sapiens carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), mRNA.	445	CPSase (Carbamoyl-phosphate synthase).|CPSase A.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	ATP binding|aspartate binding|aspartate carbamoyltransferase activity|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	CCTCCCAGGGGCTGGCCGACA	0.517000														246			4		0	0	0.000248	0	0
SSTR3	6753	broad.mit.edu	37	22	37603800	37603800	+	Missense_Mutation	SNP	G	T	T			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr22:37603800G>T	uc003ara.3	-	1	105	c.43C>A	c.(43-45)Cct>Act	p.P15T	SSTR3_uc003arb.3_Missense_Mutation_p.P15T|SSTR3_uc021wos.1_Missense_Mutation_p.P15T	NM_001051	NP_001042	P32745	SSR3_HUMAN	Homo sapiens somatostatin receptor 3 (SSTR3), mRNA.	15					G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						GCATTCTCAGGTTCTGAGGTC	0.632000														46			20		5.26018e-13	6.33004e-13	0.001882	1	0
RELT	84957	broad.mit.edu	37	11	73102213	73102213	+	Silent	SNP	C	T	T			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr11:73102213C>T	uc001otv.3	+	4	477	c.312C>T	c.(310-312)ccC>ccT	p.P104P	RELT_uc001otw.3_Silent_p.P104P|RELT_uc009yto.1_Silent_p.P22P|RELT_uc001otx.3_5'Flank	NM_152222	NP_689408	Q969Z4	TR19L_HUMAN	Homo sapiens RELT tumor necrosis factor receptor (RELT), transcript variant 2, mRNA.	104						cytoplasm|integral to membrane|plasma membrane	binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						GGGGGGTTCCCCGCGTTCCAT	0.587000														98			60		0	0	0.003610	0	0
ODZ2	57451	broad.mit.edu	37	5	167674845	167674845	+	Missense_Mutation	SNP	C	T	T			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr5:167674845C>T	uc010jjd.3	+	26	6874	c.6874C>T	c.(6874-6876)Cgc>Tgc	p.R2292C	ODZ2_uc003lzr.4_Missense_Mutation_p.R2062C|ODZ2_uc003lzt.4_Missense_Mutation_p.R1665C|ODZ2_uc010jje.3_Missense_Mutation_p.R1556C	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		TGTCCAGTACCGCTATGATGG	0.567000														107			38		0	0	0.005524	0	0
OR1L3	26735	broad.mit.edu	37	9	125437655	125437655	+	Missense_Mutation	SNP	G	A	A	rs142972365		TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr9:125437655G>A	uc011lzb.2	+	0	247	c.247G>A	c.(247-249)Gtg>Atg	p.V83M		NM_001005234	NP_001005234	Q8NH93	OR1L3_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 3 (OR1L3), mRNA.	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	16						AAAGATGCTCGTGAACTTCTT	0.398000														139			57		0	0	0.003610	0	0
COQ5	84274	broad.mit.edu	37	12	120966932	120966932	+	Missense_Mutation	SNP	C	A	A			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr12:120966932C>A	uc001tyn.3	-	0	33	c.13G>T	c.(13-15)Ggg>Tgg	p.G5W	COQ5_uc010szj.2_Missense_Mutation_p.G5W	NM_032314	NP_115690	Q5HYK3	COQ5_HUMAN	Homo sapiens coenzyme Q5 homolog, methyltransferase (S. cerevisiae) (COQ5), nuclear gene encoding mitochondrial protein, mRNA.	5					ubiquinone biosynthetic process	mitochondrion	methyltransferase activity	p.P4P(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3)	20	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCACAGCTCCCGGGGGCCGCC	0.652000														31			15		1.3612e-06	1.61076e-06	0.003163	1	0
CTAGE11P	647288	broad.mit.edu	37	13	75814354	75814354	+	Missense_Mutation	SNP	C	G	G			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr13:75814354C>G	uc010ths.2	-	0	164	c.123G>C	c.(121-123)tgG>tgC	p.W41C						Homo sapiens CTAGE family, member 11, pseudogene (CTAGE11P), non-coding RNA.																		CCACCAGTTCCCATGGAAAAC	0.488000														96			4		0	0	0.000602	0	0
SSPO	23145	broad.mit.edu	37	7	149486393	149486393	+	Silent	SNP	C	T	T	rs116737043	by1000genomes	TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr7:149486393C>T	uc010lpk.3	+	29	4369	c.4369C>T	c.(4369-4371)Ctg>Ttg	p.L1457L		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	1457	LDL-receptor class A 3.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCAGGGCTTGCTGGCCTGTGC	0.677000														40			3		0	0	0.000248	0	0
SLC22A8	9376	broad.mit.edu	37	11	62763251	62763251	+	Missense_Mutation	SNP	T	C	C			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr11:62763251T>C	uc009yon.3	-	6	1047	c.926A>G	c.(925-927)aAg>aGg	p.K309R	SLC22A8_uc001nwn.1_3'UTR|SLC22A8_uc009yom.3_Missense_Mutation_p.K186R|SLC22A8_uc001nwo.3_Missense_Mutation_p.K309R|SLC22A8_uc010rmm.2_Missense_Mutation_p.K218R|SLC22A8_uc001nwp.2_Missense_Mutation_p.K309R	NM_001184732	NP_001171665	Q8TCC7	S22A8_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 8 (SLC22A8), transcript variant 2, mRNA.	309					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						GTACTTGGCCTTGGCCAAGGA	0.597000														155			77		0	0	0.003610	0	0
SI	6476	broad.mit.edu	37	3	164767582	164767582	+	Missense_Mutation	SNP	G	A	A			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr3:164767582G>A	uc003fei.3	-	13	1657	c.1594C>T	c.(1594-1596)Cct>Tct	p.P532S		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	532	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	ATTTTACCAGGAGTAAACGGT	0.264000										HNSCC(35;0.089)				56			16		0	0	0.006122	0	0
SYNGAP1	8831	broad.mit.edu	37	6	33405883	33405883	+	Missense_Mutation	SNP	C	T	T			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr6:33405883C>T	uc011dri.2	+	7	1396	c.1201C>T	c.(1201-1203)Cgg>Tgg	p.R401W	SYNGAP1_uc003oeo.1_Missense_Mutation_p.R386W|SYNGAP1_uc010juy.3_Missense_Mutation_p.R386W|SYNGAP1_uc010juz.3_Missense_Mutation_p.R113W	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN	Homo sapiens synaptic Ras GTPase activating protein 1 (SYNGAP1), mRNA.	401					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						CCCGGCTGTGCGGCTGAAAGC	0.592000														163			22		0	0	0.003330	0	0
MARK1	4139	broad.mit.edu	37	1	220791711	220791711	+	Silent	SNP	T	C	C			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr1:220791711T>C	uc009xdw.3	+	7	1209	c.612T>C	c.(610-612)agT>agC	p.S204S	MARK1_uc001hmn.4_Silent_p.S204S|MARK1_uc010pun.2_Silent_p.S204S|MARK1_uc001hmm.4_Silent_p.S182S	NM_018650	NP_061120	Q9P0L2	MARK1_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 1 (MARK1), mRNA.	204	Protein kinase.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		TTGGTTTTAGTAATGAATTTA	0.383000														61			21		0	0	0.002780	0	0
COL4A5	1287	broad.mit.edu	37	X	107816843	107816843	+	Missense_Mutation	SNP	C	T	T			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chrX:107816843C>T	uc022ccg.1	+	8	707	c.505C>T	c.(505-507)Cca>Tca	p.P169S	COL4A5_uc004enz.1_Missense_Mutation_p.P169S	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	169	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						ACTGCCAGGACCAAAGGGTAA	0.363000									Alport syndrome with Diffuse Leiomyomatosis					128			46		0	0	0.003610	0	0
SPTBN1	6711	broad.mit.edu	37	2	54876248	54876248	+	Missense_Mutation	SNP	A	G	G			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr2:54876248A>G	uc002rxu.3	+	24	5372	c.5123A>G	c.(5122-5124)gAc>gGc	p.D1708G	SPTBN1_uc002rxx.3_Missense_Mutation_p.D1695G	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 1 (SPTBN1), transcript variant 1, mRNA.	1708	Interaction with ANK2.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			CGGGAGGTGGACGACCTGGAG	0.542000														100			3		0	0	0.000248	0	0
SYTL2	54843	broad.mit.edu	37	11	85420400	85420400	+	Silent	SNP	C	T	T			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr11:85420400C>T	uc010rth.2	-	11	2363	c.1974G>A	c.(1972-1974)gcG>gcA	p.A658A	SYTL2_uc010rtg.2_Silent_p.A659A|SYTL2_uc010rti.2_Silent_p.A634A|SYTL2_uc010rtj.2_Silent_p.A626A|SYTL2_uc001pav.3_Silent_p.A100A|SYTL2_uc010rte.2_Silent_p.A60A|SYTL2_uc001pax.3_Silent_p.A100A|SYTL2_uc001paz.3_5'UTR|SYTL2_uc001pay.3_Silent_p.A89A|SYTL2_uc001paw.3_Silent_p.A60A|SYTL2_uc009yvj.3_Non-coding_Transcript|SYTL2_uc001pbd.3_Silent_p.A956A|SYTL2_uc001pbb.3_Silent_p.A996A|SYTL2_uc001pbc.3_Silent_p.A980A|SYTL2_uc010rtf.2_Silent_p.A476A	NM_001162951	NP_001156423	Q9HCH5	SYTL2_HUMAN	Homo sapiens synaptotagmin-like 2 (SYTL2), transcript variant g, mRNA.	658	C2 1.			A -> V (in Ref. 4; BAD18516).	intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	Rab GTPase binding|neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TTTTTACATCCGCTGCTGCTA	0.398000														121			49		0	0	0.003610	0	0
STAU1	6780	broad.mit.edu	37	20	47732387	47732387	+	Silent	SNP	T	C	C			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr20:47732387T>C	uc002xud.3	-	12	2061	c.1650A>G	c.(1648-1650)ttA>ttG	p.L550L	STAU1_uc002xua.3_Silent_p.L469L|STAU1_uc002xub.3_Silent_p.L475L|STAU1_uc002xuc.3_Silent_p.L469L|STAU1_uc002xue.3_Silent_p.L469L|STAU1_uc002xuf.3_Silent_p.L475L|STAU1_uc002xug.3_Silent_p.L550L	NM_017453	NP_059348	O95793	STAU1_HUMAN	Homo sapiens staufen, RNA binding protein, homolog 1 (Drosophila) (STAU1), transcript variant T3, mRNA.	550						microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			ACAGCAACTTTAAGATGTTCA	0.512000														217			10		0	0	0.008291	0	0
MGAM	8972	broad.mit.edu	37	7	141799485	141799485	+	Missense_Mutation	SNP	C	T	T			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr7:141799485C>T	uc003vwy.3	+	43	5188	c.5134C>T	c.(5134-5136)Cgt>Tgt	p.R1712C		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1712	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCTTCATGTCCGTGGGGGCTA	0.498000														87			8		0	0	0.003080	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19415849	19415849	+	RNA	SNP	T	A	A			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr13:19415849T>A	uc010tcj.1	-	0		c.30261A>T								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		ATTTCCTTCTTTGACCtttaa	0.264000														9			3		0	0	0.004672	0	0
BTNL3	10917	broad.mit.edu	37	5	180420089	180420089	+	Missense_Mutation	SNP	T	A	A			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr5:180420089T>A	uc003mmr.3	+	1	510	c.326T>A	c.(325-327)aTc>aAc	p.I109N		NM_197975	NP_932079	Q6UXE8	BTNL3_HUMAN	Homo sapiens butyrophilin-like 3 (BTNL3), mRNA.	109					lipid metabolic process	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			CCCTCGGACATCGGCCTGTAT	0.522000														2			13		0	0	0.001855	0	0
MAGIX	79917	broad.mit.edu	37	X	49022446	49022446	+	Missense_Mutation	SNP	G	A	A			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chrX:49022446G>A	uc010nin.1	+	5	760	c.713G>A	c.(712-714)gGa>gAa	p.G238E	MAGIX_uc004dmt.2_Missense_Mutation_p.G157E|MAGIX_uc010nio.1_Missense_Mutation_p.G162E|MAGIX_uc004dmu.2_Missense_Mutation_p.G179E|MAGIX_uc004dmw.2_Missense_Mutation_p.G166E	NM_024859	NP_079135	Q9H6Y5	MAGIX_HUMAN	Homo sapiens MAGI family member, X-linked (MAGIX), transcript variant 1, mRNA.	238																	CCAGATCCTGGAGGGCCGGAG	0.617000														68			29		0	0	0.001786	0	0
MMP15	4324	broad.mit.edu	37	16	58072238	58072238	+	Missense_Mutation	SNP	G	A	A	rs147283654		TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr16:58072238G>A	uc002ena.3	+	2	1353	c.380G>A	c.(379-381)cGg>cAg	p.R127Q		NM_002428	NP_002419	P51511	MMP15_HUMAN	Homo sapiens matrix metallopeptidase 15 (membrane-inserted) (MMP15), mRNA.	127					protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding	p.R127W(1)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18						AACCTGCGGCGGCGTCGGAAG	0.647000														130			48		0	0	0.003610	0	0
PPYR1	5540	broad.mit.edu	37	10	47087234	47087234	+	Missense_Mutation	SNP	C	T	T			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr10:47087234C>T	uc001jee.3	+	2	870	c.451C>T	c.(451-453)Ccc>Tcc	p.P151S	ANXA8L1_uc001jed.4_Intron|PPYR1_uc009xna.3_Missense_Mutation_p.P151S|PPYR1_uc021ppu.1_Missense_Mutation_p.P151S	NM_005972	NP_005963	P50391	NPY4R_HUMAN	Homo sapiens pancreatic polypeptide receptor 1 (PPYR1), mRNA.	151					blood circulation|digestion|feeding behavior	integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						AGGCTGGAAGCCCAGCATCTC	0.587000														218			48		0	0	0.003610	0	0
PCDH19	57526	broad.mit.edu	37	X	99662276	99662276	+	Silent	SNP	G	A	A			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chrX:99662276G>A	uc010nmz.3	-	0	2996	c.1320C>T	c.(1318-1320)acC>acT	p.T440T	PCDH19_uc004efw.4_Silent_p.T440T|PCDH19_uc004efx.4_Silent_p.T440T	NM_001184880	NP_001171809	Q8TAB3	PCD19_HUMAN	Homo sapiens protocadherin 19 (PCDH19), transcript variant 3, mRNA.	440	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.T440T(2)		breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						TGATGAGCACGGTAAAGGACT	0.577000														147			4		0	0	0.000602	0	0
PSKH1	5681	broad.mit.edu	37	16	67961376	67961376	+	Missense_Mutation	SNP	G	A	A			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr16:67961376G>A	uc002euv.3	+	2	1276	c.1106G>A	c.(1105-1107)cGc>cAc	p.R369H		NM_006742	NP_006733	P11801	KPSH1_HUMAN	Homo sapiens protein serine kinase H1 (PSKH1), mRNA.	369						Golgi apparatus|endoplasmic reticulum membrane|microtubule organizing center|nuclear speck|plasma membrane	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(7)|pancreas(1)	12		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0044)|Epithelial(162;0.0197)|all cancers(182;0.128)		AACCTGCACCGCTCCATATCC	0.607000														83			48		0	0	0.003610	0	0
C11orf63	79864	broad.mit.edu	37	11	122774732	122774732	+	Silent	SNP	G	A	A			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr11:122774732G>A	uc001pym.3	+	2	741	c.444G>A	c.(442-444)ccG>ccA	p.P148P	C11orf63_uc001pyl.1_Silent_p.P148P	NM_024806	NP_079082	Q6NUN7	CK063_HUMAN	Homo sapiens chromosome 11 open reading frame 63 (C11orf63), transcript variant 1, mRNA.	148								p.P148S(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		AAGCGTTGCCGGAGTCCACGG	0.532000														117			62		0	0	0.003610	0	0
TGIF2	60436	broad.mit.edu	37	20	35236193	35236193	+	Missense_Mutation	SNP	C	T	T			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr20:35236193C>T	uc002xfo.3	+	2	384	c.268C>T	c.(268-270)Cca>Tca	p.P90S	TGIF2_uc002xfs.3_Missense_Mutation_p.P64S|TGIF2_uc002xfq.3_Missense_Mutation_p.P64S|TGIF2_uc002xft.3_Non-coding_Transcript|TGIF2_uc002xfr.3_Missense_Mutation_p.P64S	NM_001199535	NP_001186464	Q9GZN2	TGIF2_HUMAN	Homo sapiens TGIF2-C20orf24 readthrough (TGIF2-C20ORF24), mRNA.	0						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(3)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				GGGAGTTTTGCCATTACGAGG	0.393000														148			4		0	0	0.000248	0	0
GGT1	2678	broad.mit.edu	37	22	25023484	25023484	+	Missense_Mutation	SNP	A	G	G			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr22:25023484A>G	uc003aan.1	+	11	1593	c.1106A>G	c.(1105-1107)tAc>tGc	p.Y369C	GGT1_uc003aas.1_Missense_Mutation_p.Y369C|GGT1_uc003aat.1_Missense_Mutation_p.Y369C|GGT1_uc003aau.2_Missense_Mutation_p.Y369C|GGT1_uc003aav.2_Missense_Mutation_p.Y369C|GGT1_uc003aaw.2_Missense_Mutation_p.Y369C|GGT1_uc003aax.2_Missense_Mutation_p.Y369C|GGT1_uc003aay.1_Missense_Mutation_p.Y25C	NM_013430	NP_038347	P19440	GGT1_HUMAN	Homo sapiens gamma-glutamyltransferase 1 (GGT1), transcript variant 3, mRNA.	369					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	ATCTCCTACTACAAGCCCGAG	0.632000														105			3		0	0	0.000248	0	0
BC139719	0	broad.mit.edu	37	16	90161571	90161571	+	Missense_Mutation	SNP	A	G	G			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr16:90161571A>G	uc002fqq.3	+	3	497	c.497A>G	c.(496-498)cAa>cGa	p.Q166R	BC139719_uc002fqp.3_Missense_Mutation_p.Q149R					Homo sapiens, Similar to tubulin, beta, 2, clone IMAGE:4873024, mRNA.																		CAACTGGGCCAAGGGACGCTA	0.577000														38			3		0	0	0.004672	0	0
RDX	5962	broad.mit.edu	37	11	110104176	110104176	+	Missense_Mutation	SNP	T	C	C			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr11:110104176T>C	uc009yxy.3	-	12	1683	c.1373A>G	c.(1372-1374)aAg>aGg	p.K458R	RDX_uc009yxx.1_Non-coding_Transcript|RDX_uc009yxz.3_Missense_Mutation_p.K111R|RDX_uc009yya.3_Intron|RDX_uc001pks.3_5'UTR|RDX_uc001pkt.3_Missense_Mutation_p.K112R|RDX_uc001pku.3_Missense_Mutation_p.K458R|RDX_uc010rwe.2_Missense_Mutation_p.K322R	NM_002906	NP_002897	P35241	RADI_HUMAN	Homo sapiens radixin (RDX), mRNA.	458	Glu-rich.				actin filament capping	Golgi apparatus|cleavage furrow|cytoskeleton|extrinsic to membrane|nucleolus|plasma membrane	actin binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		TTCTTTGGTCTTTTCCAAGTC	0.403000														129			3		0	0	0.004672	0	0
LRIG3	121227	broad.mit.edu	37	12	59272814	59272814	+	Silent	SNP	A	C	C			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr12:59272814A>C	uc001sqr.3	-	13	2121	c.1875T>G	c.(1873-1875)gcT>gcG	p.A625A	LRIG3_uc009zqh.3_Silent_p.A565A|LRIG3_uc010ssh.2_Non-coding_Transcript	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 3 (LRIG3), transcript variant 2, mRNA.	625	Ig-like C2-type 2.					integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			GCCCCACAGCAGCACACTCCA	0.587000			T	ROS1	NSCLC									39			13		0	0	0.001855	0	0
AGAP2	116986	broad.mit.edu	37	12	58126704	58126704	+	Silent	SNP	G	A	A			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr12:58126704G>A	uc001spq.3	-	5	1608	c.1608C>T	c.(1606-1608)tgC>tgT	p.C536C	AGAP2_uc001spp.3_Silent_p.C536C|AGAP2_uc001spr.3_Silent_p.C200C	NM_001122772	NP_001116244	Q99490	AGAP2_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 (AGAP2), transcript variant 1, mRNA.	536	G domain.				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						TCATGTCCGCGCACAGAGCTC	0.567000														364			7		0	0	0.004482	0	0
MYH15	22989	broad.mit.edu	37	3	108172944	108172944	+	Missense_Mutation	SNP	C	G	G			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr3:108172944C>G	uc003dxa.1	-	21	2425	c.2368G>C	c.(2368-2370)Gat>Cat	p.D790H		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	790	Myosin head-like.					myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						AGTCTCTCATCTCTTATTGCT	0.393000														51			5		0	0	0.000602	0	0
YTHDC1	91746	broad.mit.edu	37	4	69179953	69179953	+	Missense_Mutation	SNP	C	T	T			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr4:69179953C>T	uc003hdx.3	-	16	2401	c.2048G>A	c.(2047-2049)cGg>cAg	p.R683Q	YTHDC1_uc003hdy.3_Missense_Mutation_p.R665Q	NM_001031732	NP_001026902	Q96MU7	YTDC1_HUMAN	Homo sapiens YTH domain containing 1 (YTHDC1), transcript variant 1, mRNA.	683	Arg-rich.									NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						ctctcgttcccggtctctttc	0.493000														21			15		0	0	0.002450	0	0
LILRB4	11006	broad.mit.edu	37	19	55179342	55179342	+	Missense_Mutation	SNP	C	T	T			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr19:55179342C>T	uc002qgp.3	+	11	1581	c.1219C>T	c.(1219-1221)Ccc>Tcc	p.P407S	LILRB4_uc002qgq.3_Missense_Mutation_p.P406S|LILRB4_uc010ert.3_Missense_Mutation_p.P448S|LILRB4_uc010eru.3_Missense_Mutation_p.P437S	NM_006847	NP_006838	Q8NHJ6	LIRB4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 (LILRB4), transcript variant 1, mRNA.	407						integral to membrane|plasma membrane	antigen binding|receptor activity	p.P407S(2)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		ATCTGAAGCCCCCCAGGATGT	0.647000														105			4		0	0	0.000248	0	0
TET3	200424	broad.mit.edu	37	2	74300737	74300737	+	Silent	SNP	C	T	T			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr2:74300737C>T	uc002skb.4	+	1	2151	c.2151C>T	c.(2149-2151)gtC>gtT	p.V717V	TET3_uc010fez.2_Silent_p.V717V	NM_144993	NP_659430	O43151	TET3_HUMAN	Homo sapiens tet methylcytosine dioxygenase 3 (TET3), mRNA.	717							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.T716T(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCCCCACGGTCGCCTCTATCC	0.448000														27			3		0	0	0.000248	0	0
DDX11	1663	broad.mit.edu	37	12	31244796	31244796	+	Silent	SNP	C	T	T			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr12:31244796C>T	uc001rjt.1	+	9	1484	c.1233C>T	c.(1231-1233)agC>agT	p.S411S	DDX11_uc010sjx.1_Non-coding_Transcript|DDX11_uc001rjr.1_Silent_p.S411S|DDX11_uc001rjs.1_Silent_p.S411S|DDX11_uc001rju.1_Silent_p.S89S|DDX11_uc001rjv.1_Silent_p.S411S|DDX11_uc001rjw.1_Silent_p.S385S|DDX11_uc001rjx.1_Silent_p.S89S|DDX11_uc009zjn.1_Non-coding_Transcript	NM_152438	NP_689651	Q96FC9	DDX11_HUMAN	Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (DDX11), transcript variant 3, mRNA.	411	Helicase ATP-binding.				G2/M transition of mitotic cell cycle|S phase of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|RNA binding|protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					TGGAGGTCAGCGGCTCCCAGG	0.662000										Multiple Myeloma(12;0.14)				106			4		0	0	0.000602	0	0
CLN8	2055	broad.mit.edu	37	8	1728624	1728624	+	Missense_Mutation	SNP	A	C	C			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr8:1728624A>C	uc003wpo.4	+	2	1057	c.752A>C	c.(751-753)cAt>cCt	p.H251P		NM_018941	NP_061764	Q9UBY8	CLN8_HUMAN	Homo sapiens ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation) (CLN8), mRNA.	251	TLC.				cell death|ceramide biosynthetic process|cholesterol metabolic process|lipid transport|negative regulation of proteolysis|phospholipid metabolic process	ER-Golgi intermediate compartment membrane|endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)		BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913)		TATTGGACCCATAAGAAGACT	0.542000														161			31		0	0	0.001786	0	0
SAGE1	55511	broad.mit.edu	37	X	134992597	134992597	+	Missense_Mutation	SNP	C	T	T			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chrX:134992597C>T	uc004ezh.3	+	15	2055	c.1888C>T	c.(1888-1890)Cgt>Tgt	p.R630C	SAGE1_uc010nry.1_Missense_Mutation_p.R599C|SAGE1_uc011mvv.2_Missense_Mutation_p.R254C	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	Homo sapiens sarcoma antigen 1 (SAGE1), mRNA.	630								p.R630H(1)		breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					TCACAACATCCGTGAAGAGAA	0.488000														126			63		0	0	0.003610	0	0
HSP90AB2P	391634	broad.mit.edu	37	4	13339453	13339453	+	RNA	SNP	G	A	A	rs16898654	by1000genomes	TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr4:13339453G>A	uc003gms.3	+	0		c.4417G>A								Homo sapiens heat shock protein 90kDa alpha (cytosolic), class B member 2, pseudogene (HSP90AB2P), non-coding RNA.											kidney(3)|lung(1)	4						GATGCCACCCGTCTGAGCTGC	0.428000														15			8		0	0	0.006214	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	T	T	rs121913500		TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	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									45			27		0	0	0.001786	0	0
IL21R	50615	broad.mit.edu	37	16	27448929	27448929	+	Silent	SNP	C	T	T			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr16:27448929C>T	uc002dor.2	+	4	887	c.339C>T	c.(337-339)gaC>gaT	p.D113D	IL21R_uc002doq.2_Silent_p.D91D|IL21R_uc002dos.2_Silent_p.D91D	NM_181079	NP_851565	Q9HBE5	IL21R_HUMAN	Homo sapiens interleukin 21 receptor (IL21R), transcript variant 3, mRNA.	91					natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						TCATGGCCGACGACATTTTCA	0.572000			T	BCL6	NHL									82			5		0	0	0.001168	0	0
FRMPD4	9758	broad.mit.edu	37	X	12735805	12735805	+	Missense_Mutation	SNP	C	T	T			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chrX:12735805C>T	uc004cuz.2	+	15	3366	c.2860C>T	c.(2860-2862)Ccg>Tcg	p.P954S	FRMPD4_uc011mij.2_Missense_Mutation_p.P946S	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA.	954					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						GACCGAGTTCCCGGCCTCCAA	0.607000														248			7		0	0	0.001984	0	0
ABCC12	94160	broad.mit.edu	37	16	48162529	48162529	+	Silent	SNP	G	A	A			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr16:48162529G>A	uc002efc.1	-	8	1702	c.1356C>T	c.(1354-1356)acC>acT	p.T452T	ABCC12_uc002eey.1_Non-coding_Transcript|ABCC12_uc002eez.1_Non-coding_Transcript|ABCC12_uc002efa.1_Non-coding_Transcript|ABCC12_uc002efb.1_Non-coding_Transcript|ABCC12_uc002efd.1_Non-coding_Transcript|ABCC12_uc002efe.1_Silent_p.T452T	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 12 (ABCC12), mRNA.	452						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				ATTTCTTTGGGGTACTTTTCC	0.507000														65			33		0	0	0.001786	0	0
PDE6B	5158	broad.mit.edu	37	4	658702	658702	+	Missense_Mutation	SNP	C	T	T			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr4:658702C>T	uc003gap.3	+	17	2215	c.2162C>T	c.(2161-2163)gCc>gTc	p.A721V	PDE6B_uc003gao.4_Missense_Mutation_p.A721V|PDE6B_uc011buy.2_Missense_Mutation_p.A442V|PDE6B_uc011buz.2_Missense_Mutation_p.A153V	NM_000283	NP_001138764	P35913	PDE6B_HUMAN	Homo sapiens phosphodiesterase 6B, cGMP-specific, rod, beta (PDE6B), transcript variant 1, mRNA.	721					GMP metabolic process|cytosolic calcium ion homeostasis|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						GACCTGTCTGCCATCACCAAG	0.602000														99			4		0	0	0.000602	0	0
MNF1	84300	broad.mit.edu	37	6	33665498	33665498	+	Missense_Mutation	SNP	T	C	C			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr6:33665498T>C	uc003ofa.1	-	3	354	c.313A>G	c.(313-315)Aaa>Gaa	p.K105E	MNF1_uc003oez.1_Non-coding_Transcript	NM_032340	NP_115716	Q9BRT2	CF125_HUMAN	Homo sapiens chromosome 6 open reading frame 125 (C6orf125), mRNA.	105																	CACATGCCTTTATCTATTTCC	0.478000														56			24		0	0	0.006320	0	0
HLA-DQB2	3120	broad.mit.edu	37	6	32725567	32725567	+	Missense_Mutation	SNP	C	T	T	rs114234640	byFrequency	TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr6:32725567C>T	uc003obz.2	-	3	823	c.740G>A	c.(739-741)cGt>cAt	p.R247H	HLA-DQB2_uc003oby.4_Intron	NM_001198858	NP_001185787	Q5SR06	Q5SR06_HUMAN	Homo sapiens major histocompatibility complex, class II, DQ beta 2 (HLA-DQB2), mRNA.	216					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	MHC class II protein complex|integral to membrane				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						ACCCCTGTGACGGATGATAAG	0.552000														23			4		0	0	0.000602	0	0
CDH23	64072	broad.mit.edu	37	10	73453969	73453969	+	Missense_Mutation	SNP	G	A	A			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr10:73453969G>A	uc001jrx.4	+	19	2626	c.2236G>A	c.(2236-2238)Gca>Aca	p.A746T	CDH23_uc001jry.3_Missense_Mutation_p.A746T|CDH23_uc001jrz.3_Missense_Mutation_p.A746T	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	748	Cadherin 7.		V -> I.		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						CATCGTTCGCGCAGTGGACGG	0.627000														38			10		0	0	0.008291	0	0
SPSB4	92369	broad.mit.edu	37	3	140785590	140785590	+	Missense_Mutation	SNP	C	T	T			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr3:140785590C>T	uc003ett.3	+	1	889	c.644C>T	c.(643-645)gCc>gTc	p.A215V	SPSB4_uc010hum.3_Missense_Mutation_p.A215V	NM_080862	NP_543138	Q96A44	SPSB4_HUMAN	Homo sapiens splA/ryanodine receptor domain and SOCS box containing 4 (SPSB4), mRNA.	215	B30.2/SPRY.				intracellular signal transduction	cytoplasm	protein binding	p.S214G(1)		biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1)	4						GTGGTGAGTGCCGTGTGGGGC	0.617000														86			4		0	0	0.000602	0	0
LOC100233156	100233156	broad.mit.edu	37	GL000218.1	40716	40716	+	Missense_Mutation	SNP	C	T	T			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chrGL000218.1:40716C>T	uc011mfn.2	-	2	303	c.214G>A	c.(214-216)Gtg>Atg	p.V72M	LOC100233156_uc003jah.2_Missense_Mutation_p.V72M					Homo sapiens tektin 4 pseudogene (LOC100233156), transcript variant 1, non-coding RNA.																		GCCAGGTTCACGGCGTCACAC	0.672000														19			3		0	0	0.000602	0	0
MLLT3	4300	broad.mit.edu	37	9	20360828	20360828	+	Missense_Mutation	SNP	C	T	T			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr9:20360828C>T	uc003zoe.2	-	7	1602	c.1343G>A	c.(1342-1344)aGt>aAt	p.S448N	MLLT3_uc011lne.1_Missense_Mutation_p.S416N|MLLT3_uc011lnf.1_Missense_Mutation_p.S445N	NM_004529	NP_004520	P42568	AF9_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (MLLT3), mRNA.	448					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		GCTGCCATCACTTAAGCTAAC	0.418000			T	MLL	ALL									42			11		0	0	0.008291	0	0
SYNE1	23345	broad.mit.edu	37	6	152831491	152831491	+	Missense_Mutation	SNP	T	C	C			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr6:152831491T>C	uc021zhb.1	-	5	641	c.418A>G	c.(418-420)Agc>Ggc	p.S140G	SYNE1_uc003qot.4_Missense_Mutation_p.S147G|SYNE1_uc003qou.4_Missense_Mutation_p.S140G|SYNE1_uc010kjb.1_Missense_Mutation_p.S140G|SYNE1_uc003qpa.1_Missense_Mutation_p.S140G	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	140	Actin-binding.				Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GGCAGGTTGCTGGTCAACTCT	0.448000										HNSCC(10;0.0054)				43			32		0	0	0.002836	0	0
FUBP1	8880	broad.mit.edu	37	1	78432577	78432577	+	Missense_Mutation	SNP	T	C	C			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr1:78432577T>C	uc001dii.3	-	5	495	c.406A>G	c.(406-408)Ata>Gta	p.I136V	FUBP1_uc001dih.4_Non-coding_Transcript|FUBP1_uc010orm.2_Missense_Mutation_p.I157V	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN	Homo sapiens far upstream element (FUSE) binding protein 1 (FUBP1), mRNA.	136	KH 1.				transcription from RNA polymerase II promoter	nucleus	RNA binding|protein binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						CCAGGAGCTATCTGTATTTTG	0.318000			"""F, N"""		oligodendroglioma									22			18		0	0	0.001523	0	0
NCOA1	8648	broad.mit.edu	37	2	24952593	24952593	+	Missense_Mutation	SNP	G	A	A			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr2:24952593G>A	uc002rfk.3	+	14	3369	c.3110G>A	c.(3109-3111)gGc>gAc	p.G1037D	NCOA1_uc010eye.3_Missense_Mutation_p.G1037D|NCOA1_uc002rfi.3_Missense_Mutation_p.G886D|NCOA1_uc002rfj.3_Missense_Mutation_p.G1037D|NCOA1_uc002rfl.3_Missense_Mutation_p.G1037D	NM_003743	NP_003734	Q15788	NCOA1_HUMAN	Homo sapiens nuclear receptor coactivator 1 (NCOA1), transcript variant 1, mRNA.	1037									PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTGGCATGGGCATGCAGCCC	0.542000			T	PAX3	alveolar rhadomyosarcoma									194			4		0	0	0.000248	0	0
CD3D	915	broad.mit.edu	37	11	118211223	118211223	+	Silent	SNP	C	T	T			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr11:118211223C>T	uc001pss.1	-	1	278	c.141G>A	c.(139-141)acG>acA	p.T47T	CD3D_uc001pst.1_Silent_p.T47T|CD3D_uc021qrf.1_Intron	NM_000732	NP_000723	P04234	CD3D_HUMAN	Homo sapiens CD3d molecule, delta (CD3-TCR complex) (CD3D), transcript variant 1, mRNA.	47					T cell costimulation|T cell receptor signaling pathway|positive thymic T cell selection	cytoplasm|integral to membrane	protein heterodimerization activity			large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	9	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		GTGTTCCCACCGTTCCCTCTA	0.458000														46			16		0	0	0.007413	0	0
DGKK	139189	broad.mit.edu	37	X	50213438	50213438	+	Silent	SNP	T	C	C			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chrX:50213438T>C	uc010njr.2	-	0	284	c.240A>G	c.(238-240)gaA>gaG	p.E80E		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	Homo sapiens diacylglycerol kinase, kappa (DGKK), mRNA.	80	33 X 4 AA approximate tandem repeats of E-P-A-P.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					ctggggtcggTTCTGTGTACA	0.647000														347			17		0	0	0.007413	0	0
FLG	2312	broad.mit.edu	37	1	152277975	152277975	+	Silent	SNP	C	T	T			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr1:152277975C>T	uc001ezu.1	-	2	9423	c.9387G>A	c.(9385-9387)tcG>tcA	p.S3129S		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3129	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.H3128N(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCTATCTACCGAATGCTCGT	0.592000									Ichthyosis					397			9		0	0	0.001368	0	0
SYNJ2	8871	broad.mit.edu	37	6	158504625	158504627	+	In_Frame_Del	DEL	AGA	-	-			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr6:158504625_158504627delAGA	uc003qqx.2	+	20	3136_3138	c.3030_3032delAGA	c.(3028-3033)tcagaa>tca	p.E1011del	SYNJ2_uc003qqw.2_In_Frame_Del_p.E1011del|SYNJ2_uc003qqy.2_In_Frame_Del_p.E774del|SYNJ2_uc003qqz.2_In_Frame_Del_p.E628del|SYNJ2_uc003qra.2_In_Frame_Del_p.E354del	NM_003898	NP_001171559	O15056	SYNJ2_HUMAN	Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA.	1011							RNA binding|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		ACTATGAGTCAGAAGGTTAGTGA	0.517													---	143	---	---	33	---					
ACTB	60	broad.mit.edu	37	7	5567674	5567676	+	In_Frame_Del	DEL	CTT	-	-			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr7:5567674_5567676delCTT	uc003sot.4	-	4	1027_1029	c.943_945delAAG	c.(943-945)aagdel	p.K315del	ACTB_uc003sor.4_In_Frame_Del_p.K193del|ACTB_uc003soq.4_In_Frame_Del_p.K193del	NM_001101	NP_001092	P60709	ACTB_HUMAN	Homo sapiens actin, beta (ACTB), mRNA.	315					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	MLL5-L complex|NuA4 histone acetyltransferase complex|cytoskeleton|cytosol|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		CAGTGATCTCCTTCTGCATCCTG	0.581													---	245	---	---	8	---					
MLL3	58508	broad.mit.edu	37	7	151845685	151845686	+	Frame_Shift_Del	DEL	GA	-	-			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr7:151845685_151845686delGA	uc003wla.3	-	51	13545_13546	c.13326_13327delTC	c.(13324-13329)actcagfs	p.T4442fs	MLL3_uc003wkz.3_Frame_Shift_Del_p.T3560fs|MLL3_uc003wkx.3_Frame_Shift_Del_p.T600fs|MLL3_uc003wky.3_Frame_Shift_Del_p.T2006fs	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	4442					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GCACCAGCCTGAGTCTCATAGA	0.515			N		medulloblastoma								---	177	---	---	37	---					
UCK1	83549	broad.mit.edu	37	9	134404915	134404915	+	Frame_Shift_Del	DEL	T	-	-			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr9:134404915delT	uc004cay.3	-	2	426	c.325delA	c.(325-327)acgfs	p.T109fs	UCK1_uc010mzk.3_Frame_Shift_Del_p.T100fs|UCK1_uc004cba.3_Frame_Shift_Del_p.T109fs|UCK1_uc004caz.3_Non-coding_Transcript	NM_031432	NP_113620	Q9HA47	UCK1_HUMAN	Homo sapiens uridine-cytidine kinase 1 (UCK1), transcript variant 1, mRNA.	109					pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;2.34e-05)|Epithelial(140;0.000219)		ACCTCCACCGTTTTGCCCTCC	0.557													---	116	---	---	47	---					
LRRC43	254050	broad.mit.edu	37	12	122677545	122677545	+	Frame_Shift_Del	DEL	C	-	-			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr12:122677545delC	uc009zxm.3	+	6	1368	c.1343delC	c.(1342-1344)tccfs	p.S448fs	LRRC43_uc001ubw.4_Frame_Shift_Del_p.S263fs|LRRC43_uc009zxn.3_Frame_Shift_Del_p.S209fs	NM_001098519	NP_689972	Q8N309	LRC43_HUMAN	Homo sapiens leucine rich repeat containing 43 (LRRC43), transcript variant 1, mRNA.	448										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		CTCTGCCCGTCCCCAGGGTAA	0.577													---	36	---	---	10	---					
HTR2A	3356	broad.mit.edu	37	13	47409749	47409750	+	Frame_Shift_Del	DEL	AA	-	-	rs143289722		TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr13:47409749_47409750delAA	uc010acr.3	-	3	1327_1328	c.638_639delTT	c.(637-639)tttfs	p.F213fs	HTR2A_uc001vbr.3_Frame_Shift_Del_p.F129fs	NM_000621	NP_000612	P28223	5HT2A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 2A (HTR2A), transcript variant 1, mRNA.	213					ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	CCTGTAGCCCAAAGACTGGTAT	0.396													---	86	---	---	22	---					
TYK2	7297	broad.mit.edu	37	19	10479066	10479067	+	Frame_Shift_Del	DEL	AA	-	-			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr19:10479066_10479067delAA	uc002moc.4	-	3	599_600	c.221_222delTT	c.(220-222)tttfs	p.F74fs	TYK2_uc010dxe.3_Intron|TYK2_uc002mod.2_Frame_Shift_Del_p.F74fs	NM_003331	NP_003322	P29597	TYK2_HUMAN	Homo sapiens tyrosine kinase 2 (TYK2), mRNA.	74	FERM.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			CGAAGAGGGCAAAGAGATTGAA	0.540													---	110	---	---	48	---					
LGALS13	29124	broad.mit.edu	37	19	40097866	40097868	+	In_Frame_Del	DEL	AAG	-	-			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr19:40097866_40097868delAAG	uc002omb.3	+	3	347_349	c.307_309delAAG	c.(307-309)aagdel	p.K103del		NM_013268	NP_037400	Q9UHV8	PP13_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 13 (LGALS13), mRNA.	103	Galectin.				lipid catabolic process|phospholipid metabolic process		carboxylesterase activity|lysophospholipase activity|sugar binding			lung(5)|ovary(1)|urinary_tract(1)	7	all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116)		Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)			CTTGTAGATAAAGGTCAATGGCA	0.458													---	40	---	---	31	---					
CIC	23152	broad.mit.edu	37	19	42796905	42796906	+	Frame_Shift_Del	DEL	TG	-	-			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr19:42796905_42796906delTG	uc002otf.1	+	13	3403_3404	c.3363_3364delTG	c.(3361-3366)actgtgfs	p.T1121fs		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	1121	Pro-rich.				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)				TGGTCTACACTGTGGCCACCAG	0.668			"""Mis, F, S"""		oligodendroglioma								---	73	---	---	26	---					
SRPX	8406	broad.mit.edu	37	X	38079976	38079978	+	In_Frame_Del	DEL	GCA	-	-	rs72445954		TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chrX:38079976_38079978delGCA	uc004ddy.2	-	0	200_202	c.68_70delTGC	c.(67-72)ctgcgc>cgc	p.L23del	SRPX_uc011mki.2_In_Frame_Del_p.L23del|SRPX_uc004ddz.2_In_Frame_Del_p.L23del|SRPX_uc011mkh.2_In_Frame_Del_p.L23del	NM_006307	NP_006298	P78539	SRPX_HUMAN	Homo sapiens sushi-repeat containing protein, X-linked (SRPX), transcript variant 1, mRNA.	23			Missing.		cell adhesion	cell surface|membrane		p.L23delL(4)		autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						GGCGGGACGCgcagcagcagcag	0.729											OREG0019726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	9	---	---	6	---					
RPGR	6103	broad.mit.edu	37	X	38145181	38145192	+	In_Frame_Del	DEL	TCCCCTTCCACT	-	-	rs144299434	byFrequency	TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chrX:38145181_38145192delTCCCCTTCCACT	uc004ded.1	-	14	3228_3239	c.3060_3071delAGTGGAAGGGGA	c.(3058-3072)gaagtggaaggggag>gag	p.1020_1024EVEGE>E	RPGR_uc004deb.3_Intron|RPGR_uc004dea.3_Intron|RPGR_uc004dec.3_Intron	NM_001034853	NP_001030025	Q92834	RPGR_HUMAN	Homo sapiens retinitis pigmentosa GTPase regulator (RPGR), transcript variant C, mRNA.	810					intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						cccttccacctccccttccacttccccttcct	0.575													---	9	---	---	7	---					
